Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

e.g. CCGA
(min 2 characters)

Dagmar Wieczorek

Prof.
Heinrich-Heine-University Duesseldorf
Institute for Human Genetics
Universitätsstraße 1, 40225 Düsseldorf, Germany
Düsseldorf 40225
+49 211 8112354
Download vCard

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Bosch E, Popp B, G?se E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal ?, Hartwich D, Holth?fer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Abou Jamra R, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cusc? I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Kelly Galindo M, Ropers FG, Nibbeling EA, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genet Med. 2023 Aug 04; 100950. PMID: 37551667.
      Citations: 1     Fields:    Translation:Humans
    2. Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, B?lsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, L?hr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schr?ter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1. Neurology. 2023 08 29; 101(9):e879-e891. PMID: 37407264; PMCID: PMC10501093.
      Citations: 1     Fields:    Translation:Humans
    3. Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kort?m F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kib?k M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Sim?es MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, B?n?dicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rie? A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Nicolas G, K?pper H, Petit F, Ibrahim V, Top D, Di Cara F, Genomics England Research Consortium, Louie RJ, Stolerman E, Brunner HG, Vissers LELM, Kramer JM, Kleefstra T. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. Am J Hum Genet. 2023 06 01; 110(6):963-978. PMID: 37196654; PMCID: PMC10257005.
      Citations: 1     Fields:    Translation:HumansAnimals
    4. Brugger M, Ott T, Klaas O, Horv?th J, Brunet T, Graf E, Mayerhanser K, Pauck D, Neuen-Jacob E, Klee D, Reijnders MRF, Seibt A, Lamers IJC, Rose AMS, Craghill IM, Hellebrekers D, Rodenburg RJT, Wieczorek D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood. Genet Med. 2023 Jul; 25(7):100838. PMID: 37057673.
      Citations:    Fields:    Translation:HumansCells
    5. Averdunk L, Moreno-Andr?s D, Kalb R, Hsieh TC, Seibt A, Schouwink M, Faqeih EA, Brunet T, Boor P, Neveling K, Hoischen A, Hildebrandt B, Graf E, Schaper J, Omer JA, Schindler D, Krawitz P, Mayatepek E, Wieczorek D, Antonin W, von Felbert V, Distelmaier F, Huetzen MA, McKee S, Lalani S, Lu L, Jin W, Demaret T, Fleischer N, Wang LL, Jachimowicz RD. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence. Genet Med. 2023 Jul; 25(7):100836. PMID: 37013901.
      Citations: 2     Fields:    Translation:HumansCells
    6. Schmetz A, Schaper J, Thelen S, Rana M, Klenzner T, Schaumann K, Beygo J, Surowy H, L?decke HJ, Wieczorek D. FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family. Genes (Basel). 2023 03 15; 14(3). PMID: 36980996; PMCID: PMC10048304.
      Citations:    Fields:    Translation:Humans
    7. Angelova-Toshkina D, Decker JA, Traunwieser T, Holzapfel J, Bette S, Huber S, Schimmel M, Vollert K, Bison B, Kr?ncke T, Bramswig NC, Wieczorek D, Gnekow AK, Fr?hwald MC, Kuhlen M. Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution. Eur J Paediatr Neurol. 2023 Mar; 43:52-61. PMID: 36905830.
      Citations:    Fields:    Translation:Humans
    8. Aerden M, Denomm?-Pichon AS, Bonneau D, Bruel AL, Delanne J, G?rard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont ?, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kort?m F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, L?pez-Gonz?lez V, Kibaek M, T?rring PM, Renieri A, Bruno LP, ?unap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. Eur J Hum Genet. 2023 04; 31(4):461-468. PMID: 36747006; PMCID: PMC10133310.
      Citations: 1     Fields:    Translation:Humans
    9. La Rosa A, Wieczorek DJJ, Tolakanahalli R, Lee YC, Kutuk T, Tom MC, Hall MD, McDermott MW, Mehta MP, Gutierrez AN, Kotecha R. Dosimetric Impact of Lesion Number, Size, and Volume on Mean Brain Dose with Stereotactic Radiosurgery for Multiple Brain Metastases. Cancers (Basel). 2023 Jan 27; 15(3). PMID: 36765738; PMCID: PMC9913147.
      Citations:    
    10. Kampmeier A, Leit?o E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-W?dl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanp?? MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, L?pez-Gonz?lez V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals. Front Cell Dev Biol. 2022; 10:1020609. PMID: 36726590; PMCID: PMC9886139.
      Citations: 1     
    11. Averdunk L, Al-Thihli K, Surowy H, L?decke HJ, Drechsler M, Yigit G, Smorag L, Al Hallak B, Li Y, Altm?ller J, Guthoff T, Wallot M, N?rnberg P, Wollnik B, Jamra RA, Al-Maawali A, Wieczorek D. Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Clin Genet. 2023 04; 103(4):484-491. PMID: 36576126.
      Citations:    Fields:    Translation:Humans
    12. Platte V, Bergmann A, Hildebrandt B, Wieczorek D, Schuler E, Germing U, Kaivers J, Haas R, Kobbe G, Schroeder T, Rautenberg C. Clinical and Cytogenetic Characterization of Early and Late Relapses in Patients Allografted for Myeloid Neoplasms with a Myelodysplastic Component. Cancers (Basel). 2022 Dec 18; 14(24). PMID: 36551729; PMCID: PMC9776604.
      Citations: 2     
    13. van der Laan L, Rooney K, Alders M, Relator R, McConkey H, Kerkhof J, Levy MA, Lauffer P, Aerden M, Theunis M, Legius E, Tedder ML, Vissers LELM, Koene S, Ruivenkamp C, Hoffer MJV, Wieczorek D, Bramswig NC, Herget T, Gonz?lez VL, Santos-Simarro F, T?rring PM, Denomme-Pichon AS, Isidor B, Keren B, Julia S, Schaefer E, Francannet C, Maillard PY, Misra-Isrie M, Van Esch H, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome. Int J Mol Sci. 2022 Nov 08; 23(22). PMID: 36430143.
      Citations: 2     Fields:    Translation:Humans
    14. Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonni?re R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szab? A, S?megi K, Coss?e M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H, Genomics England Research Consortium. Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. Genet Med. 2023 01; 25(1):76-89. PMID: 36331550.
      Citations: 1     Fields:    Translation:Humans
    15. Mazumder A, Crawford A, Derksen A, Koch-Hogrebe M, Robbins SL, Scalise R, Undiagnosed Disease Network, Haricharan S, Bainbridge MN, Ogasawara D, Abou Jamra R, Bertini E, Cope H, Dure L, Gantz E, Hurst ACE, Mahida S, Marshall P, Peng H, Rady Children's Institute for Genomic Medicine, Rutledge SL, Shashi V, Srivastava S, Thiffault I, Topol S, Cravatt B, Torkamani A, Friedman J, Bernard G, Burglen L, Micalizzi A, Novelli A, Rodriguez D, Schlie?ke S, Qebibo L, Wieczorek D. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. Brain. 2022 10 21; 145(10):3383-3390. PMID: 35737950; PMCID: PMC9586540.
      Citations: 3     Fields:    Translation:Humans
    16. Liu Y, Koko M, Sonnenberg L, Schubert J, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Lemke JR, Platzer K, Krey I, Heine C, Lund C, Masnada S, Veggiotti P, Giordano L, Accorsi P, Striano P, Verhoeven JS, van der Zwaag B, Harder AVE, Brilstra E, Vaccarezza M, Christensen J, Howell KB, Leventer R, Stutterd C, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Motazacker MM, Marini C, Guerrini R, Koch-Hogrebe M, Scalais E, Roser T, Borggraefe I, Lederer D, Heyne HO, Hedrich UBS, Benda J, Lerche H, Johannesen KM, Gjerulfsen CE, Fenger CD, Sterbova K, Vlckova M, Kroell-Seger J, Klein KM, Au PYB, Rho JM, Ho AW, Hoei-Hansen CE, Zara F, Verhelst H, Braakman HMH, Lebon S, Le NM, Scherer SW, Howe J, Fazeli W, Walsh S, Darra F, Lakeman P, Tibussek D, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Bassan H, Borovikov A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, May P, Lal D, Rubboli G, Lesca G, Gardella E, Kr?ger J, Lassuthov? P, Wieczorek D, Pendziwiat M, Gr?nborg S, Gerard M, Gerard B, V?llo A, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, G?lisse P, Bilan F, M?ller-Schl?ter K, Nassogne MC, Destr?e A, Br?nger T, M?ller RS. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2022 09 14; 145(9):2991-3009. PMID: 34431999; PMCID: PMC10147326.
      Citations: 24     Fields:    Translation:Humans
    17. Kutuk T, Kotecha R, Tolakanahalli R, Wieczorek DJJ, Lee YC, Ahluwalia MS, Hall MD, McDermott MW, Appel H, Gutierrez AN, Mehta MP, Tom MC. Zero Setup Margin Mask versus Frame Immobilization during Gamma Knife? Icon? Stereotactic Radiosurgery for Brain Metastases. Cancers (Basel). 2022 Jul 13; 14(14). PMID: 35884453; PMCID: PMC9320023.
      Citations: 2     
    18. Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Rostasy K, Alkuraya FS, Hashem MO, Alhashem A, Tabarki B, Alamri AS, Al Safar AH, Bubshait DK, Alahmady NF, Gleeson JG, Abdel-Hamid MS, Lesko N, Ygberg S, Correia SP, Wredenberg A, Alavi S, Seyedhassani SM, Ebrahimi Nasab M, Hussien H, Omar TEI, Morsy H, Houlden H, Shahrooei M, Ghavideldarestani M, Abdel-Salam GMH, Torella A, Zanobio M, Terrone G, Brunetti-Pierri N, Omrani A, Hentschel J, Lemke JR, Abou Jamra R, Brown AEX, Maroofian R, Platzer K, Wieczorek D, Vitobello A, Nambot S, Harzallah I, Touraine R, Tajsharghi H, Sticht H. Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. Am J Hum Genet. 2022 08 04; 109(8):1421-1435. PMID: 35830857; PMCID: PMC9388382.
      Citations: 3     Fields:    Translation:Animals
    19. Angelova-Toshkina D, Holzapfel J, Huber S, Schimmel M, Gnekow AK, Kuhlen M, Wieczorek D, Fr?hwald MC. Neurofibromatosis type 1: A comparison of the 1997 NIH and the 2021 revised diagnostic criteria in 75?children and adolescents. Genet Med. 2022 09; 24(9):1978-1985. PMID: 35713653.
      Citations: 1     Fields:    Translation:Humans
    20. Averdunk L, Klee D, Wieczorek D, Haack TB, Distelmaier F. RANBP2 Mutation Mimicking Viral Encephalitis. Neuropediatrics. 2022 08; 53(4):301-302. PMID: 35381605.
      Citations:    Fields:    Translation:Humans
    21. Li G, Perrakis A, Zhang W, Croner RS, Kahlert UD, Uhlmann C, Nickel AC, Picard D, Rossi A, Hildebrandt B, Brockerhoff G, Bendt F, H?benthal U, Hewera M, Steiger HJ, Wieczorek D, Remke M, Koch K, Tigges J, Fritsche E. Progenitor cells derived from gene-engineered human induced pluripotent stem cells as synthetic cancer cell alternatives for in vitro pharmacology. Biotechnol J. 2022 Jun; 17(6):e2100693. PMID: 35334498.
      Citations: 1     Fields:    Translation:HumansCells
    22. Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Alkuraya FS, Averdunk L, Sticht H, Surowy H, L?decke HJ, Kraus C, Endele S, Reis A, Wieczorek D. Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. J Mol Med (Berl). 2021 Dec; 99(12):1769-1770. PMID: 34661688; PMCID: PMC9172859.
      Citations:    Fields:    
    23. Hesse J, Siekierka-Harreis M, Steckel B, Alter C, Schallehn M, Honke N, Schnieringer ML, Wippich M, Braband R, Schneider M, Surowy H, Wieczorek D, Schrader J, Pongratz G. Profound inhibition of CD73-dependent formation of anti-inflammatory adenosine in B cells of SLE patients. EBioMedicine. 2021 Nov; 73:103616. PMID: 34666225; PMCID: PMC8524755.
      Citations: 9     Fields:    Translation:HumansCells
    24. Lais S, Roll C, Wegener-Panzer A, Grasemann C, H?ppner J, Wieczorek D, H?gler W. Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia. Front Endocrinol (Lausanne). 2021; 12:700612. PMID: 34659108; PMCID: PMC8518617.
      Citations: 3     Fields:    Translation:Humans
    25. Goergens J, Kotter A, Thiele H, Reinhardt HC, Hucho T, Helm M, Jachimowicz RD, Schmidt J, Pochechueva T, Schwenzer N, Sitte M, Werner G, Altm?ller J, N?rnberg P, Isensee J, Li Y, M?ller C, Leube B, Salinas G, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B. Biallelic variants in YRDC cause a developmental disorder with progeroid features. Hum Genet. 2021 Dec; 140(12):1679-1693. PMID: 34545459; PMCID: PMC8553732.
      Citations: 2     Fields:    Translation:HumansCells
    26. Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Alkuraya FS, Averdunk L, Sticht H, Surowy H, L?decke HJ, Kraus C, Endele S, Reis A, Wieczorek D. The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. J Mol Med (Berl). 2021 12; 99(12):1755-1768. PMID: 34536092; PMCID: PMC8599376.
      Citations: 2     Fields:    Translation:HumansCells
    27. Schmetz A, Amiel J, Wieczorek D. Genetics of craniofacial malformations. Semin Fetal Neonatal Med. 2021 12; 26(6):101290. PMID: 34561177.
      Citations: 4     Fields:    Translation:Humans
    28. Duncan AR, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Platzer K, Luppe J, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, CAUSES Study, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Pusch M, Agrawal PB, Polovitskaya MM, Gait?n-Pe?as H, Agolini E, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Koch-Hogrebe M, Est?vez R, Jentsch TJ. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 08 05; 108(8):1450-1465. PMID: 34186028; PMCID: PMC8387284.
      Citations: 11     Fields:    Translation:HumansAnimals
    29. Lausberg E, Dewulf JP, Wiame E, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Stollbrink-Peschgens C, Choukair D, Oommen PT, Borkhardt A, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F, Gie?elmann S, Holz A, Demuth S, Haase C, Debray FG, Libioulle C, Surowy H, Wieczorek D, H?usler M. C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. J Clin Invest. 2021 06 15; 131(12). PMID: 33945503; PMCID: PMC8203463.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    30. Bormann F, J?ger P, Geyh S, Twarock S, Cadeddu RP, Rabes P, Koch A, Maus U, Hesper T, Zilkens C, Rautenberg C, K?hrer K, Petzsch P, Wieczorek D, Betz B, Surowy H, Hildebrandt B, Germing U, Kobbe G, Haas R, Schroeder T. Acute myeloid leukemia-induced functional inhibition of healthy CD34+ hematopoietic stem and progenitor cells. Stem Cells. 2021 09; 39(9):1270-1284. PMID: 34013984.
      Citations: 4     Fields:    Translation:HumansCells
    31. Mallozzi MB, Guo Y, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Onesimo R, Ortiz-Gonzalez X, Reutter H, Selicorni A, Wilkens A, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Parenti I, H?ning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Hanker B, Hellenbroich Y, Horn D, Mikat B, Milani D, Prott EC, Rossier E, Wieacker P, Wieczorek D, Gillessen-Kaesbach G, Kaiser FJ. ANKRD11 variants: KBG syndrome and beyond. Clin Genet. 2021 08; 100(2):187-200. PMID: 33955014.
      Citations: 12     Fields:    Translation:Humans
    32. Tigges J, Bielec K, Brockerhoff G, Hildebrandt B, Kapr J, Koch K, Teichweyde N, Wieczorek D, Rossi A, Fritsche E, H?benthal U. Academic application of Good Cell Culture Practice for induced pluripotent stem cells. ALTEX. 2021; 38(4):595-614. PMID: 33963415.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    33. Hanker B, Gillessen-Kaesbach G, H?ning I, L?decke HJ, Wieczorek D. Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant. Eur J Hum Genet. 2022 01; 30(1):126-132. PMID: 33785884; PMCID: PMC8738766.
      Citations: 2     Fields:    Translation:Humans
    34. White SM, Bhoj E, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Abou Jamra R, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ, Care4Rare Canada Consortium, Nezarati MM, Kernohan KD, Nell?ker C, Wieczorek D, Koch-Hogrebe M, ?unap K. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet. 2021 04 01; 108(4):749-756. PMID: 33743206; PMCID: PMC8059373.
      Citations: 1     Fields:    Translation:HumansCells
    35. Mann N, Mzoughi S, Schneider R, Schanze D, Lovric S, Mao Y, Shi S, Tan W, Onuchic-Whitford AC, Treimer E, Kitzler TM, Kause F, Schumann S, Nakayama M, Buerger F, Shril S, van der Ven AT, Majmundar AJ, Holton KM, Kolb A, Braun DA, Rao J, Jobst-Schwan T, Mildenberger E, Kuechler A, Gross O, Werberger A, Skalej M, Janecke AR, Soliman NA, Mane SM, Lifton RP, Kadlec J, Guccione E, Schmeisser MJ, Zenker M, Hildebrandt F, K?hl SJ, Kl?mbt V, K?hl M, Lennert T, Wieczorek D, Ermisch-Omran B. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol. 2021 03; 32(3):580-596. PMID: 33593823; PMCID: PMC7920168.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    36. Czeschik JC, Wieczorek D, Kaiser F, Roos A, Schara-Schmidt U, Kuechler A, Gangfu? A, Yigit G, Altm?ller J, N?rnberg P, Wollnik B, B?gershausen N, Burfeind P, K?lbel H. Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study. Am J Med Genet A. 2021 04; 185(4):1216-1221. PMID: 33427397.
      Citations: 2     Fields:    Translation:HumansCTClinical Trials
    37. Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Green A, Green SR, Iascone M, Kdissa A, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Sullivan JA, Velsher L, Wargowski DS, Wentzensen IM, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Wagner M, Graf E, Klee D, Stadheim BF, ?vantnerov? J, Wieczorek D, Distelmaier F. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genet Med. 2021 02; 23(2):384-395. PMID: 33173220; PMCID: PMC7862064.
      Citations: 1     Fields:    Translation:Humans
    38. Jamra RA, Muschke P, Popp B, Zenker M, F?hrenbach M, Borkhardt A, Brozou T, Rey LK, Schaper J, Surowy H, Zweier C, Wieczorek D, Redler S. QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. Clin Genet. 2021 01; 99(1):199-207. PMID: 33009816.
      Citations: 4     Fields:    Translation:Humans
    39. Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H, Maroofian R, Rajabi F, Baas F, Jamra RA, Sticht H, Wieczorek D. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur J Hum Genet. 2021 03; 29(3):411-421. PMID: 33168985; PMCID: PMC7940488.
      Citations: 7     Fields:    Translation:HumansCells
    40. Gruell H, Wohlgemuth K, Omran H, Klein F, Ramani A, M?ller L, Ostermann PN, Gabriel E, Abida-Islam P, M?ller-Schiffmann A, Mariappan A, Goureau O, Walker A, Andr?e M, Hauka S, Houwaart T, Dilthey A, Wieczorek D, Adams O, Timm J, Korth C, Schaal H, Gopalakrishnan J. SARS-CoV-2 targets neurons of 3D human brain organoids. EMBO J. 2020 10 15; 39(20):e106230. PMID: 32876341; PMCID: PMC7560208.
      Citations: 255     Fields:    Translation:HumansAnimalsCells
    41. Fehnle K, Meybohm P, Leng L, Leaf DE, Zacharowski K, Bucala R, Averdunk L, Bernhagen J, Surowy H, L?decke HJ, Mucha S, Wieczorek D, Marx G, Zarbock A, Stoppe C. The Macrophage Migration Inhibitory Factor (MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery. J Clin Med. 2020 Sep 11; 9(9). PMID: 32932965; PMCID: PMC7565645.
      Citations: 5     
    42. Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Romaniello R, Wieczorek D, Kuechler A, Kasteleijn E, Schot R, Mancini GMS, Webster R, Mohammad S, Leventer RJ, Mirzaa G, Dobyns WB, Meuwissen M, Jansen AC, Stouffs K, R?gal L, Storm TM, Schaeferhoff K, Hehr U, Kr?geloh-Mann I, Haack TB, Bahi-Buisson N. Defining the phenotypical spectrum associated with variants in TUBB2A. J Med Genet. 2021 01; 58(1):33-40. PMID: 32571897; PMCID: PMC7803914.
      Citations: 8     Fields:    Translation:Humans
    43. Nimtz L, Hartmann J, Tigges J, Masjosthusmann S, Schmuck M, Theiss S, Adjaye J, Wigmann C, Wieczorek D, Hildebrandt B, Bendt F, Brockerhoff G, Ke?el E, K?hrer K, Petzsch P, H?benthal U, Fritsche E. Characterization and application of electrically active neuronal networks established from human induced pluripotent stem cell-derived neural progenitor cells for neurotoxicity evaluation. Stem Cell Res. 2020 05; 45:101761. PMID: 32244191.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    44. Windheuser IC, Becker J, Cremer K, Hundertmark H, Yates LM, Mangold E, Peters S, Degenhardt F, Ludwig KU, Zink AM, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Bertoli M, Colombo R, Hempel M, Engels H, Strom TM, Wieczorek D. Nine newly identified individuals refine the phenotype associated with MYT1L mutations. Am J Med Genet A. 2020 05; 182(5):1021-1031. PMID: 32065501.
      Citations: 9     Fields:    Translation:HumansCells
    45. Skorobogatko Y, Pode-Shakked B, Powell CM, Barel O, Heimer G, Hoffmann C, Demmer LA, Perilla-Young Y, Shamseldin HE, Al Mutairi F, Alkuraya FS, Anikster Y, Saltiel AR, Wagner M, Alhaddad B, Seibt A, Remke M, Wieczorek D, Navaratnarajah T, Lichtner P, Klee D, Mayatepek E, Strom T, Meitinger T, Distelmaier F. Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. Am J Hum Genet. 2020 02 06; 106(2):246-255. PMID: 32004447; PMCID: PMC7010976.
      Citations: 7     Fields:    Translation:Humans
    46. Fagerberg CR, Taylor A, Tarnopolsky M, Brady L, Larsen MJ, Gade E, Markovic L, Nagy P, Rouse N, Agarwal P, Dolinsky VW, Bakovic M, Distelmaier F, Schr?der HD, Kib?k M, Wieczorek D, Jamra RA, Seibt A, Hejb?l EK, Klee D. Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. Brain. 2020 01 01; 143(1):94-111. PMID: 31855247.
      Citations: 13     Fields:    Translation:HumansCells
    47. Horn S, Au M, Basel-Salmon L, Bayrak-Toydemir P, Chapin A, Cohen L, Elting MW, Graham JM, Gonzaga-Jauregui C, Konen O, Holzer M, Lemke J, Miller CE, Rey LK, Wolf NI, Weiss MM, Waisfisz Q, Mirzaa GM, Wieczorek D, Abou Jamra R, Sticht H. De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. Brain. 2019 11 01; 142(11):3351-3359. PMID: 31504246; PMCID: PMC6821231.
      Citations: 20     Fields:    Translation:HumansCells
    48. Kalmbach A, Klein-Hitpass L, Ulz P, Heitzer E, Speicher MR, Rahmann S, Wieczorek D, Horsthemke B, Bramswig NC, Schr?der C, Nordstr?m K. Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome. Cytogenet Genome Res. 2019; 159(1):1-11. PMID: 31658463.
      Citations: 2     Fields:    Translation:HumansCells
    49. Richard E, Goldenberg A, Toler TL, Blanchet C, Nephi W, Verheij JBGM, Willing M, Captier G, Apparailly F, Djouad F, Sanchez E, Laplace-Builh? B, Mau-Them FT, Guignard T, Gatinois V, Vincent M, Boland A, Bihoreau MT, Deleuze JF, Olaso R, L?decke HJ, Moreau-Lenoir F, Denoyelle F, Rivi?re JB, Laplanche JL, Wieczorek D, Collet C, Genevi?ve D. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med. 2020 03; 22(3):547-556. PMID: 31649276; PMCID: PMC7056642.
      Citations: 34     Fields:    Translation:HumansAnimals
    50. Baertling F, Wagner M, Brunet T, Sabir H, Wieczorek D, Meitinger T, Meissner T, Distelmaier F. Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia. Genet Med. 2020 03; 22(3):654-655. PMID: 31641285.
      Citations: 5     Fields:    Translation:Humans
    51. Richard EM, Assir MZ, Contreras M, Shahzad M, Khan AA, Razzaq A, Akram J, Tarar MN, Blanpied TA, Ahmed ZM, van Bokhoven H, Riazuddin S, Riazuddin S, Polla DL, Abou Jamra R, Wieczorek D. Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet. 2019 10 03; 105(4):869-878. PMID: 31564433; PMCID: PMC6817559.
      Citations: 40     Fields:    Translation:Humans
    52. van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Bayat A, Berry K, Bijlsma EK, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Hunt D, Kant SG, Kato M, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, Maas S, Mancini GMS, Marcelis C, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Okamoto N, Olminkhof SNM, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Simsek-Kiper PO, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Kosho T, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE, Baban A, Beck-W?dl S, Bok LA, Grasshoff U, Horn D, Kayserili H, L?pez-Gonz?lez V, Martinez F, Oehl-Jaschkowitz B, Orellana C, Pasquier L, Rosello M, Calvo AS, Soares G, Solaeche L, Vilain C, Vincent-Delorme C, Wollnik B, Wieczorek D. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 Sep; 21(9):2160-2161. PMID: 30696996; PMCID: PMC6752317.
      Citations: 3     Fields:    
    53. Taha MS, Brenner D, Lang KS, Zhuang Y, Xu HC, Shinde PV, Warfsmann J, Vasilevska J, Sundaram B, Behnke K, Huang J, Hoell JI, Borkhardt A, Pfeffer K, Herebian D, Mayatepek E, Ahmadian MR, Keitel V, Wieczorek D, H?ussinger D, Pandyra AA, Lang PA. Fragile X mental retardation protein protects against tumour necrosis factor-mediated cell death and liver injury. Gut. 2020 01; 69(1):133-145. PMID: 31409605; PMCID: PMC6943250.
      Citations: 6     Fields:    Translation:AnimalsCells
    54. Kuhlen M, Wieczorek D, Siebert R, Fr?hwald MC. How I approach hereditary cancer predisposition in a child with cancer. Pediatr Blood Cancer. 2019 11; 66(11):e27916. PMID: 31342632.
      Citations: 3     Fields:    Translation:Humans
    55. Filatova A, Lechler MB, Hempel M, Posmyk R, Szczaluba K, Santen GWE, Nuber UA, Rey LK, Schaper J, Wieczorek D. Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects. Nat Commun. 2019 07 04; 10(1):2966. PMID: 31273213; PMCID: PMC6609698.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    56. Hadisurya J, Wieczorek D, Schwitalla JC, Kraemer M, Guey S, Grangeon L, Corpechot M. Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants. Childs Nerv Syst. 2019 07; 35(7):1231-1237. PMID: 31037424.
      Citations: 2     Fields:    Translation:Humans
    57. Le Duc D, Horn S, Jamra RA, Schaper J, Wieczorek D, Redler S. Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement. Eur J Med Genet. 2020 Feb; 63(2):103649. PMID: 30986545.
      Citations: 4     Fields:    Translation:Humans
    58. Kim JH, Park EY, Chitayat D, Stachura DL, Lindstrom K, Jewett T, Draaisma JM, Sinnema M, Hoeberigs C, Hempel M, Bachman KK, Seeley AH, Stone JK, Kong HK, Vukadin L, Richard A, Shinde DN, McWalter K, Si YC, Douglas G, Lim ST, Vissers LELM, Lemaire M, Ahn EE, Schaper J, Wieczorek D. SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal?phenotypes. Kidney Int. 2019 06; 95(6):1494-1504. PMID: 31005274; PMCID: PMC6534475.
      Citations: 15     Fields:    Translation:HumansCells
    59. Dhandapany PS, De Luca A, Jamra RA, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Hauer NN, Popp B, Taher L, Vogl C, B?ttner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, Klinger P, Kraus C, Zweier C, Wiesener A, Kunstmann E, Doerr HG, Reis A, Thiel CT. Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. Eur J Hum Genet. 2019 07; 27(7):1061-1071. PMID: 30809043; PMCID: PMC6777496.
      Citations: 8     Fields:    Translation:HumansCTClinical Trials
    60. Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Schwoerer JS, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM, Rio M. De Novo Mutations Affecting the Catalytic Ca Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. Am J Hum Genet. 2019 Feb 07; 104(2):357. PMID: 30735662; PMCID: PMC6369538.
      Citations: 6     Fields:    
    61. Renner S, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark VC, Olfe J, Seggewies FS, Hempel M, Hartmann MJ, Hillebrand M, Volk AE, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir TS, von Kodolitsch Y, Kutsche K, Rosenberger G, Sch?ler H, Roser E, Mahlmann A, Wieczorek D, Altm?ller J. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genet Med. 2019 08; 21(8):1832-1841. PMID: 30675029.
      Citations: 15     Fields:    Translation:Humans
    62. Friedl H, Meier F, Westphal D, Surowy HM, Giesen AK, Otte J, B?ttner R, Falkenstein D, Petzsch P, Wachtmeister T, Wieczorek D, Wruck W, Adjaye J, R?tten A, Redler S. Gene expression profiling in aggressive digital papillary adenocarcinoma sheds light on the architecture of a rare sweat gland carcinoma. Br J Dermatol. 2019 05; 180(5):1150-1160. PMID: 30472730.
      Citations: 2     Fields:    Translation:HumansCells
    63. Jachimowicz RD, Velpula BB, Goergens J, Bustos MA, Doll MA, Shenoy A, Wiederstein JL, Baranes-Bachar K, Bartenhagen C, Teper N, Nishi T, Schmitt A, Albrecht B, Geiger T, Hoon DSB, Fischer M, Hucho T, Peifer M, Ziv Y, Reinhardt HC, Shiloh Y, Beleggia F, Isensee J, Checa-Rodriguez C, Hertwig F, Distelmaier F, L?decke HJ, Kr?ger M, Schumacher B, Huertas P, Wieczorek D. UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors. Cell. 2019 01 24; 176(3):505-519.e22. PMID: 30612738.
      Citations: 75     Fields:    Translation:HumansCells
    64. Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Tziperman B, Barel O, de Vries BBA, Janssens V, Vissers LELM, Amiel J, Rio M, Revencu N, Wagner M, Harrer P, Wieczorek D, Kuechler A, Gordon CT. De Novo Mutations Affecting the Catalytic Ca Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. Am J Hum Genet. 2019 01 03; 104(1):139-156. PMID: 30595372; PMCID: PMC6323609.
      Citations: 17     Fields:    Translation:HumansCells
    65. Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Semerci CN, Khan A, Zafar S, Hennekam R, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, FitzPatrick DR, M?garban? A, Sousa SB. Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. PLoS Genet. 2018 12; 14(12):e1007866. PMID: 30586382; PMCID: PMC6306194.
      Citations: 1     Fields:    
    66. van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Bayat A, Berry K, Bijlsma EK, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Hunt D, Kant SG, Kato M, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, Maas S, Mancini GMS, Marcelis C, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Okamoto N, Olminkhof SNM, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Simsek-Kiper PO, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Kosho T, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE, Baban A, Beck-W?dl S, Bok LA, Grasshoff U, Horn D, Kayserili H, L?pez-Gonz?lez V, Martinez F, Oehl-Jaschkowitz B, Orellana C, Pasquier L, Rosello M, Sanchis Calvo A, Soares G, Solaeche L, Vilain C, Vincent-Delorme C, Wollnik B, Wieczorek D. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 06; 21(6):1295-1307. PMID: 30349098; PMCID: PMC6752273.
      Citations: 49     Fields:    Translation:Humans
    67. Wieczorek D. Autosomal dominant intellectual disability. Med Genet. 2018; 30(3):318-322. PMID: 30459487; PMCID: PMC6223758.
      Citations: 14     Fields:    
    68. Siebert R, Kuhlen M, Taeubner J, Brozou T, Wieczorek D, Borkhardt A. Family-based germline sequencing in children with cancer. Oncogene. 2019 02; 38(9):1367-1380. PMID: 30305723; PMCID: PMC6755997.
      Citations: 17     Fields:    Translation:Humans
    69. Taeubner J, Wieczorek D, Yasin L, Brozou T, Borkhardt A, Kuhlen M. Penetrance and Expressivity in Inherited Cancer Predisposing Syndromes. Trends Cancer. 2018 11; 4(11):718-728. PMID: 30352675.
      Citations: 16     Fields:    Translation:Humans
    70. Bertoli-Avella AM, Al Aqeel AI, Alhashem A, Al-Sannaa N, Elbendary HM, James K, Ismail S, Issa MY, McEvoy-Venneri J, Megarbane A, Mohamed S, Ravix C, Rolfs A, Stanley V, Trautman C, Engels H, Zaki MS, Gleeson JG, Bauer P, Bramswig NC, Albrecht B, Bah M, Br?hl K, Depienne C, Dorison N, Doummar D, Ehmke N, Gorokhova S, H?ron D, Horn D, Keren B, Kuechler A, Marey I, Mayer M, Mignot C, Nava C, Philip N, Sadek AA, Segebrecht L, Valence S, Villard L, Wieland T, Strom TM, L?decke HJ, Wieczorek D. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum Genet. 2018 Sep; 137(9):753-768. PMID: 30167850; PMCID: PMC6671679.
      Citations: 24     Fields:    Translation:Humans
    71. Lessel D, Gehbauer C, Venkataramanappa S, van Gassen KLI, Hempel M, Baresic A, Genetti CA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, de Kruijff I, Lek M, Mullen T, Kobbe R, Krieger T, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Campeau PM, Louie RJ, Cathey SS, Prinz I, Terhal PA, Lenhard B, Agrawal PB, Britsch S, Tolosa E, Kubisch C, Bramswig NC, Schluth-Bolard C, Haack TB, Funari MFA, Kuechler A, Shoukier M, L?decke HJ, Lerario AM, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Laberge AM, Jorge AAL, Wieczorek D, Strom TM. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018 08 01; 141(8):2299-2311. PMID: 29985992; PMCID: PMC6061686.
      Citations: 46     Fields:    Translation:HumansAnimalsCells
    72. Bramswig NC, Buiting K, Bechtel N, Horsthemke B, Rostasy K, Wieczorek D. Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue. Cytogenet Genome Res. 2018; 156(1):9-13. PMID: 30016768.
      Citations: 2     Fields:    
    73. Meester JAN, Sukalo M, Schanze D, Baynam G, Borck G, Duman D, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Reardon W, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Whiteford M, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W, Schr?der KC, Bramswig NC, Gilbert-Dussardier B, Nelle H, Roll C, Van Maldergem L, Wieczorek D. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. Hum Mutat. 2018 09; 39(9):1246-1261. PMID: 29924900; PMCID: PMC6175364.
      Citations: 13     Fields:    Translation:Humans
    74. Kraemer M, Huynh QB, Wieczorek D, Balliu B, Mikat B, Boehringer S. Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis. PeerJ. 2018; 6:e4740. PMID: 29977664; PMCID: PMC6029584.
      Citations: 4     Fields:    
    75. Zeile I, Schara U, Distelmaier F, Laugwitz L, Redler S, Buchert R, Sturm M, Wieczorek D, Haack T. Isolated PREPL deficiency associated with congenital myasthenic syndrome-22. Klin Padiatr. 2018 09; 230(5):281-283. PMID: 29913539.
      Citations: 8     Fields:    Translation:Humans
    76. Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Stark Z, Sadedin S, Broad CMG, Nowak CB, Douglas J, Parsons G, Mark P, Herman GE, Mihalic Mosher T, Gillespie MK, Brady L, Tarnopolsky M, Rabionet R, Ishihara N, Inagaki H, Kurahashi H, Dudding-Byth T, Palmer EE, Field M, Gecz J, Wieczorek D, L?decke HJ, Loidi L, Madrigal I, Eiris J, Dom?nech Salgado L, Strom TM. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Hum Mutat. 2018 08; 39(8):1126-1138. PMID: 29851191; PMCID: PMC6481655.
      Citations: 12     Fields:    Translation:HumansCells
    77. Hinreiner S, Wieczorek D, Mueller D, Roedl T, Thiel G, Grasshoff U, Chaoui R, Hehr U. Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany. Am J Med Genet C Semin Med Genet. 2018 06; 178(2):198-205. PMID: 30182445.
      Citations: 1     Fields:    Translation:HumansCells
    78. Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, de Vries BBA, Kerr B, Marcelis C, Deshpande C, Ruivenkamp CAL, Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM, Mikat B, Isidor B, Schluth-Bolard C, Wieczorek D, L?decke HJ, Strom TM, Edery P, K?ry S. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2018 06 07; 102(6):1195-1203. PMID: 29861108; PMCID: PMC5992133.
      Citations: 16     Fields:    Translation:HumansCells
    79. Fritzen D, Becker J, Peters S, Hundertmark H, Schmidt A, Cremer K, Engels H, Kuechler A, Grimmel M, Sturm M, Krei? M, Strom TM, Wieczorek D, Haack TB, Beck-W?dl S. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. Hum Genet. 2018 May; 137(5):401-411. PMID: 29796876.
      Citations: 18     Fields:    Translation:Humans
    80. Rautenberg C, Pechtel S, Hildebrandt B, Betz B, Dienst A, Nachtkamp K, Kondakci M, Geyh S, Wieczorek D, Haas R, Germing U, Kobbe G, Schroeder T. Wilms' Tumor 1 Gene Expression Using a Standardized European LeukemiaNet-Certified Assay Compared to Other Methods for Detection of Minimal Residual Disease in Myelodysplastic Syndrome and Acute Myelogenous Leukemia after Allogeneic Blood Stem Cell Transplantation. Biol Blood Marrow Transplant. 2018 11; 24(11):2337-2343. PMID: 29753838.
      Citations: 17     Fields:    Translation:Humans
    81. Chatron N, Champaigne NL, Schneider AL, Labalme A, Baggett L, Kamsteeg EJ, Pfundt R, Romano C, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, Edery P, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G, M?ller RS, Kuechler A, Simonet T, Bardel C, Aronsson J, des Portes V, Wieczorek D. The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. Ann Neurol. 2018 05; 83(5):926-934. PMID: 29630738; PMCID: PMC6021218.
      Citations: 11     Fields:    Translation:Humans
    82. Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Hoganson G, Cho MT, Deciphering Developmental Disorders Study, Calpena E, Wilkie AOM, Vasileiou G, Vergarajauregui S, Endele S, Popp B, B?ttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Altm?ller J, Li Y, Wollnik B, Plona MR, Thiel CT, L?decke HJ, Strom TM, Wieczorek D, Engel FB, Reis A. Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Am J Hum Genet. 2018 03 01; 102(3):468-479. PMID: 29429572; PMCID: PMC5985265.
      Citations: 40     Fields:    Translation:HumansAnimalsCells
    83. Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Bahrami G, Keleman K, Vahid LN, Tzschach A, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H, Bader I, Wieczorek D, G?rtner J, Gillessen-Kaesbach G. Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2019 07; 24(7):1027-1039. PMID: 29302074.
      Citations: 77     Fields:    Translation:Humans
    84. Brozou T, Taeubner J, Velleuer E, Dugas M, Wieczorek D, Borkhardt A, Kuhlen M. Correction to: Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES. Eur J Pediatr. 2018 01; 177(1):61. PMID: 29105029; PMCID: PMC6828017.
      Citations:    Fields:    
    85. Zenker M, Abou Jamra R, Kunstmann E, Wieczorek D, Rauch A, Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zweier C, Wiesener A, Uebe S, Ferrazzi F, B?ttner C, Ekici AB, Sticht H, D?rr HG, Reis A, Thiel CT. Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genet Med. 2018 06; 20(6):630-638. PMID: 29758562; PMCID: PMC5993671.
      Citations: 49     Fields:    Translation:Humans
    86. Kuhlen M, Taeubner J, Wieczorek D, Borkhardt A. Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? Mol Cell Pediatr. 2017 Oct 05; 4(1):8. PMID: 28983852; PMCID: PMC5629188.
      Citations:    
    87. Boppudi S, Zenker M, Jamra RA, Wieczorek D, Kelkel J, Jung AM, Rohrer T, Hauer NN, Sticht H, B?ttner C, Kraus C, Trautmann U, Zweier C, Wiesener A, Uebe S, Ekici AB, Reis A, D?rr HG, Thiel CT. Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. Sci Rep. 2017 09 22; 7(1):12225. PMID: 28939912; PMCID: PMC5610314.
      Citations: 33     Fields:    Translation:Humans
    88. Brozou T, Taeubner J, Velleuer E, Dugas M, Wieczorek D, Borkhardt A, Kuhlen M. Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES. Eur J Pediatr. 2018 Jan; 177(1):53-60. PMID: 28929227; PMCID: PMC5748429.
      Citations: 12     Fields:    Translation:Humans
    89. Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, Magielsen FJ, Ockeloen CW, A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA, G?nther S, Wieczorek D. Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. Eur J Hum Genet. 2017 10; 25(10):1126-1133. PMID: 28905882; PMCID: PMC5602009.
      Citations: 4     Fields:    Translation:HumansCells
    90. Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wilkens AB, Zonneveld-Huijssoon E, Deciphering Developmental Disorders Study, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA, Goldenberg A, Wieczorek D. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. Am J Hum Genet. 2017 Jul 06; 101(1):139-148. PMID: 28686853; PMCID: PMC5501873.
      Citations: 21     Fields:    Translation:HumansCells
    91. Koch G, G?ssling KL, Schipp C, Fischer U, Babor F, Schuster FR, Dietzel-Dahmen J, Wieczorek D, Borkhardt A, Meisel R, Kuhlen M. Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome. Front Immunol. 2017; 8:773. PMID: 28713390; PMCID: PMC5491950.
      Citations: 7     Fields:    
    92. Eggermann T, van de Nes J, van der Werf IM, Wenzel M, Beygo J, K?chler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Gellhaus A, Kanber D, Korda? U, L?decke HJ, Purmann S, Rossier E, Wieczorek D, Horsthemke B, Buiting K. New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. Eur J Hum Genet. 2017 08; 25(8):935-945. PMID: 28635951; PMCID: PMC5567157.
      Citations: 15     Fields:    Translation:HumansCells
    93. Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA, Perez-Due?as B. Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017 05 26; 49(6):969. PMID: 28546572.
      Citations: 2     Fields:    
    94. Wade EM, Jenkins ZA, Daniel PB, Morgan T, Bohring A, Carter E, Cho TJ, de Geus CM, Fletcher E, Hennekam RCM, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Wilson LC, Markie DM, Robertson SP, Addor MC, Ad?s LC, Bertola D, Duba HC, Hadzsiev K, Kim CA, Veenstra-Knol HE, Wieczorek D. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Am J Med Genet A. 2017 Jul; 173(7):1739-1746. PMID: 28498505.
      Citations: 12     Fields:    
    95. Cremer K, Engels H, Lemke JR, Jeschke S, Schreyer N, Sticht H, Koch M, Redler S, Strom TM, Wieland T, Distelmaier F, Schaper J, K?chler A, L?decke HJ, Wieczorek D. Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur J Hum Genet. 2017 06; 25(7):889-893. PMID: 28422131; PMCID: PMC5520065.
      Citations: 22     Fields:    Translation:Humans
    96. Hamdan FF, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Lowenstein DH, Michaud JL, Park K, Stegmann APA, Veenstra-Knol HE, Engels H, Kleefstra T, Bramswig NC, L?decke HJ, Altm?ller J, Beleggia F, Kuechler A, Li Y, Wieland T, Wollnik B, Strom TM, Wieczorek D. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum Genet. 2017 07; 136(7):821-834. PMID: 28393272.
      Citations: 33     Fields:    Translation:HumansCells
    97. Hosny Gebril O, Froukh T, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Reuter MS, Tawamie H, Buchert R, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Sticht H, Wieczorek D, Reis A, Abou Jamra R. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. JAMA Psychiatry. 2017 03 01; 74(3):293-299. PMID: 28097321.
      Citations: 103     Fields:    Translation:Humans
    98. Di Donato N, Kasper EM, Kasper BS, D?rfler A, Wieczorek D, Hoyer J, Zweier C. Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. Epilepsy Behav. 2017 04; 69:104-109. PMID: 28237832.
      Citations: 5     Fields:    Translation:Humans
    99. Caluseriu O, Bolduc FV, Noel NC, Christen HJ, Engels H, Bramswig NC, L?decke HJ, Wieland T, Surowy HM, Strom TM, Wieczorek D. Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. Hum Genet. 2017 03; 136(3):297-305. PMID: 28124119.
      Citations: 32     Fields:    Translation:Humans
    100. Bader I, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Rittinger O, Wendt K, Deardorff MA, Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Braunholz D, Bramswig NC, Gervasini C, Reiz B, Strom TM, Watrin E, Wieczorek D, Wollnik B, Baquero-Montoya C, Pi? J, Gillessen-Kaesbach G, Kaiser FJ. Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Hum Genet. 2017 03; 136(3):307-320. PMID: 28120103.
      Citations: 32     Fields:    Translation:HumansCells
    101. Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Pall H, Peall KJ, Peters GB, Prabhakar P, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Lin JP, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA, Nilsson M, Reuter MS, Perez-Due?as B, Reis A. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017 Feb; 49(2):223-237. PMID: 27992417.
      Citations: 84     Fields:    Translation:HumansCells
    102. Bader I, Koch J, Rittinger O, Sperl W, Engels H, Kuechler A, Czeschik JC, Graf E, Grasshoff U, H?ffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivi?re JB, Reis A, Hehr U, Haack TB, Wieland T, Prokisch H, Strom TM, L?decke HJ, Wieczorek D. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Eur J Hum Genet. 2017 02; 25(2):183-191. PMID: 27901041; PMCID: PMC5255962.
      Citations: 19     Fields:    Translation:Humans
    103. Pettersson M, Bernier RA, Cremer K, Eichler EE, Gerdts J, Jansen S, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, Pfundt R, Spruijt L, de Vries BB, Engels H, Kleefstra T, Bramswig NC, L?decke HJ, Albrecht B, Falkenstein D, Kuechler A, Surowy HM, Wieland T, Strom TM, Wieczorek D. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum Genet. 2017 02; 136(2):179-192. PMID: 27848077.
      Citations: 28     Fields:    Translation:HumansCells
    104. Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Ehret JK, Suri M, Carignani G, Renieri A, Kukuk GM, Zink AM, Albrecht B, L?decke HJ, Wieland T, Andrieux J, Strom TM, Wieczorek D, Dieux-Co?slier A. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Am J Med Genet A. 2017 Feb; 173(2):435-443. PMID: 27862890.
      Citations: 7     Fields:    Translation:Humans
    105. Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bubulya PA, Shashi V, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J, University of Washington Center for Mendelian Genomics, Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J, Deciphering Developmental Disorders Study, Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Lessel D, Neu A, Bramswig N, Laccone FA, Behunova J, Rehder H, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM, Ahn EYE, Bosch DGM, Petrovski S, Kort?m F, Strom TM, Wieczorek D, Gordon CT, Rio M, Romana S. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet. 2016 09 01; 99(3):711-719. PMID: 27545680; PMCID: PMC5011044.
      Citations: 46     Fields:    Translation:HumansAnimalsCells
    106. Cremer K, Becker J, Zink AM, Kim S, Windheuser IC, Aretz S, Engels H, Sch?fgen J, Wieland T, Krei? M, Strom TM, Wieczorek D. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. Eur J Hum Genet. 2016 12; 24(12):1739-1745. PMID: 27436265; PMCID: PMC5117939.
      Citations: 13     Fields:    Translation:Humans
    107. Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Bohring A, Carter E, Cho TJ, Fletcher E, Krakow D, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP, Addor MC, Ad?s LC, Bertola D, Duba HC, Kim CA, Morava E, Strom TM. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. Am J Hum Genet. 2016 08 04; 99(2):392-406. PMID: 27426733; PMCID: PMC4974064.
      Citations: 29     Fields:    Translation:HumansCells
    108. van der Werf IM, Buiting K, Czeschik C, Reyniers E, Vandeweyer G, Vanhaesebrouck P, Wieczorek D, Horsthemke B, Mortier G, Leroy JG, Kooy RF, L?decke HJ. Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. Eur J Hum Genet. 2016 12; 24(12):1724-1729. PMID: 27406249; PMCID: PMC5117931.
      Citations: 13     Fields:    Translation:HumansCells
    109. Deden F, Eggermann K, Eggermann T, Wieczorek D, Sellhaus B, Yamoah A, Goswami A, Claeys KG, Weis J, Zerres K, Rudnik-Sch?neborn S. Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations. Muscle Nerve. 2016 09; 54(3):496-500. PMID: 26998597.
      Citations: 4     Fields:    Translation:Humans
    110. Gatinois V, Riehmer V, Becker J, Thoenes M, Barat-Houari M, Elcioglu NH, Wieczorek D, Sarrabay G, Baynam G, Sanchez E, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Sanlaville D, Giuliano F, Boduroglu K, Zoll B, Verloes A, Touitou I, Netzer C, Li Y, Wollnik B, B?gershausen N, Kayserili H, Simsek-Kiper P?, Tinschert S, Strom TM, Fabre A, N?rnberg G, Cormier-Daire V, Le Quan Sang KH, Kayirangwa H, N?rnberg P, Meitinger T, Lyonnet S, Tzschach A, Di Donato N, Genevi?ve D, Yigit G. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Hum Mutat. 2016 09; 37(9):847-64. PMID: 27302555.
      Citations: 67     Fields:    Translation:Humans
    111. Wolf C, Rapp A, Berndt N, Staroske W, Schuster M, Dobrick-Mattheuer M, Kretschmer S, K?nig N, Kurth T, Wieczorek D, Kast K, Cardoso MC, G?nther C, Lee-Kirsch MA. RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA. Nat Commun. 2016 05 27; 7:11752. PMID: 27230542; PMCID: PMC4895045.
      Citations: 79     Fields:    Translation:HumansCells
    112. Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Bitoun P, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR, Dollfus H, Meire F, Van Maldergem L, Wieczorek D, Doco-Fenzy M, Prieur F. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. PLoS One. 2016; 11(4):e0153757. PMID: 27124303; PMCID: PMC4849793.
      Citations: 27     Fields:    Translation:HumansCells
    113. Roll C, Schindler D, Gembruch U, Klempert I, Buiting K, Bramswig NC, Wieczorek D, Mikat B. X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. Clin Dysmorphol. 2016 Apr; 25(2):73-6. PMID: 26683739.
      Citations: 5     Fields:    Translation:HumansCells
    114. Grothaus K, Kanber D, Gellhaus A, Mikat B, Kolarova J, Siebert R, Wieczorek D, Horsthemke B. Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment. Epigenetics. 2016 03 03; 11(3):216-26. PMID: 26890210; PMCID: PMC4854546.
      Citations: 5     Fields:    Translation:HumansCells
    115. Puisac B, Ayerza A, Ramos FJ, Teresa-Rodrigo ME, Eckhold J, Pozojevic J, Parenti I, Baquero-Montoya C, Gil-Rodr?guez MC, Braunholz D, Dalski A, Hern?ndez-Marcos M, Bernal ML, Wieczorek D, Gillessen-Kaesbach G, Pi? J, Kaiser FJ. Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. Biomed Res Int. 2016; 2016:8742939. PMID: 26925417; PMCID: PMC4746300.
      Citations: 8     Fields:    Translation:HumansCells
    116. Mikat B, Timmann D, Wieczorek D, Z?hlke C, Gillessen-Kaesbach G, B?rk K. Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing. Cerebellum Ataxias. 2015; 2:19. PMID: 26677414; PMCID: PMC4681123.
      Citations: 15     
    117. Beleggia F, Thiele H, Wollnik B, Yigit G, Wieczorek D, B?gershausen N, M?ller-Hartmann C, Altm?ller J, N?rnberg P. A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation. Am J Med Genet A. 2016 Mar; 170(3):728-33. PMID: 26640080.
      Citations: 8     Fields:    Translation:Humans
    118. Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N, Wieczorek D, Albrecht B, Kuechler A. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? Am J Med Genet A. 2016 Jan; 170A(1):94-102. PMID: 26358559.
      Citations: 4     Fields:    Translation:Humans
    119. Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, Zink AM, Becker J, Wohlleber E, Johannsen J, Pfundt R, Fuchs S, van Gassen KL, Kleefstra T, Kubisch C, Engels H, Lessel D, Haack TB, Alhaddad B, Wieczorek D, Strom TM. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. Am J Hum Genet. 2015 Sep 03; 97(3):493-500. PMID: 26340335; PMCID: PMC4564986.
      Citations: 47     Fields:    Translation:HumansCells
    120. Tsai IC, Pohl E, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Li Y, Katsanis N, Wollnik B, B?gershausen N, Kiper P?, Kayserili H, Yigit G. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J Clin Invest. 2015 Sep; 125(9):3585-99. PMID: 26280580; PMCID: PMC4588287.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    121. Ockeloen CW, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Kleefstra T, Bramswig NC, Czeschik JC, Strom TM, Wieczorek D, L?decke HJ. 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. Hum Genet. 2015 Oct; 134(10):1089-97. PMID: 26264464.
      Citations: 14     Fields:    Translation:Humans
    122. Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Csaicsich D, Castro C, Assoum M, Wieczorek D, Mancini GM, Sadowski CE, Godbole K, Schanze D, Hildebrandt F, Janecke AR, Zenker M, Stei? JO, Hahn A, M?ller T, L?vy N, M?garban? A, Delague V. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. Hum Mutat. 2015 Nov; 36(11):1021-8. PMID: 26123727; PMCID: PMC4616260.
      Citations: 27     Fields:    Translation:HumansCells
    123. Srivastava S, Engels H, Schanze I, Cremer K, Menzel M, Schubach M, Biskup S, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S, Wieland T, Krei? M, Endele S, Strom TM, Wieczorek D. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet. 2016 Apr; 24(4):556-61. PMID: 26153216; PMCID: PMC4929870.
      Citations: 20     Fields:    Translation:Humans
    124. Senderek J, Eggermann K, Elbracht M, Kirschner J, Schara U, Wieczorek D, Zerres K, Rudnik-Sch?neborn S, T?lle D, Kornak U, von der Hagen M, Leube B, M?ller-Felber W, von Au K, Bu?mann C. Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet. 2016 Jan; 89(1):34-43. PMID: 25850958.
      Citations: 35     Fields:    Translation:Humans
    125. Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, Lourenco CM, Hopkin RJ, Trainor PA, Saal HM, K?nig R, Hehr U, Lohmann DR, Wieczorek D. Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. Am J Hum Genet. 2015 May 07; 96(5):765-74. PMID: 25913037; PMCID: PMC4570288.
      Citations: 39     Fields:    Translation:HumansAnimalsCells
    126. Jackson CB, Murayama K, Kotzaeridou U, de Vries MC, Santra S, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Sperl W, Hoffmann GF, Mayr JA, Bolognini R, Nuoffer JM, Klopstock T, Haack TB, Kremer LS, Schaller A, Schottmann G, B?chner B, Wieland T, Graf E, Albrecht B, Wieczorek D, Trollmann R, Strom TM, Meitinger T, Schuelke M, K?lker S, Prokisch H. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann Clin Transl Neurol. 2015 May; 2(5):492-509. PMID: 26000322; PMCID: PMC4435704.
      Citations: 52     Fields:    
    127. Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D, Bramswig NC, L?decke HJ, Guill?n-Navarro E, Kiper P?, L?pez-Gonz?lez V. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet. 2015 Jun; 134(6):553-68. PMID: 25724810.
      Citations: 40     Fields:    Translation:HumansCTClinical Trials
    128. Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H, Bauer M, K?lsch U, Kr?ger R. Infectious and immunologic phenotype of MECP2 duplication syndrome. J Clin Immunol. 2015 Feb; 35(2):168-81. PMID: 25721700; PMCID: PMC7101860.
      Citations: 16     Fields:    Translation:Humans
    129. Caliebe A, Koenig R, Kant SG, Stark Z, Kawalia A, Thiele H, Harabula I, Siebert R, Manzke H, Ehmke N, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Altm?ller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, N?rnberg P, Mundlos S. Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. Am J Hum Genet. 2014 Dec 04; 95(6):763-70. PMID: 25480037; PMCID: PMC4259972.
      Citations: 19     Fields:    Translation:HumansCells
    130. Newman WG, Beetz C, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, van Essen AJ, Hazan F, Park S, Hing A, Ludwig KU, Mangold E, Lourenco CM, Hehr U, O'Keefe RT, Burn J, Wieczorek D, Wieland T, Berulava T, Kaffe M, Falkenstein D, Graf E, Schwarzmayr T, Boute O, Gundlach J, Czeschik JC, Kuechler A, Lohmann DR, Steenpa? L, Zeschnigk M, Lemke JR, Prott EC, Waldenberger M, B?hmer AC, Horsthemke B, Meitinger T, L?decke HJ, Strom TM. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. Am J Hum Genet. 2014 Dec 04; 95(6):698-707. PMID: 25434003; PMCID: PMC4259969.
      Citations: 36     Fields:    Translation:HumansCells
    131. Gannon T, Perveen R, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Borck G, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Newbury-Ecob R, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Bijlsma E, Veenstra-Knol HE, Lo IF, DDD study, Smith J, Clayton-Smith J, Schlecht H, Lyonnet S, Cormier-Daire V, Yilmaz R, Wieczorek D, Maystadt I, Destr?e A, Sznajer Y, Toutain A, Haye D, Fradin M, Doco-Fenzy M, Unger S, Kohlhase J. Further delineation of the KAT6B molecular and phenotypic spectrum. Eur J Hum Genet. 2015 Sep; 23(9):1165-70. PMID: 25424711; PMCID: PMC4351891.
      Citations: 27     Fields:    Translation:Humans
    132. Balliu B, W?rtz RP, Horsthemke B, Wieczorek D, B?hringer S. Classification and visualization based on derived image features: application to genetic syndromes. PLoS One. 2014; 9(11):e109033. PMID: 25405460; PMCID: PMC4236018.
      Citations: 6     Fields:    Translation:Humans
    133. Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, He W, Hogue JS, Kempers M, Koolen D, Monroe G, de Munnik S, Pastore M, Reuter MS, Tegay DH, Veltman J, Visser G, van Hasselt P, Smeets EE, Vissers L, Wieland T, Wissink W, Yntema H, Zink AM, Strom TM, Kleefstra T, Wieczorek D, Kuechler A, B?ttner C, Reis A, L?decke HJ. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. 2015 Jan; 134(1):97-109. PMID: 25326669.
      Citations: 56     Fields:    Translation:Humans
    134. Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Wedell A, Freyer C, Wredenberg A, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M, Nordenskj?ld M, Wieczorek D, Gillessen-Kaesbach G, Kayserili H. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet. 2014 Sep 04; 95(3):285-93. PMID: 25152457; PMCID: PMC4157144.
      Citations: 43     Fields:    Translation:HumansCells
    135. Zink AM, Cremer K, Salviati L, Najafi K, Aretz S, Pinato C, Clementi M, Maylahn C, Wohlleber E, Kariminejad R, Schlessinger A, Novarino G, Engels H, Kuechler A, Wieland T, L?decke HJ, Magini P, Zweier C, Czeschik JC, Endele S, Tamburrino F, Gundlach J, Mazzanti L, Schwarzmayr T, Wieczorek D, Strom TM. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet. 2015 Jun; 23(6):753-60. PMID: 25138099; PMCID: PMC4795044.
      Citations: 35     Fields:    Translation:HumansCells
    136. Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. 2014 Sep; 166C(3):290-301. PMID: 25099957.
      Citations: 19     Fields:    Translation:Humans
    137. Bondesan R, Wieczorek D, Zirnbauer MR. Pure scaling operators at the integer quantum Hall plateau transition. Phys Rev Lett. 2014 May 09; 112(18):186803. PMID: 24856714.
      Citations:    Fields:    
    138. Borck G, de Vries L, Wu HJ, Smirin-Yosef P, Lagovsky I, Ishida LH, Thierry P, Wieczorek D, Foley J, Kubisch C, Basel-Vanagaite L, N?rnberg G, N?rnberg P. Homozygous truncating PTPRF mutation causes athelia. Hum Genet. 2014 Aug; 133(8):1041-7. PMID: 24781087.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    139. Mirzaa G, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KPJ, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J, FORGE Canada Consortium, Boycot KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG, Faivre L, Rivi?re JB, St-Onge J. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May; 46(5):510-515. PMID: 24705253; PMCID: PMC4004933.
      Citations: 70     Fields:    Translation:HumansAnimalsCells
    140. Czeschik JC, Albrecht B, Kuechler A, Wagner N, Wieczorek D, Kayserili H, L?decke HJ. A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome. Clin Dysmorphol. 2014 Apr; 23(2):67-70. PMID: 24561647.
      Citations: 1     Fields:    Translation:HumansCells
    141. Pivarcsi M, Liebe J, von Bernuth H, Didonato N, Hennermann JB, Wieczorek D, Kaindl AM, von der Hagen M, B?hrer C. Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature. Dev Med Child Neurol. 2014 Aug; 56(8):732-41. PMID: 24617602.
      Citations: 69     Fields:    Translation:Humans
    142. Passos-Bueno MR, Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, N?rnberg G, Wieczorek D, van Maldergem L, Doray B. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. Genet Med. 2014 Sep; 16(9):720-4. PMID: 24603435.
      Citations: 26     Fields:    Translation:Humans
    143. Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, van den Ende J, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Golabi M, Blair E, Male A, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM, F?lix TM, Wisniewska M, Kayserili H, Repetto GM, Giuliano F, Wieczorek D. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan; 13(1):44-58. PMID: 24291220; PMCID: PMC3895324.
      Citations: 54     Fields:    Translation:Humans
    144. Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. Eur J Hum Genet. 2014 Jul; 22(7):881-7. PMID: 24281367; PMCID: PMC3938398.
      Citations: 35     Fields:    Translation:Humans
    145. Murray JE, Bicknell LS, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP, Yigit G, Kayserili H, Ad?s L, N?rnberg P. Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat. 2014 Jan; 35(1):76-85. PMID: 24123394; PMCID: PMC3995017.
      Citations: 42     Fields:    Translation:HumansCells
    146. Metcalfe K, Baric I, Cuk M, Horn D, Wieczorek D, Pale?ac L, Petkovic Ramad?a D, Kr?ger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P. Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. Eur J Hum Genet. 2014 Jun; 22(6):762-7. PMID: 24129430; PMCID: PMC4023216.
      Citations: 17     Fields:    Translation:HumansCells
    147. Hehr U, Hartmann B, Rosenbaum T, Schweiger B, Wieczorek D, Czeschik JC, L?decke HJ. 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. Eur J Med Genet. 2013 Dec; 56(12):689-94. PMID: 24120487.
      Citations: 7     Fields:    Translation:Humans
    148. Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Wollnik B, Zeschnigk M, Wieczorek D, Zweier C, Reis A, L?decke HJ. A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. J Med Genet. 2013 Dec; 50(12):838-47. PMID: 24092917.
      Citations: 24     Fields:    Translation:Humans
    149. Bauer P, Buiting K, Dufke C, Johnson DS, Koehler U, Male A, Morrogh D, Tzschach A, Wieczorek D, Kuechler A, Czeschik JC, Guill?n-Navarro E, L?pez-Gonz?lez V, L?decke HJ, Rie? A. X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. Orphanet J Rare Dis. 2013 Sep 21; 8:146. PMID: 24053514; PMCID: PMC4015352.
      Citations: 10     Fields:    Translation:Humans
    150. Wang Y, Hu H, Ma Y, Jens M, Maaskola J, Murakawa Y, Quedenau C, Landthaler M, Kalscheuer V, Wieczorek D, Wang Y, Hu Y, Chen W, Gogol-D?ring A, Fr?hler S. Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Mol Med. 2013 Sep; 5(9):1431-42. PMID: 24000153; PMCID: PMC3799496.
      Citations: 60     Fields:    Translation:HumansCells
    151. Beleggia F, Pohl E, Li Y, Milz E, Martin M, Thiele H, Alanay Y, Klein-Hitpass L, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Hayek J, Houge G, Kilic E, Kuechler A, Lyonnet S, Mari F, Marozza A, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Rahmann S, Vermeesch J, Zeschnigk M, Wollnik B, Wieczorek D, B?gershausen N, Steiner-Haldenst?tt S, Altm?ller J, Kayserili H, B?hringer S, Guill?n-Navarro E, Simsek-Kiper P?, L?pez-Gonz?lez V, Mathieu Dramard M, N?rnberg P, L?decke HJ. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013 Dec 20; 22(25):5121-35. PMID: 23906836.
      Citations: 99     Fields:    Translation:Humans
    152. Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F, K?hler G. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet. 2013 Aug 08; 93(2):336-45. PMID: 23891469; PMCID: PMC3738827.
      Citations: 98     Fields:    Translation:HumansAnimalsCells
    153. Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Wieczorek D, Voigt C, M?garban? A, K?nig R, L?decke HJ. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet J Rare Dis. 2013 Jul 24; 8:110. PMID: 23879989; PMCID: PMC3727992.
      Citations: 21     Fields:    Translation:Humans
    154. Grasemann C, Schweiger B, Bergmann C, Herrmann R, Wieczorek D, Zabel B, Wieland R, Hauffa BP, Sch?ndeln MM, H?vel M. Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease. J Clin Endocrinol Metab. 2013 Aug; 98(8):3121-6. PMID: 23788687.
      Citations: 45     Fields:    Translation:Humans
    155. Freunscht I, Popp B, Blank R, Endele S, Moog U, Petri H, Prott EC, Reis A, Zabel B, Zenker M, Hebebrand J, Wieczorek D, R?bo J. Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. Behav Brain Funct. 2013 May 29; 9:20. PMID: 23718928; PMCID: PMC3685602.
      Citations: 29     Fields:    Translation:Humans
    156. Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D, Missirian C. Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. Eur J Hum Genet. 2014 Feb; 22(2):289-92. PMID: 23674175; PMCID: PMC3895633.
      Citations: 21     Fields:    Translation:Humans
    157. Goubau C, Devriendt K, Van der Aa N, Crepel A, Wieczorek D, Kleefstra T, Willemsen MH, Rauch A, Tzschach A, de Ravel T, Leemans P, Van Geet C, Buyse G, Freson K. Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. Eur J Hum Genet. 2013 Dec; 21(12):1349-55. PMID: 23632790; PMCID: PMC3831085.
      Citations: 7     Fields:    Translation:HumansCells
    158. Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Zeschnigk M, Wieczorek D, Czeschik JC, L?pez-Gonz?lez V, L?decke HJ. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet. 2013 Aug; 132(8):885-98. PMID: 23568615.
      Citations: 30     Fields:    Translation:HumansCells
    159. Wieczorek D. Human facial dysostoses. Clin Genet. 2013 Jun; 83(6):499-510. PMID: 23565775.
      Citations: 27     Fields:    Translation:Humans
    160. Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Doerr HG, Rauch A, Thiel CT, Reis A. Rare copy number variants are a common cause of short stature. PLoS Genet. 2013; 9(3):e1003365. PMID: 23516380; PMCID: PMC3597495.
      Citations: 36     Fields:    Translation:HumansAnimals
    161. Voigt C, Goecke TO, Wagner N, Kuechler A, Wieczorek D, Czeschik JC, L?decke HJ. Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. Am J Med Genet A. 2013 Feb; 161A(2):295-300. PMID: 23307537.
      Citations: 13     Fields:    Translation:Humans
    162. Longoni M, Lage K, Russell MK, Loscertales M, Abdul-Rahman OA, Baynam G, Bleyl SB, Brady PD, Breckpot J, Chen CP, Devriendt K, Gillessen-Kaesbach G, Grix AW, Rope AF, Shimokawa O, Strauss B, Wieczorek D, Zackai EH, Coletti CM, Maalouf FI, Noonan KM, Park JH, Tracy AA, Lee C, Donahoe PK, Pober BR. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. Am J Med Genet A. 2012 Dec; 158A(12):3148-58. PMID: 23165946; PMCID: PMC3761361.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    163. Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ, Rie? A, Linn? M. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum Mutat. 2013 Jan; 34(1):237-47. PMID: 23033313; PMCID: PMC5497464.
      Citations: 20     Fields:    Translation:HumansCells
    164. Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Wieacker P, Riess O, Meitinger T, Strom TM, R?pke A, Schr?ck E, Reis A. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012 Nov 10; 380(9854):1674-82. PMID: 23020937.
      Citations: 520     Fields:    Translation:Humans
    165. Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J. A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet. 2012 Oct 05; 91(4):694-702. PMID: 23000143; PMCID: PMC3484651.
      Citations: 58     Fields:    Translation:HumansAnimalsCells
    166. Stein A, Hehr U, Karen T, Elcioglu NH, Bogdanova N, Woike HF, Lohmann DR, Felderhoff-Mueser U, Linz A, Wieczorek D, Schlump JU, M?ller-Hartmann C. Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. Eur J Pediatr. 2012 Nov; 171(11):1611-8. PMID: 22729243.
      Citations: 9     Fields:    Translation:Humans
    167. Rainger J, Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, Riess A, Ansari M, Smithson S, Lees M, Mercer C, McKenzie K, Lengfeld T, Gener Querol B, Branney P, McKay S, Morrison H, Medina B, Robertson M, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR, Kohlhase J. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet. 2012 Sep 15; 21(18):3969-83. PMID: 22692683.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    168. Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H, Ropers HH, Sigrist SJ, Kuss AW, Abbasi-Moheb L, Wei?mann R. Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet. 2012 May 04; 90(5):847-55. PMID: 22541559; PMCID: PMC3376487.
      Citations: 127     Fields:    Translation:HumansAnimals
    169. Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Zink AM, Rappold G, Wieczorek D, Riess O, Engels H, Rauch A, G?hring I, Schr?ck E, Reis A. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet. 2012 Mar 09; 90(3):565-72. PMID: 22405089; PMCID: PMC3309205.
      Citations: 130     Fields:    Translation:HumansCells
    170. Van Houdt JK, Nowakowska BA, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, Bottani A, Castori M, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR, Sousa SB, van den Boogaard MJ, Cormier-Daire V. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet. 2012 Feb 26; 44(4):445-9, S1. PMID: 22366787.
      Citations: 108     Fields:    Translation:HumansCells
    171. Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Grix AW, Lohmann DR, Hehr U, FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM, Baujat G, Kohlhase J, B?hm D. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet. 2012 Feb 10; 90(2):369-77. PMID: 22305528; PMCID: PMC3276671.
      Citations: 89     Fields:    Translation:HumansCells
    172. Buiting K, Seland S, Hehr U, Lich C, Prager B, Lohmann DR, Wieczorek D, Beygo J, L?decke HJ. First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome. Mol Syndromol. 2012 Jan; 2(2):53-59. PMID: 22712005; PMCID: PMC3326662.
      Citations: 12     
    173. Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J, FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet. 2012 Feb 10; 90(2):308-13. PMID: 22265015; PMCID: PMC3276662.
      Citations: 71     Fields:    Translation:HumansCells
    174. Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH, P?ttmann L. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21; 478(7367):57-63. PMID: 21937992.
      Citations: 419     Fields:    Translation:HumansCells
    175. Eidson M, Wahlstrom J, Beaulieu AM, Zaidi B, Carsons SE, Crow PK, Yuan J, Wolchok JD, Horsthemke B, Wieczorek D, Sant'Angelo DB. Altered development of NKT cells, ?d T cells, CD8 T cells and NK cells in a PLZF deficient patient. PLoS One. 2011; 6(9):e24441. PMID: 21915328; PMCID: PMC3167854.
      Citations: 34     Fields:    Translation:HumansCells
    176. Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet. 2012 Aug; 82(2):140-6. PMID: 21815888; PMCID: PMC3816635.
      Citations: 20     Fields:    Translation:Humans
    177. Guenther M, Sinigerova S, Wurtz RP, Horsthemke B, Wieczorek D, Boehringer S. Automated syndrome detection in a set of clinical facial photographs. Am J Med Genet A. 2011 Sep; 155A(9):2161-9. PMID: 21815261.
      Citations: 15     Fields:    Translation:Humans
    178. Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Semerci CN, Khan A, Zafar S, Hennekam R, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR, M?garban? A, Sousa SB. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet. 2011 Jul; 7(7):e1002114. PMID: 21750680; PMCID: PMC3131273.
      Citations: 42     Fields:    Translation:HumansAnimals
    179. Buysse K, Clayton-Smith J, David A, Engels H, Mari F, Mortier G, Renieri A, Wieczorek D, Kuechler A, Le Caignec C, Kohlhase J. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. Am J Med Genet A. 2011 Aug; 155A(8):1857-64. PMID: 21739578.
      Citations: 10     Fields:    Translation:HumansCells
    180. Hoischen A, van Bon BW, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB, Rodr?guez-Santiago B. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 2011 Jun 26; 43(8):729-31. PMID: 21706002.
      Citations: 120     Fields:    Translation:Humans
    181. Boehringer S, van der Lijn F, Liu F, Sinigerova S, Nowak S, Ludwig KU, Herberz R, Klein S, Hofman A, Uitterlinden AG, Niessen WJ, Breteler MM, van der Lugt A, Horsthemke B, Wieczorek D, Mangold E, Kayser M, G?nther M, W?rtz RP, N?then MM. Genetic determination of human facial morphology: links between cleft-lips and normal variation. Eur J Hum Genet. 2011 Nov; 19(11):1192-7. PMID: 21694738; PMCID: PMC3198142.
      Citations: 44     Fields:    Translation:Humans
    182. Li Y, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Demuth S, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Wieczorek D, Wollnik B, B?gershausen N, Lehmk?hler M, Utine GE, Yigit G. A mutation screen in patients with Kabuki syndrome. Hum Genet. 2011 Dec; 130(6):715-24. PMID: 21607748.
      Citations: 52     Fields:    Translation:Humans
    183. He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science. 2011 Apr 08; 332(6026):238-40. PMID: 21474760; PMCID: PMC3380448.
      Citations: 118     Fields:    Translation:HumansCells
    184. Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Kutsche K, Dobyns WB, Kort?m F, Uyanik G. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun; 48(6):396-406. PMID: 21441262; PMCID: PMC5522617.
      Citations: 100     Fields:    Translation:HumansCells
    185. Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, Wagner N, Rossier E, Jauch A, Walter M, Bauer C, Bauer P, Horber K, Beck-Woedl S, Wieczorek D, Grasshoff U. De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. Eur J Hum Genet. 2011 May; 19(5):507-12. PMID: 21326285; PMCID: PMC3083613.
      Citations: 21     Fields:    Translation:Humans
    186. Hastings R, Cobben JM, Gillessen-Kaesbach G, Goodship J, Hove H, Kjaergaard S, Kemp H, Kingston H, Lunt P, Mansour S, McGowan R, Metcalfe K, Murdoch-Davis C, Ray M, Smithson S, Tolmie J, Turnpenny P, van Bon B, Wieczorek D, Newbury-Ecob R, Rio M. Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. Eur J Hum Genet. 2011 May; 19(5):513-9. PMID: 21368916; PMCID: PMC3083618.
      Citations: 16     Fields:    Translation:Humans
    187. Kalay E, Aslan Y, Brown KE, Pohl E, Bicknell LS, Li Y, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Wollnik B, Yigit G, Kayserili H, T?ys?z B, N?rnberg G, N?rnberg P, Karag?zel A. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011 Jan; 43(1):23-6. PMID: 21131973; PMCID: PMC3430850.
      Citations: 126     Fields:    Translation:HumansCells
    188. Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D, Toral JF. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011 Jan; 43(1):20-2. PMID: 21131976.
      Citations: 140     Fields:    Translation:Humans
    189. Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet. 2011 Feb; 129(2):141-8. PMID: 21063731.
      Citations: 24     Fields:    
    190. Wawrzik M, Gross S, Lich C, Sauer B, Rost I, Krasemann E, Kosyakova N, Liehr T, Weise A, Dybowski JN, Hoffmann D, Wieczorek D, Horsthemke B. Parental origin and functional relevance of a de novo UBE3A variant. Eur J Med Genet. 2011 Jan-Feb; 54(1):19-24. PMID: 20933619.
      Citations: 6     Fields:    Translation:HumansCells
    191. Albrecht B, Wieczorek D, Schmidt H, Keller T, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M, Rivera-Brugu?s N, G?hring I. Cohen syndrome diagnosis using whole genome arrays. J Med Genet. 2011 Feb; 48(2):136-40. PMID: 20921020.
      Citations: 11     Fields:    Translation:HumansCells
    192. Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Wieczorek D, Van Maldergem L, Kutsche K, Kort?m F, Kohlhase J, T?nnies H, Reis A. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010 Nov; 42(11):1021-6. PMID: 20890276.
      Citations: 236     Fields:    Translation:HumansCells
    193. Allanson JE, Bohring A, Dufke A, Gillessen-Kaesbach G, Horn D, Kratz CP, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M, D?rr HG, K?nig R. The face of Noonan syndrome: Does phenotype predict genotype. Am J Med Genet A. 2010 Aug; 152A(8):1960-6. PMID: 20602484; PMCID: PMC3115585.
      Citations: 23     Fields:    Translation:Humans
    194. Chiaie BD, Gillessen-Kaesbach G, Bohring A, Caliebe A, Siebert R, Roepke A, Ramos-Arroyo MA, Nieva B, Loeys B, Mortier G, Wieczorek D, Mitter D, L?decke HJ, Kohlhase J, Menten B. Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1. Am J Med Genet A. 2010 May; 152A(5):1213-24. PMID: 20425826.
      Citations: 13     Fields:    Translation:HumansCells
    195. Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, Ikonomidou C, Thomas K, Proud V, Niemann F, Wieczorek D, Niggemann P, Baltaci V, Conrad K, Lebon P, Lee-Kirsch MA, Ramantani G, Kohlhase J, von St?lpnagel C, H?usler M. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Gouti?res syndrome. Arthritis Rheum. 2010 May; 62(5):1469-77. PMID: 20131292.
      Citations: 90     Fields:    Translation:Humans
    196. Kobayashi T, Aoki Y, Niihori T, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y, Cav? H. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat. 2010 Mar; 31(3):284-94. PMID: 20052757.
      Citations: 58     Fields:    Translation:HumansAnimalsCells
    197. Albrecht B, Wieczorek D, Lechno S, Zechner U, Haaf T, Bartsch O, Labont? J. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet A. 2010 Jan; 152A(1):181-4. PMID: 20014264.
      Citations: 28     Fields:    Translation:Humans
    198. Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B, Wieczorek D. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. Hum Mutat. 2010 Jan; 31(1):81-9. PMID: 19847792.
      Citations: 45     Fields:    Translation:HumansCells
    199. Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tylki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RC, Hahn J, Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrick S, Cummings DA, Bous SM, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M, Dubourg C, V?lez JI. Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet. 2010 Aug; 47(8):513-24. PMID: 19955556; PMCID: PMC3208626.
      Citations: 36     Fields:    Translation:Humans
    200. Bartsch O, Lechno S, Peters DJ, Dauwerse H, Gillessen-Kaesbach G, Hennekam RC, Passarge E, Wieczorek D, Kohlhase J. Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers. Am J Med Genet A. 2009 Dec; 149A(12):2849-54. PMID: 19938080.
      Citations: 5     Fields:    Translation:Humans
    201. Garcia-Angarita N, Kirschner J, Heiliger M, Thirion C, Walter MC, Schnittfeld-Acarlioglu S, Albrecht M, Wieczorek D, Krause S, M?ller K, Lochm?ller H. Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. Neuromuscul Disord. 2009 Jul; 19(7):481-4. PMID: 19553116.
      Citations: 6     Fields:    Translation:HumansCells
    202. Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A. A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. Eur J Hum Genet. 2009 Dec; 17(12):1592-9. PMID: 19471318; PMCID: PMC2987012.
      Citations: 36     Fields:    Translation:HumansCells
    203. Gener B, Seland S, Fischer S, Hehr U, Kuechler A, Hoefsloot LH, de Leeuw N, Gillessen-Kaesbach G, Lohmann DR, Wieczorek D, Gonz?lez MJ. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. Am J Med Genet A. 2009 May; 149A(5):837-43. PMID: 19334086.
      Citations: 14     Fields:    Translation:Humans
    204. Azzarello-Burri S, Gillessen-Kaesbach G, Meinecke P, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K, Harmsen MB, Garc?a Gonz?lez MM, M?ller D. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. Eur J Hum Genet. 2009 Oct; 17(10):1207-15. PMID: 19277062; PMCID: PMC2986635.
      Citations: 7     Fields:    Translation:HumansCells
    205. Giltay J, Wieczorek D, Zogel C, Hochstenbach R, Caliebe A, Kuechler A, Horsthemke B, Buiting K, Kanber D. A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet. 2009 May; 17(5):582-90. PMID: 19066619; PMCID: PMC2986273.
      Citations: 67     Fields:    Translation:HumansCells
    206. Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E, Meire F. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov; 29(11):E205-19. PMID: 18642388.
      Citations: 13     Fields:    Translation:HumansCells
    207. Ruhr F, Wieczorek D, Cremer K, L?decke HJ. Left-ventricular non-compaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expected. Eur J Med Genet. 2008 Nov-Dec; 51(6):685-8. PMID: 18721913.
      Citations: 8     Fields:    Translation:HumansCells
    208. Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Blankenburg M, Mundlos S, Heller R, Hoffmann K, Michalk A, K?rber F. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet. 2008 Feb; 82(2):464-76. PMID: 18252226; PMCID: PMC2427255.
      Citations: 41     Fields:    Translation:HumansAnimals
    209. Maus B, Wurtz RP, Gillessen-Kaesbach G, Horsthemke B, Wieczorek D, Boehringer S, Vollmar T. Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces. Eur J Med Genet. 2008 Jan-Feb; 51(1):44-53. PMID: 18054308.
      Citations: 13     Fields:    Translation:Humans
    210. Roeder E, Purmann S, Wieczorek D, Curry C, Loustalet C, Hellenbroich Y, Richardt HH, Gillessen-Kaesbach G, Z?hlke C. Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature. Am J Med Genet A. 2007 Sep 01; 143A(17):2058-61. PMID: 17663477.
      Citations: 2     Fields:    Translation:Humans
    211. Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet. 2007 Oct; 44(10):651-6. PMID: 17586837; PMCID: PMC2597961.
      Citations: 37     Fields:    Translation:HumansCells
    212. Shaw-Smith C, Schmitt W, Buiting K, Coffey A, Howard E, Hehr U, Gillessen-Kaesbach G, Wieczorek D, Kohlhase J. Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? Am J Med Genet A. 2007 Jun 01; 143A(11):1135-42. PMID: 17497718.
      Citations: 8     Fields:    Translation:Humans
    213. Narumi Y, Aoki Y, Niihori T, Neri G, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y, Cav? H. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A. 2007 Apr 15; 143A(8):799-807. PMID: 17366577.
      Citations: 29     Fields:    Translation:HumansCells
    214. Ludwig M, Boehringer S, Jongbloet PH, Gillessen-Kaesbach G, Horsthemke B, Wieczorek D. Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Hum Genet. 2007 May; 121(3-4):369-76. PMID: 17297623.
      Citations: 9     Fields:    Translation:Humans
    215. Majewski F, Fischer S, Gillessen-Kaesbach G, Wieczorek D, Tasse C, B?hringer S, L?decke HJ. A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol. 2007 Jan; 16(1):1-7. PMID: 17159507.
      Citations: 21     Fields:    Translation:Humans
    216. Wieczorek D, Gillessen-Kaesbach G. Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. Am J Med Genet A. 2006 Nov 01; 140(21):2381-2; author reply 2383-4. PMID: 17022072.
      Citations: 1     Fields:    Translation:Humans
    217. Prott EC, Trost D, Hoischen A, Walldorf C, Radlwimmer B, Wieczorek D, Propping P, Gillessen-Kaesbach G, Weber RG, Engels H, Brenk CH. Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. Eur J Hum Genet. 2007 Jan; 15(1):35-44. PMID: 17024214.
      Citations: 16     Fields:    Translation:HumansCells
    218. Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann UA, Prott EC, Wieczorek D, Gillessen-Kaesbach G, Mitter D. Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Am J Med Genet A. 2006 Oct 01; 140(19):2039-49. PMID: 16906536.
      Citations: 21     Fields:    Translation:HumansCells
    219. Vollmar T, Tasse C, Wurtz RP, Gillessen-Kaesbach G, Horsthemke B, Wieczorek D, Boehringer S. Syndrome identification based on 2D analysis software. Eur J Hum Genet. 2006 Oct; 14(10):1082-9. PMID: 16773127.
      Citations: 21     Fields:    Translation:Humans
    220. Niihori T, Aoki Y, Narumi Y, Neri G, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y, Cav? H. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet. 2006 Mar; 38(3):294-6. PMID: 16474404.
      Citations: 201     Fields:    Translation:HumansCells
    221. Wieczorek D, Gillessen-Kaesbach G, Horsthemke B, Fischer S, L?decke HJ, B?hringer S. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum Mol Genet. 2006 Feb 15; 15(4):581-7. PMID: 16407370.
      Citations: 18     Fields:    Translation:HumansCells
    222. Fischer S, Albrecht B, Horn D, Janecke A, Kling R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Gillessen-Kaesbach G, Wieczorek D, Tasse C, B?hringer S, L?decke HJ, K?nig R, Kohlhase J. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005 Oct-Dec; 48(4):397-411. PMID: 16378924.
      Citations: 37     Fields:    Translation:Humans
    223. Chyrek M, Kleier S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K, Horn D, L?ttgen S. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet. 2005 May; 13(5):563-9. PMID: 15770227.
      Citations: 26     Fields:    Translation:HumansCells
    224. Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A. 2005 Jan 30; 132A(3):265-72. PMID: 15690370.
      Citations: 31     Fields:    Translation:HumansCells
    225. Gillessen-Kaesbach G, Fischer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, Kunstmann E, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D, Teber OA, B?hringer S, K?nig R, Kunze J. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 2004 Nov; 12(11):879-90. PMID: 15340364.
      Citations: 48     Fields:    Translation:Humans
    226. Kutsche K, Bolz H, Gal A, Almassy Z, Caliebe A, Freisinger P, Hobbiebrunken E, Morlot M, Stefanova M, Streubel B, Wieczorek D, Meinecke P, Tr?ger B, L?ttgen S. No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome. Am J Med Genet A. 2003 Aug 15; 121A(1):82-4. PMID: 12900909.
      Citations: 2     Fields:    Translation:Humans
    227. Wieczorek D, von der Malsburg C, Horsthemke B, Loos HS, W?rtz RP. Computer-based recognition of dysmorphic faces. Eur J Hum Genet. 2003 Aug; 11(8):555-60. PMID: 12891374.
      Citations: 22     Fields:    Translation:Humans
    228. Bartsch O, Gillessen-Kaesbach G, Wieczorek D. Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype? Am J Med Genet A. 2003 Jul 30; 120A(3):429-33. PMID: 12838568.
      Citations: 1     Fields:    Translation:HumansCells
    229. Wieczorek D, Rieder H, Louwen F, Rickert CH, Harms E, Rehder H, H?lskamp G, H?rnig-Franz I, Horst J. Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome. Clin Dysmorphol. 2003 Jul; 12(3):153-60. PMID: 14564151.
      Citations: 9     Fields:    Translation:Humans
    230. Teber OA, Lohmann D, Gillessen-Kaesbach G, Wieczorek D. Two brothers with Burn-McKeown syndrome. Clin Dysmorphol. 2003 Jul; 12(3):171-4. PMID: 14564154.
      Citations: 4     Fields:    Translation:HumansCells
    231. Prott EC, Robinson WP, Passarge E, Gillessen-Kaesbach G, Wieczorek D. Prenatally detected trisomy 4 and 6 mosaicism--cytogenetic results and clinical phenotype. Prenat Diagn. 2003 Feb; 23(2):128-33. PMID: 12575019.
      Citations: 2     Fields:    Translation:HumansCells
    232. Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet. 2003 Feb; 11(2):201-6. PMID: 12634870.
      Citations: 34     Fields:    Translation:Humans
    233. Klinge L, Schaper J, Wieczorek D, Voit T. Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. Neuropediatrics. 2002 Dec; 33(6):309-13. PMID: 12571786.
      Citations: 3     Fields:    Translation:Humans
    234. Gillessen-Kaesbach G, Wieczorek D, K?ster B. Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation. Am J Med Genet. 2002 Mar 15; 108(3):209-13. PMID: 11891687.
      Citations: 8     Fields:    Translation:Humans
    235. Harms E, Meinecke P, Wieczorek D, W?sthof A. Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. Am J Med Genet. 2001 Nov 15; 104(1):47-52. PMID: 11746027.
      Citations: 4     Fields:    Translation:Humans
    236. Prabhakar R, Boivin GP, Grupp IL, Hoit B, Arteaga G, Solaro RJ, Wieczorek DF. A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice. J Mol Cell Cardiol. 2001 Oct; 33(10):1815-28. PMID: 11603924.
      Citations: 65     Fields:    Translation:Animals
    237. Pieples K, Wieczorek DF. Tropomyosin 3 increases striated muscle isoform diversity. Biochemistry. 2000 Jul 18; 39(28):8291-7. PMID: 10889038.
      Citations: 33     Fields:    Translation:HumansAnimalsCells
    238. Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G, Wieczorek D. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Eur J Hum Genet. 2000 Jul; 8(7):519-26. PMID: 10909852.
      Citations: 14     Fields:    Translation:HumansCells
    239. Prabhakar R, Boivin GP, Hoit B, Wieczorek DF. Rescue of high expression beta-tropomyosin transgenic mice by 5-propyl-2-thiouracil. Regulating the alpha-myosin heavy chain promoter. J Biol Chem. 1999 Oct 08; 274(41):29558-63. PMID: 10506222.
      Citations: 2     Fields:    Translation:AnimalsCells
    240. Muthuchamy M, Pieples K, Rethinasamy P, Hoit B, Grupp IL, Boivin GP, Wolska B, Evans C, Solaro RJ, Wieczorek DF. Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction. Circ Res. 1999 Jul 09; 85(1):47-56. PMID: 10400910.
      Citations: 55     Fields:    Translation:Animals
    241. Holtvogt J, Thonig S, Gillessen-Kaesbach G, Wieczorek D. A female patient with partial duplication 22 (q13-->qter). Clin Dysmorphol. 1998 Oct; 7(4):289-94. PMID: 9823497.
      Citations: 3     Fields:    Translation:HumansCells
    242. Sussman MA, Lim HW, Gude N, Taigen T, Olson EN, Robbins J, Colbert MC, Gualberto A, Wieczorek DF, Molkentin JD. Prevention of cardiac hypertrophy in mice by calcineurin inhibition. Science. 1998 Sep 11; 281(5383):1690-3. PMID: 9733519.
      Citations: 108     Fields:    Translation:AnimalsCells
    243. Muthuchamy M, Boivin GP, Grupp IL, Wieczorek DF. Beta-tropomyosin overexpression induces severe cardiac abnormalities. J Mol Cell Cardiol. 1998 Aug; 30(8):1545-57. PMID: 9737941.
      Citations: 20     Fields:    Translation:AnimalsCells
    244. Engels H, Viersbach R, Henke B, Schwanitz G, Passarge E, Wieczorek D. Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs. J Med Genet. 1998 Jul; 35(7):545-53. PMID: 9678698; PMCID: PMC1051364.
      Citations: 2     Fields:    Translation:HumansCells
    245. Rethinasamy P, Muthuchamy M, Hewett T, Boivin G, Wolska BM, Evans C, Solaro RJ, Wieczorek DF. Molecular and physiological effects of alpha-tropomyosin ablation in the mouse. Circ Res. 1998 Jan 9-23; 82(1):116-23. PMID: 9440710.
      Citations: 30     Fields:    Translation:AnimalsCells
    246. Wieczorek D, Gillessen-Kaesbach G, Albrecht B, Passarge E, Doerfler W. Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome. Am J Med Genet. 1997 Dec 12; 73(2):210-6. PMID: 9409875.
      Citations:    Fields:    Translation:Humans
    247. Majewski F, Gillessen-Kaesbach G, Wieczorek D. Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome. Clin Genet. 1997 Jul; 52(1):37-46. PMID: 9272711.
      Citations: 12     Fields:    Translation:Humans
    248. Muthuchamy M, Rethinasamy P, Wieczorek DF. Tropomyosin structure and function new insights. Trends Cardiovasc Med. 1997 May; 7(4):124-8. PMID: 21235875.
      Citations: 4     Fields:    
    249. Bolt J, Schwechheimer K, Gillessen-Kaesbach G, Wieczorek D. A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype. Am J Med Genet. 1997 Apr 14; 69(4):413-7. PMID: 9098493.
      Citations: 11     Fields:    Translation:HumansCells
    250. Gillessen-Kaesbach G, Plewa S, Passarge E, Wieczorek D. Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome. Clin Genet. 1996 Feb; 49(2):98-102. PMID: 8740922.
      Citations:    Fields:    Translation:Humans
    251. Muthuchamy M, Grupp IL, Grupp G, O'Toole BA, Kier AB, Boivin GP, Neumann J, Wieczorek DF. Molecular and physiological effects of overexpressing striated muscle beta-tropomyosin in the adult murine heart. J Biol Chem. 1995 Dec 22; 270(51):30593-603. PMID: 8530495.
      Citations: 47     Fields:    Translation:AnimalsCells
    252. Gillessen-Kaesbach G, Passarge E, Wieczorek D. A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome? Genet Couns. 1995; 6(4):297-302. PMID: 8775415.
      Citations: 1     Fields:    Translation:Humans
    253. Muthuchamy M, Pajak L, Howles P, Doetschman T, Wieczorek DF. Developmental analysis of tropomyosin gene expression in embryonic stem cells and mouse embryos. Mol Cell Biol. 1993 Jun; 13(6):3311-23. PMID: 7684495; PMCID: PMC359786.
      Citations: 34     Fields:    Translation:AnimalsCells
    254. Muthuchamy M, Pajak L, Wieczorek DF. Induction of endogenous myosin light chain 1 and cardiac alpha-actin expression in L6E9 cells by MyoD1. J Biol Chem. 1992 Sep 15; 267(26):18728-34. PMID: 1382061.
      Citations: 1     Fields:    Translation:AnimalsCells
    255. Diebold RJ, Koch WJ, Ellinor PT, Wang JJ, Muthuchamy M, Wieczorek DF, Schwartz A. Mutually exclusive exon splicing of the cardiac calcium channel alpha 1 subunit gene generates developmentally regulated isoforms in the rat heart. Proc Natl Acad Sci U S A. 1992 Feb 15; 89(4):1497-501. PMID: 1311102; PMCID: PMC48478.
      Citations: 28     Fields:    Translation:AnimalsCells
    256. Pajak L, Mariappan M, Wieczorek DF. Reprogramming of myosin light chain 1/3 expression in muscle heterokaryons. Dev Biol. 1991 May; 145(1):28-39. PMID: 1708345.
      Citations: 4     Fields:    Translation:AnimalsCells
    257. Wieczorek DF, Hughes SR. Developmentally regulated cDNA expressed exclusively in neural tissue. Brain Res Mol Brain Res. 1991 Apr; 10(1):33-41. PMID: 1647480.
      Citations: 6     Fields:    Translation:AnimalsCells
    258. Prokosch HU, Kamm S, Wieczorek D, Dudeck J. Knowledge representation in pharmacology. A possible application area for the Arden Syntax? Proc Annu Symp Comput Appl Med Care. 1991; 243-7. PMID: 1807597; PMCID: PMC2247532.
      Citations:    Fields:    
    259. Wieczorek DF. Regulation of alternatively spliced alpha-tropomyosin gene expression by nerve extract. J Biol Chem. 1988 Jul 25; 263(21):10456-63. PMID: 3392019.
      Citations: 11     Fields:    Translation:AnimalsCells
    260. Wieczorek DF, Smith CW, Nadal-Ginard B. The rat alpha-tropomyosin gene generates a minimum of six different mRNAs coding for striated, smooth, and nonmuscle isoforms by alternative splicing. Mol Cell Biol. 1988 Feb; 8(2):679-94. PMID: 3352602; PMCID: PMC363194.
      Citations: 48     Fields:    Translation:HumansAnimalsCells
    261. Wieczorek DF. Early effects in vitro of the muscular dysgenesis mutation on nervous tissue in the mouse. Muscle Nerve. 1984 Mar-Apr; 7(3):179-93. PMID: 6708964.
      Citations: 1     Fields:    Translation:AnimalsCells

    Related

    Topics (902)

    Explore

    Co-Authors (12)

    Explore

    Similar People (60)

    Explore

    Same Department

    Explore
    © 2022 Next Generation Sequencing Competence Network (NGS-CN) | Imprint | Privacy