Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

e.g. CCGA
(min 2 characters)

Holger Thiele

Dr.
University of Köln
University of Köln
Weyertal 115b, 50931 Köln, Germany
Köln 50931
+49 221 47896814
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    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.
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    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. Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Thiele H, Toosi MB, Akhondian J, Ghayoor Karimiani E, Huppke B, Houlden H, Maroofian R, Huppke P, Diegmann S, Dreha-Kulaczewski S, Altm?ller J, N?rnberg P, Hummel-Abmeier H, G?rtner J. Mutations in TAF8 cause a neurodegenerative disorder. Brain. 2022 09 14; 145(9):3022-3034. PMID: 35759269.
      Citations:    Fields:    Translation:Humans
    2. Weber-Lassalle N, Ernst C, Feng BJ, Adank MA, Allen J, Arnold N, Ausems MGEM, Bolla MK, Bull S, Carvalho S, Cornelissen S, Dufault MR, Dunning AM, Engel C, Geurts-Giele WRR, Green J, Helmy M, Hentschel J, Hogervorst FBL, Hollestelle A, Hooning MJ, Ikram MA, Keeman R, Kuang D, Luccarini C, Maier W, Martens JWM, Pharoah PDP, Ramirez A, Riedel-Heller S, Schmidt G, Shah M, Scherer M, Sutter C, Thiele H, van Asperen CJ, van der Kolk L, van der Luijt RB, Volk AE, Wagner M, Waisfisz Q, Wang Q, Wang-Gohrke S, Weber BHF, Devilee P, Tavtigian S, Bader GD, Goldgar DE, Andrulis IL, Schmutzler RK, Easton DF, Schmidt MK, Hahnen E, Dumont M, Joly-Beauparlant C, Droit A, Dubois S, Collin-Deschesnes AC, Soucy P, Vall?e M, Fournier F, Lema?on A, Altm?ller J, Berutti R, Gehrig A, Gieger C, Hackmann K, Horv?th J, Kaulfu? S, Niederacher D, N?rnberg P, Ott CE, Peters A, Ramser J, St?bler A, Strom TM, Meindl A, Simard J. Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers (Basel). 2022 Jul 11; 14(14). PMID: 35884425; PMCID: PMC9317824.
      Citations: 2     
    3. Rolfes M, Borde J, Kayali M, Ernst C, Gehrig A, Sutter C, Ramser J, Niederacher D, Arnold N, Meindl A, Auber B, Rump A, Wang-Gohrke S, Hentschel J, Thiele H, Rhiem K, Engel C, Wappenschmidt B, Schmutzler RK, Hahnen E, Hauke J, M?llenhoff K, Horv?th J, Ritter J, Altm?ller J, N?rnberg P. Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancers (Basel). 2022 Jul 05; 14(13). PMID: 35805063; PMCID: PMC9265404.
      Citations: 7     
    4. Asif M, Kaygusuz E, Shinawi M, Wagle P, Budde BS, Hochscherf J, Abdullah U, Lindenblatt D, Noegel AA, Thiele H, Motameny S, Fleischer N, Segal I, Pais L, Samra NN, Savatt JM, Rudy NL, De Luca C, Italian Undiagnosed Diseases Network, White SM, Hurst ACE, Niefind K, Brancati F, Hussain MS, Nickelsen A, Hsieh TC, H?ning S, Nienberg C, Altm?ller J, Tinschert S, Krawitz P, Jose J, N?rnberg P. De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. HGG Adv. 2022 Jul 14; 3(3):100111. PMID: 35571680; PMCID: PMC9092267.
      Citations: 5     
    5. Tschernoster N, Erger F, McNicholas B, Fistrek M, Toliat MR, Becker C, Thiele H, Walsh PR, Habbig S, Schumacher AL, Folz-Donahue K, Kukat C, Kavanagh D, Beck BB, N?rnberg P, Altm?ller J. Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing. J Mol Diagn. 2022 06; 24(6):619-631. PMID: 35398599.
      Citations: 3     Fields:    Translation:Humans
    6. Asif M, Mocanu ID, Abdullah U, Makhdoom EUH, Thiele H, Baig SM, Hussain MS, H?hne W, Altm?ller J, N?rnberg P, Graul-Neumann L. A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family. Am J Med Genet A. 2022 04; 188(4):1251-1258. PMID: 34913263.
      Citations:    Fields:    Translation:HumansAnimals
    7. Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Weixler L, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG, Altm?ller J, N?rnberg P. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2021 Dec 02; 108(12):2385. PMID: 34861176; PMCID: PMC8715173.
      Citations:    Fields:    
    8. Schreiber G, Thiele H, Funke R, Wilken B, Schmidt J, Altm?ller J, N?rnberg P, Li Y, Kaulfu? S, Yigit G, Wollnik B. Familial cleft tongue caused by a unique translation initiation codon variant in TP63. Eur J Hum Genet. 2022 02; 30(2):211-218. PMID: 34629465; PMCID: PMC8821562.
      Citations: 3     Fields:    Translation:Humans
    9. Waseem SS, Moawia A, Budde B, Tariq M, Khan A, Ali Z, Khan S, Iqbal M, Malik NA, Haque SU, Thiele H, Hussain MS, Cirak S, Baig SM, Altm?ller J, N?rnberg P. A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Genes (Basel). 2021 09 24; 12(10). PMID: 34680889; PMCID: PMC8535656.
      Citations: 3     Fields:    Translation:HumansCells
    10. 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
    11. Tariq M, Khan S, Ali A, Thiele H, Korejo AA, Mughal AR, Jamal SZ, Baig SM, Ramzan S, Tennstedt S, Noor Ul Ayan H, Munz M, N?rnberg P, Erdmann J, Ahmad I. A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family. Genes (Basel). 2021 08 21; 12(8). PMID: 34440456; PMCID: PMC8395014.
      Citations: 4     Fields:    Translation:HumansCells
    12. Khuller K, Thiele H, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Depienne C, Kaiser FJ, Kuechler A, Yigit G, Mart?nez Grijalva C, Altm?ller J, N?rnberg P, K?ninger A, Wollnik B. MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease. Eur J Med Genet. 2021 Oct; 64(10):104310. PMID: 34400370.
      Citations: 1     Fields:    Translation:Humans
    13. Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Eichinger L, Baig SM, Hussain MS, Tinschert S, H?ning S, N?rnberg P. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 2021 10; 100(4):486-488. PMID: 34270086.
      Citations: 1     Fields:    Translation:HumansCells
    14. Eckl KM, Gruber R, Brennan L, Marriott A, Plank R, Moosbrugger-Martinz V, Blunder S, Schossig A, Thiele H, Zschocke J, Hennies HC, Schmuth M, Altm?ller J, N?rnberg P. Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V. Front Genet. 2021; 12:689940. PMID: 34322157; PMCID: PMC8312243.
      Citations: 2     
    15. Koko M, Yahia A, Elsayed LE, Hamed AA, Mohammed IN, Elseed MA, Hamad MHA, Babai AM, Siddig RA, Abd Allah ASI, Mohamed M, El-Amin M, Toliat MR, Thiele H, Salih MA, Ahmed AE, Lerche H, Esteves T, Altm?ller J, N?rnberg P, Stevanin G. An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. Ann Hum Genet. 2021 09; 85(5):186-195. PMID: 34111303.
      Citations: 4     Fields:    Translation:HumansCells
    16. Makhdoom EUH, Waseem SS, Iqbal M, Abdullah U, Hussain G, Asif M, Budde B, Saadi SM, Yousaf H, Ali Z, Fatima A, Khan A, Jameel M, Khan S, Tariq M, Anjum I, Thiele H, Baig SM, Hussain MS, H?hne W, Tinschert S, Kaygusuz E, Altm?ller J, H?ning S, N?rnberg P. Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ. Genes (Basel). 2021 05 13; 12(5). PMID: 34068194; PMCID: PMC8153008.
      Citations: 5     Fields:    Translation:Humans
    17. Li Y, Thiele H, Wollnik B, Elalaoui SC, Fejjal N, Altm?ller J, Guaoua S, N?rnberg P, Sefiani A, Ratbi I. Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report. Pan Afr Med J. 2021; 39:21. PMID: 34394812; PMCID: PMC8348243.
      Citations: 1     Fields:    Translation:Humans
    18. Gizak A, Wisniewski J, Duda P, Thiele H, Rakus D, Diegmann S, Dreha-Kulaczewski S, Ohlenbusch A, Huppke B, Henneke M, H?hne W, Altm?ller J, N?rnberg P, G?rtner J, Huppke P. A novel remitting leukodystrophy associated with a variant in FBP2. Brain Commun. 2021; 3(2):fcab036. PMID: 33977262; PMCID: PMC8097510.
      Citations: 1     
    19. Akpulat U, Talim B, Baydan F, Thiele H, Cirak S, Daimag?ler HS, ?zdemir ?, Yis U, G?ng?r S, Diniz G, Altm?ller J, N?rnberg P. Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey. Am J Med Genet A. 2021 06; 185(6):1678-1690. PMID: 33694278.
      Citations: 1     Fields:    Translation:Humans
    20. Keller N, Altmueller J, Fuhrmann N, Wunderlich G, Schrank B, Unver O, Yilmaz S, Boostani R, Karimiani EG, Motameny S, Thiele H, Maroofian R, Wirth B, Karakaya M, Paketci C, N?rnberg P, Yis U. Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum Mutat. 2021 04; 42(4):460-472. PMID: 33600046.
      Citations: 5     Fields:    Translation:HumansCells
    21. Hauke J, Harter P, Ernst C, Schmidt S, Reuss A, Borde J, Dietrich D, El-Balat A, Kayali M, Gevensleben H, Hilpert F, Schoemig-Markiefka B, Thiele H, Kimmig R, Richters L, Schmutzler RK, Hahnen E, Burges A, De Gregorio N, Altm?ller J, Heimbach A, Meier W, N?rnberg P, Kast K, Sehouli J. Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883). J Med Genet. 2022 03; 59(3):248-252. PMID: 33273034; PMCID: PMC8867275.
      Citations: 1     Fields:    Translation:HumansCells
    22. Bamborschke D, Kreutzer M, Motameny S, Thiele H, Kribs A, Cirak S, ?zdemir ?, D?tsch J, Altm?ller J, N?rnberg P. Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17?hours. Am J Med Genet A. 2021 01; 185(1):90-96. PMID: 33048476.
      Citations: 5     Fields:    Translation:Humans
    23. Pergande M, Motameny S, Kreutzer M, Wang H, Becker K, Karakaya M, Elcioglu N, Ostojic S, Kawalia A, Koy A, Reimann J, Schoner K, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Topaloglu H, Thiele H, Heller R, Cirak S, ?zdemir ?, Daimag?ler HS, Ehrhardt H, Chao CM, Duman ?, Hahn A, Sch?nzer A, Haliloglu G, Altm?ller J, N?rnberg P. Correction: The genomic and clinical landscape of fetal akinesia. Genet Med. 2020 Aug; 22(8):1426-1428. PMID: 32451403.
      Citations:    Fields:    
    24. Chandler JC, Tahoun M, Goncalves T, Kleta R, Stanescu H, Bockenhauer D, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szocs A, Maka E, Toldi G, Kardos M, Fintha A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Saied MH, Marzouk S, Kelen K, Reusz G, Tulassay T, Motameny S, Thiele H, Long DA, Tomita K, Waters AM, Balogh E, Varga M, Menyh?rd DK, Schay G, Hamar R, L?gr?di R, Szekeres ?, Gribouval O, Kerti A, Perczel K, Sava F, Arrondel C, Hossain A, J?vorszky E, Rudas G, G?tze J, Dragon F, Mollet G, Dorval G, N?rnberg P, Perczel A, Szab? AJ, Antignac C, Tory K. Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc Natl Acad Sci U S A. 2020 06 30; 117(26):15137-15147. PMID: 32554502; PMCID: PMC7334496.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    25. Berger H, Till K, Thiele H, Borchers A, Ufartes R, Salinas G, Sturm M, Altm?ller J, N?rnberg P, Funke R, Apeshiotis N, Langen H, Wollnik B, Pauli S. De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. Hum Genet. 2020 Nov; 139(11):1363-1379. PMID: 32424618; PMCID: PMC7519918.
      Citations: 4     Fields:    Translation:HumansAnimals
    26. Hashmi JA, Fadhli F, Almatrafi A, Afzal S, Ramzan K, Thiele H, Basit S, N?rnberg P. Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family. Brain Dev. 2020 Sep; 42(8):587-593. PMID: 32402540.
      Citations: 4     Fields:    Translation:Humans
    27. Pohl-Rescigno E, Hauke J, Loibl S, Fasching PA, Kayali M, Ernst C, Weber-Lassalle N, Thiele H, Untch M, Rhiem K, Furlanetto J, Lederer B, Jackisch C, Nekljudova V, Schmutzler RK, Schneeweiss A, Hahnen E, M?bus V, Denkert C, Hanusch C, Tesch H, M?ller V, Altm?ller J, L?bbe K, N?rnberg P. Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer: A Secondary Analysis of the GeparOcto Randomized Clinical Trial. JAMA Oncol. 2020 05 01; 6(5):744-748. PMID: 32163106; PMCID: PMC7068666.
      Citations: 28     Fields:    Translation:Humans
    28. Budde BS, Aly MA, Mohamed MR, Motameny S, Kawalia A, Thiele H, Konrad K, Becker C, Toliat MR, Sayed EAF, Mohamed ES, Bre? A, Altm?ller J, N?rnberg G, Pfister M, N?rnberg P. Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clin Genet. 2020 07; 98(1):32-42. PMID: 32279305.
      Citations: 14     Fields:    Translation:Humans
    29. Lessel I, Chen MJ, Arndt F, Fuchs S, Meien S, Thiele H, Jones JR, Shaw BR, Crossman DK, Korf BR, Kubisch C, Lessel D, L?ttgen S, N?rnberg P. Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. Hum Genet. 2020 Apr; 139(4):483-498. PMID: 32055997; PMCID: PMC7078146.
      Citations: 8     Fields:    Translation:HumansCells
    30. Forstner AJ, Fischer SB, Schenk LM, Strohmaier J, Maaser-Hecker A, Sivalingam S, Hecker J, Streit F, Degenhardt F, Witt SH, Schumacher J, Thiele H, Auburger G, Gil Flores S, Rivas F, Mayoral F, Reif A, Herms S, Hoffmann P, Pirooznia M, Goes FS, Rietschel M, Cichon S, Reinbold CS, N?rnberg P, Guzman-Parra J, Orozco Diaz G, Albus M, Borrmann-Hassenbach M, Gonz?lez MJ, Cabaleiro Fabeiro FJ, Del R?o Noriega F, Perez Perez F, Haro Gonz?lez J, Bauer M, Pfennig A, N?then MM. Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families. Transl Psychiatry. 2020 02 04; 10(1):57. PMID: 32066727; PMCID: PMC7026119.
      Citations: 14     Fields:    Translation:Humans
    31. Dafsari HS, Kawalia A, Sprute R, Karakaya M, Malenica A, Herkenrath P, Motameny S, Thiele H, Cirak S, N?rnberg P. Novel mutations in SLC6A5 with benign course in hyperekplexia. Cold Spring Harb Mol Case Stud. 2019 12; 5(6). PMID: 31604777; PMCID: PMC6913151.
      Citations: 7     Fields:    Translation:Humans
    32. Pergande M, Motameny S, Kreutzer M, Wang H, Becker K, Karakaya M, Elcioglu N, Ostojic S, Kawalia A, Koy A, Reimann J, Schoner K, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Topaloglu H, Thiele H, Heller R, Cirak S, ?zdemir ?, Daimag?ler HS, Ehrhardt H, Chao CM, Duman ?, Hahn A, Sch?nzer A, Haliloglu G, Altm?ller J, N?rnberg P. The genomic and clinical landscape of fetal akinesia. Genet Med. 2020 03; 22(3):511-523. PMID: 31680123.
      Citations: 16     Fields:    Translation:Humans
    33. Dafsari HS, Sprute R, Wunderlich G, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Kloss M, Pauls A, Thiele H, Assmann B, Koy A, Cirak S, Daimag?ler HS, Karakulak T, Horn A, N?rnberg P, Altm?ller J. Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia. J Hum Genet. 2019 Oct; 64(10):1051-1054. PMID: 31388109.
      Citations:    Fields:    
    34. Karsak M, Glebov K, Scheffold M, Bajaj T, Kawalia A, Karaca I, Rading S, Diez-Fairen M, Scherer M, Riedel-Heller S, Schneider A, Heneka MT, Fliessbach K, Sharaf A, Thiele H, Lennarz M, Jessen F, Maier W, Kubisch C, Ignatova Z, Pastor P, Walter J, Ramirez A, Kornhuber J, Peters O, Fr?lich L, H?ll M, Wiltfang J, N?rnberg P. A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2. Hum Mutat. 2020 01; 41(1):169-181. PMID: 31464095.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    35. Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Thiele H, Motameny S, Toliat MR, Powell K, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Yu-Wai-Man P, Votruba M, N?rnberg G, Altm?ller J, H?hne W, N?rnberg P. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann Neurol. 2019 09; 86(3):368-383. PMID: 31298765; PMCID: PMC8855788.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    36. Niestroj LM, May P, Artomov M, Kobow K, Coras R, Thiele H, Leu C, Palotie A, Daly MJ, Klein KM, Lal D, P?rez-Palma E, Altm?ller J, N?rnberg P, Beschorner R, Weber YG, Bl?mcke I. Assessment of genetic variant burden in epilepsy-associated brain lesions. Eur J Hum Genet. 2019 11; 27(11):1738-1744. PMID: 31358956; PMCID: PMC6871528.
      Citations: 6     Fields:    Translation:Humans
    37. Dafsari HS, Sprute R, Wunderlich G, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Kloss M, Pauls A, Thiele H, Assmann B, Koy A, Cirak S, Daimag?ler HS, Karakulak T, Horn A, N?rnberg P, Altm?ller J. Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J Hum Genet. 2019 Aug; 64(8):803-813. PMID: 31165786.
      Citations: 18     Fields:    Translation:HumansCells
    38. Gilley J, Angeletti C, Kurth I, Drenth JPH, Thiele H, Orsomando G, Coleman MP, Huppke P, Wegener E, Stadelmann C, Barrantes-Freer A, Br?ck W, N?rnberg P, G?rtner J. Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia. Exp Neurol. 2019 10; 320:112958. PMID: 31132363.
      Citations: 25     Fields:    Translation:Humans
    39. Weber-Lassalle N, Borde J, Weber-Lassalle K, Niederacher D, Arnold N, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Lepkes L, Pohl-Rescigno E, Thiele H, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Schmutzler RK, Hahnen E, Hauke J, Horv?th J, Kaulfu? S, Altm?ller J, N?rnberg P, Meindl A. Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Breast Cancer Res. 2019 04 29; 21(1):55. PMID: 31036035; PMCID: PMC6489184.
      Citations: 30     Fields:    Translation:Humans
    40. Hauke J, Hahnen E, Schneider S, Reuss A, Richters L, Kommoss S, Schmidt S, Prieske K, Gevensleben H, Borde J, El-Balat A, Thiele H, Hilpert F, Meier W, Dietrich D, Kimmig R, Schoemig-Markiefka B, Jackisch C, Park-Simon TW, Ernst C, Pfisterer J, Schnelzer A, du Bois A, Schmutzler RK, Harter P, Heimbach A, Marm? F, Burges A, De Gregorio N, N?rnberg P, Altm?ller J, Kast K, Braicu E, Baumann K, Hanker L. Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883). J Med Genet. 2019 09; 56(9):574-580. PMID: 30979843.
      Citations: 18     Fields:    Translation:HumansCells
    41. Wagener R, Seufert J, Raimondi F, Bens S, Kleinheinz K, Nagel I, Thiele H, Kohler CW, Au-Yeung R, Horn H, Leoncini L, Jaffe ES, Ott G, Rymkiewicz G, Schlesner M, Russell RB, Klapper W, Siebert R, Altm?ller J, H?bschmann D, N?rnberg P, Burkhardt B. The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma. Blood. 2019 02 28; 133(9):962-966. PMID: 30567752; PMCID: PMC6396176.
      Citations: 28     Fields:    Translation:HumansCells
    42. Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szollos A, Rusu C, Lopez-Valdez J, Thiele H, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB, Rojas AJ, N?rnberg P. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet. 2018 Dec; 137(11-12):921-939. PMID: 30450527; PMCID: PMC6652186.
      Citations: 9     Fields:    Translation:HumansCells
    43. Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG, Altm?ller J, N?rnberg P. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2018 11 01; 103(5):826. PMID: 30388405; PMCID: PMC6218605.
      Citations: 6     Fields:    
    44. Maaser A, Forstner AJ, Strohmaier J, Hecker J, Ludwig KU, Sivalingam S, Streit F, Degenhardt F, Witt SH, Koller AC, Raff R, Heilmann-Heimbach S, Fischer SB, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Herms S, Hoffmann P, Thiele H, Carmenate-Naranjo D, Proenza-Barzaga N, Auburger GWJ, Andlauer TFM, Cichon S, Marcheco-Teruel B, Mors O, Rietschel M, Reinbold CS, N?rnberg P, L?hlein Fier H, Orozco-D?az G, N?then MM. Exome sequencing in large, multiplex bipolar disorder families from Cuba. PLoS One. 2018; 13(10):e0205895. PMID: 30379966; PMCID: PMC6209204.
      Citations: 9     Fields:    Translation:Humans
    45. Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Gambon R, Kohlschmidt N, Holdenrieder S, Paus R, Geyer M, Kokordelis P, Betz RC, Altm?ller J, N?rnberg P, Ellwanger J, Baumer A, Metze D, L?tjohann D, Frank J, Bertolini M. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am J Hum Genet. 2018 11 01; 103(5):777-785. PMID: 30401459; PMCID: PMC6218848.
      Citations: 16     Fields:    Translation:HumansCells
    46. Wagener R, Kleinheinz K, Bausinger J, Aukema SM, Nagel I, Toprak UH, Seufert J, Thiele H, Schneider C, Kolarova J, Park J, Murga Penas EM, Drexler HG, Attarbaschi A, Hovland R, Kjeldsen E, Kneba M, Kontny U, de Leval L, Oschlies I, Oscier D, Schlegelberger B, Stilgenbauer S, Schlesner M, Klapper W, Jaffe ES, Siebert R, L?pez C, Altm?ller J, H?bschmann D, N?rnberg P, W?ssmann W, Burkhardt B, K?ppers R. IG-MYC+ neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas. Blood. 2018 11 22; 132(21):2280-2285. PMID: 30282799; PMCID: PMC6251006.
      Citations: 26     Fields:    Translation:HumansCells
    47. Fazeli W, Becker K, Herkenrath P, Landgraf P, Thiele H, Koy A, Liebau MC, Simon T, Cirak S, D?chting C, K?rber F, N?rnberg P, Altm?ller J, D?tsch J. Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. Neuropediatrics. 2018 12; 49(6):379-384. PMID: 30165711.
      Citations: 5     Fields:    Translation:Humans
    48. Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Sinha V, Motameny S, Thiele H, Kawalia A, Toliat MR, Kraaij R, van Rooij J, Ikram MA, EuroEPINOMICS CoGIE Consortium, Zara F, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Schubert J, Wolking S, Altm?ller J, Uitterlinden AG, Lehesjoki AE, Lerche H, N?rnberg P. Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS One. 2018; 13(8):e0202022. PMID: 30148849; PMCID: PMC6110470.
      Citations: 1     Fields:    Translation:Humans
    49. Bergmann C, Thiele H, Pauli S, Altm?ller J, Schr?der S, Ohlenbusch A, Dreha-Kulaczewski S, N?rnberg P, Li Y, Wollnik B, Brockmann K. Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J Med Genet. 2019 04; 56(4):261-264. PMID: 30120217.
      Citations: 9     Fields:    Translation:Humans
    50. Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Thiele H, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG, Altm?ller J, N?rnberg P, Yis U, Okur TD, Polat AI. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2018 09 06; 103(3):431-439. PMID: 30100084; PMCID: PMC6128219.
      Citations: 30     Fields:    
    51. Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Altmueller J, Naghiyeva L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Heller R, Wirth B, H?lker I, Schmitz-Steinkr?ger L, Polat AI, Okur D, Yis U, N?rnberg P. Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum Mutat. 2018 09; 39(9):1284-1298. PMID: 29858556.
      Citations: 27     Fields:    Translation:Humans
    52. May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Marini C, Thiele H, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Carmant L, Lortie A, Desbiens R, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Maljevic S, Zara F, Cossette P, Krause R, Lerche H, Epicure Consortium, EuroEPINOMICS CoGIE Consortium, EpiPGX Consortium, Guerrero-L?pez R, Baulac S, Altm?ller J, Cest?le S, M?ller RS, Kasteleijn-Nolst Trenit? D, Dubeau F, Cl?ment JF, Cieuta-Walti C, Uitterlinden AG, N?rnberg P. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol. 2018 08; 17(8):699-708. PMID: 30033060.
      Citations: 31     Fields:    Translation:Humans
    53. Broekaert IJ, Becker K, Gottschalk I, Thiele H, Cirak S, K?rber F, D?tsch J, Altm?ller J, N?rnberg P, H?nseler C. Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. J Med Genet. 2018 09; 55(9):637-640. PMID: 29661969.
      Citations: 9     Fields:    Translation:Humans
    54. Hauke J, Horvath J, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Volk AE, Thiele H, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E, Gro? E, Gehrig A, Altm?ller J, H?bbel V, N?rnberg P, Haaf T. Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Med. 2018 04; 7(4):1349-1358. PMID: 29522266; PMCID: PMC5911592.
      Citations: 73     Fields:    Translation:Humans
    55. Thiele H, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Engel C, Arnold N, Dworniczak B, Weber-Lassalle N, Hauke J, Ramser J, Richters L, Gro? E, Bl?mcke B, Gehrig A, Kahlert AK, M?ller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Ernst C, Altm?ller J, Neidhardt G, N?rnberg P, Klaschik K, Wappenschmidt B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E. BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res. 2018 01 24; 20(1):7. PMID: 29368626; PMCID: PMC5784717.
      Citations: 37     Fields:    Translation:Humans
    56. Bobbili DR, Lal D, May P, Reinthaler EM, Jabbari K, Thiele H, Nothnagel M, Jurkowski W, Feucht M, Zimprich F, Krause R, Neubauer BA, Feucht M, Neophytou B, Gruber-Sedlmayr U, Haberlandt E, Ronen GM, Sander T, Krause R, May P, Balling R, Neubauer BA, EUROEPINOMICS COGIE Consortium, N?rnberg P, Lerche H, Steinb?ck H, Geldner J, Altm?ller J. Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. Eur J Hum Genet. 2018 02; 26(2):258-264. PMID: 29358611; PMCID: PMC5839048.
      Citations: 10     Fields:    Translation:Humans
    57. Horpaopan S, Kirfel J, Peters S, Kloth M, Drichel D, Odenthal M, Kristiansen G, Strassburg C, Nattermann J, Hoffmann P, Thiele H, Spier I, Aretz S, H?neburg R, Altm?ller J, N?rnberg P, B?ttner R, Kahl P. Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS). Hered Cancer Clin Pract. 2017; 15:22. PMID: 29213343; PMCID: PMC5707812.
      Citations: 5     
    58. Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand MS, Burgess R, Mount T, Zara F, Striano P, Thiele H, Wong M, Weisenberg JL, Thio LL, Scheffer IE, Berkovic SF, Petrou S, Reid CA, Schubert J, N?rnberg P, Lerche H. Gain-of-function HCN2 variants in genetic epilepsy. Hum Mutat. 2018 02; 39(2):202-209. PMID: 29064616.
      Citations: 9     Fields:    Translation:Humans
    59. Koenig R, Magoulas P, Scaglia F, Kilic E, Fauler B, Kalscheuer VM, Hennig F, Netzer C, Thiele H, Hecht J, Mielke T, Bacino CA, Bonnen PE, Ehmke N, Graul-Neumann L, Smorag L, Segebrecht L, Hennig AF, Adolphs N, Saha N, Altm?ller J, N?rnberg P, Yigit G, J?ger M, Kr?ger U, Krawitz PM, Horn D, Schuelke M, Mundlos S, Wollnik B, Fischer-Zirnsak B, Kornak U. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet. 2017 Nov 02; 101(5):833-843. PMID: 29100093; PMCID: PMC5673623.
      Citations: 34     Fields:    Translation:HumansCells
    60. Lev D, Kalscheuer VM, Charzewska A, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Krause R, May P, EuroEPINOMICS Consortium, Balling R, Haas SA, van Gassen KLI, Zara F, Leshinsky-Silver E, Niturad CE, Schubert J, Specchio N, Lassota M, Trivisano M, Thiele H, Altm?ller J, Becker F, Biskup S, N?rnberg P, Lerche H, Maljevic S. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain. 2017 Nov 01; 140(11):2879-2894. PMID: 29053855.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    61. Harter P, Hauke J, Heitz F, Reuss A, Prieske K, Richters L, Neidhardt G, de Gregorio N, El-Balat A, Hilpert F, Meier W, Kimmig R, Baumann K, Jackisch C, Park-Simon TW, Pfisterer J, Gevensleben H, Schnelzer A, Dietrich D, Thiele H, Lamla J, Elser G, du Bois A, Hahnen E, Schmutzler R, Kommoss S, Marm? F, Heimbach A, Burges A, Kast K, Sehouli J, Hanker L, Kr?ber S, Neunh?ffer T, Krockenberger M, Brucker SY, N?rnberg P, Altm?ller J. Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PLoS One. 2017; 12(10):e0186043. PMID: 29053726; PMCID: PMC5650145.
      Citations: 53     Fields:    Translation:Humans
    62. Church JA, Schnur R, Millan F, Begtrup A, Almusafri F, Thiele H, Huppke P, Weissbach S, Krusen M, Dreha-Kulaczewski S, K?hn-Velten WN, Wolf A, Huppke B, Altm?ller J, N?rnberg P, M?ller M, G?rtner J. Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat Commun. 2017 10 10; 8(1):818. PMID: 29018201; PMCID: PMC5635015.
      Citations: 33     Fields:    Translation:HumansCells
    63. Hahnen E, Lederer B, Hauke J, Loibl S, Fasching PA, Jackisch C, Neidhardt G, Rhiem K, Thiele H, Nekljudova V, Untch M, von Minckwitz G, Schmutzler RK, Kr?ber S, Schneeweiss A, Denkert C, Blohmer JU, Paepke S, Gerber B, K?mmel S, Schem C, Huober J, Costa S, Altm?ller J, Hanusch C, M?ller V, N?rnberg P, Karn T. Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial. JAMA Oncol. 2017 Oct 01; 3(10):1378-1385. PMID: 28715532; PMCID: PMC5710508.
      Citations: 145     Fields:    Translation:Humans
    64. Neidhardt G, Hauke J, Heilmann-Heimbach S, Lieb W, Thiele H, Klaschik K, Ernst C, Ditsch N, Jessen F, Ramirez A, Wappenschmidt B, Engel C, Rhiem K, Schmutzler RK, Hahnen E, Ramser J, Gro? E, Gehrig A, M?ller CR, Kahlert AK, Hackmann K, Honisch E, Niederacher D, Franke A, Altm?ller J, N?rnberg P, Meindl A. Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. JAMA Oncol. 2017 Sep 01; 3(9):1245-1248. PMID: 28033443; PMCID: PMC5824291.
      Citations: 53     Fields:    Translation:Humans
    65. Lessel D, Wu D, Trujillo C, Ramezani T, Lessel I, Alwasiyah MK, Saha B, Hisama FM, Rading K, Goebel I, Thiele H, Hammerschmidt M, Zhu Y, Tong DR, Katz C, Martin GM, Oshima J, Prives C, Kubisch C, Sch?tz P, Speit G, H?gel J, N?rnberg G, N?rnberg P. Dysfunction of the MDM2/p53 axis is linked to premature aging. J Clin Invest. 2017 Oct 02; 127(10):3598-3608. PMID: 28846075; PMCID: PMC5617664.
      Citations: 41     Fields:    Translation:HumansAnimalsCells
    66. Thiele H, Rosenbaum T, Weissbach S, Reinert MC, Altm?ller J, Kr?tzner R, N?rnberg P, G?rtner J. A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am J Med Genet A. 2017 Oct; 173(10):2803-2807. PMID: 28817236.
      Citations: 4     Fields:    Translation:Humans
    67. Kurzwelly D, Wagner H, Tao F, Peitz M, Rehbach K, Pyle A, Thiele H, Timmann D, Karaca I, Lennarz M, Baets J, Feely S, Kennerson M, Gonzalez MA, Roeske S, Jung J, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Schmitt I, Wolf M, Greschus S, Maier W, Zuchner S, Klockgether T, Ramirez A, Minnerop M, Soehn AS, Reichbauer J, Rattay TW, Giorgetti A, Altm?ller J, Hengel H, Synofzik M, Atasu B, Stendel C, Lindig T, Stirnberg R, Sturm M, Bauer P, Lohmann E, Carloni P, Br?stle O, Klopstock T, Kohlhase J, Amunts K, Sch?ls L, N?rnberg P, Sch?le R. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 06 01; 140(6):1561-1578. PMID: 28459997; PMCID: PMC6402316.
      Citations: 52     Fields:    Translation:HumansCells
    68. Leu C, Thiele H, Sander T, Usluer S, Kayserili MA, Eken AG, Yis U, Altm?ller J, N?rnberg P, ?aglayan SH. Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). Eur J Paediatr Neurol. 2017 Sep; 21(5):773-782. PMID: 28566192.
      Citations: 2     Fields:    Translation:Humans
    69. Haagerup A, Gregersen PA, Petersen KK, Thiele H, Cho TJ, Kim OH, Nishimura G, Vogel I, Moosa S, Altm?ller J, N?rnberg P, Wollnik B. Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am J Med Genet A. 2017 Apr; 173(4):1102-1108. PMID: 28328135.
      Citations: 11     Fields:    Translation:Humans
    70. Ralser DJ, Tafazzoli A, Wititsuwannakul J, Delker S, Danda S, Thiele H, Wolf S, Pulimood SA, Lacombe D, Hillen U, Frank J, Odermatt B, Betz RC, Basmanav FB, Busch M, Altm?ller J, N?rnberg P, Wenzel J. Mutations in ?-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J Clin Invest. 2017 Apr 03; 127(4):1485-1490. PMID: 28287404; PMCID: PMC5373890.
      Citations: 26     Fields:    Translation:Animals
    71. Becker A, Hauke J, Bogdanova Markov N, Heilmann-Heimbach S, Hellebrand H, Thiele H, Meindl A, Rhiem K, Wappenschmidt B, Schmutzler RK, Hahnen E, Neidhardt G, Horv?th J, Altm?ller J, N?rnberg P, Bl?mcke B. The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer. Eur J Cancer Prev. 2017 03; 26(2):165-169. PMID: 27622768.
      Citations: 5     Fields:    Translation:Humans
    72. Kudin AP, Baron G, Hampel KG, Elger CE, Grote A, Thiele H, Schulz H, Ruppert AK, Sander T, Cheng Q, Kunz WS, Zsurka G, Weber Y, Lerche H, N?rnberg P, Arn?r ES, Schomburg L, Seeher S, Fradejas-Villar N, Schweizer U. Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. Free Radic Biol Med. 2017 05; 106:270-277. PMID: 28232204.
      Citations: 15     Fields:    Translation:Humans
    73. Gordon CT, Xue S, Filali H, Chen K, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Thiele H, Gurzau AD, Okamoto N, Varghese V, Irving R, Williams D, Ahmed SF, Bonnard C, Kong MK, Reigstad H, Ragge N, Teo AS, Cunningham ML, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Javed A, Blewitt ME, Amiel J, Reversade B, Yigit G, Rosin N, Altm?ller J, Dion C, N?rnberg P, Meschede D, M?hlbauer W, Sigaudy S, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Bole-Feysot C, Nitschk? P, L?vy N, Tun?bilek G, Sefiani A, Kayserili H, Magdinier F, Wollnik B. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet. 2017 Feb; 49(2):249-255. PMID: 28067911.
      Citations: 48     Fields:    Translation:HumansAnimalsCells
    74. Budde B, Thiele H, Tariq M, Malik NA, Baig SM, Sukumaran SK, Stumpf M, Salamon S, Ahmad I, Bhattacharya K, Fischer S, M?ller R, Altm?ller J, N?rnberg P, Hussain MS, Noegel AA. CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. Mol Genet Genomics. 2017 Apr; 292(2):365-383. PMID: 28004182; PMCID: PMC5357305.
      Citations: 8     Fields:    Translation:HumansCells
    75. Cau L, Tafazzoli A, Wolf S, Romano MT, Huchenq A, Kandil R, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Swan D, Houniet D, Weibel L, Wagner N, Bygum A, Serre G, Sprecher E, Schoch S, Farrant P, Simon M, Betz RC, ? Basmanav FB, M?chin MC, Valentin F, Wiegmann H, Garcia Bartels N, Altm?ller J, N?rnberg P, B?chner A, Grimalt R, Blume-Peytavi U, Oji V, Hamm H. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am J Hum Genet. 2016 Dec 01; 99(6):1292-1304. PMID: 27866708; PMCID: PMC5142115.
      Citations: 45     Fields:    Translation:HumansAnimalsCells
    76. Reiff C, Owczarek-Lipska M, Hinz H, Thiele H, Da Costa R, Neidhardt J, Spital G, R?ger C, J?schke C, Altm?ller J, N?rnberg P. The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family. Sci Rep. 2016 11 04; 6:36208. PMID: 27812022; PMCID: PMC5095885.
      Citations: 6     Fields:    Translation:HumansCells
    77. Motameny S, Becker C, Thiele H, Chatterjee S, Wollnik B, Altm?ller J, N?rnberg P. A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product. Biol Chem. 2016 08 01; 397(8):791-801. PMID: 27021259.
      Citations: 8     Fields:    Translation:HumansCells
    78. Tiwari A, Lemke J, Altmueller J, Thiele H, Glaus E, Neidhardt J, Berger W, Fleischhauer J, N?rnberg P. Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS One. 2016; 11(7):e0158692. PMID: 27391102; PMCID: PMC4938416.
      Citations: 12     Fields:    Translation:HumansCells
    79. Fano V, Obregon MG, Thiele H, Nishimura G, Moosa S, Altm?ller J, N?rnberg P, Wollnik B. A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival. Am J Med Genet A. 2016 09; 170(9):2436-9. PMID: 27354339.
      Citations: 4     Fields:    Translation:Humans
    80. Herling CD, Rocha CK, Thiele H, Bahlo J, Kluth S, Crispatzu G, Herling M, Schiller J, Engelke A, Tausch E, Fischer K, Goede V, Reinhardt HC, Stilgenbauer S, Hallek M, Kreuzer KA, Klaum?nzer M, Altm?ller J, D?hner H, N?rnberg P. Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy. Blood. 2016 07 21; 128(3):395-404. PMID: 27226433.
      Citations: 59     Fields:    Translation:HumansCellsCTClinical Trials
    81. Lemke JR, Geider K, Helbig KL, Heyne HO, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Hjalgrim H, Lal D, Neubauer BA, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S, Sch?tz H, M?ller RS, N?rnberg P, Str?mme P, S? J, Mendon?a C, Piton A. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology. 2016 06 07; 86(23):2171-8. PMID: 27164704; PMCID: PMC4898312.
      Citations: 86     Fields:    Translation:HumansAnimalsCells
    82. Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, G?bel H, Mache C, Thiele H, Bartram MP, Dombret C, Altm?ller J, N?rnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, K?mhoff M. Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N Engl J Med. 2016 May 12; 374(19):1853-63. PMID: 27120771.
      Citations: 68     Fields:    Translation:Humans
    83. Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A, Genetic Commission of the Italian League against Epilepsy, EuroEPINOMICS CoGIE Consortium, Gormley P, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Sander T, Neubauer BA, Lehesjoki AE, Schwarz G, Riesch E, Steinb?ck H, Becker F, Weber YG, N?rnberg P, Lerche H. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One. 2016; 11(3):e0150426. PMID: 26990884; PMCID: PMC4798642.
      Citations: 8     Fields:    Translation:HumansCTClinical Trials
    84. Gardella E, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Mang Y, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Tommerup N, Hjalgrim H, Becker F, M?ller RS, Schubert J, Altm?ller J, N?rnberg P, Bakke M?ller L, Biskup S, Lerche H, Beniczky S, Weber YG. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016 Mar; 79(3):428-36. PMID: 26677014.
      Citations: 53     Fields:    Translation:Humans
    85. Obregon MG, Thiele H, Fano V, Moosa S, Altm?ller J, N?rnberg P, Wollnik B. Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. Am J Med Genet A. 2016 May; 170A(5):1295-301. PMID: 26792575.
      Citations: 9     Fields:    Translation:Humans
    86. Korenke GC, Eggert M, Thiele H, Sander T, Steinlein OK, N?rnberg P. Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia. 2016 Mar; 57(3):e60-3. PMID: 26786403.
      Citations: 20     Fields:    Translation:Humans
    87. Lal D, Neubauer BA, Toliat MR, Thiele H, Kamrath C, Sander T, Hahn A, Nothnagel M, Altm?ller J, N?rnberg P, Sch?nzer A. Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS One. 2016; 11(1):e0146040. PMID: 26789268; PMCID: PMC4720433.
      Citations: 17     Fields:    Translation:Humans
    88. Kakar N, Tayebi N, Leettola C, Sowada N, Harabula I, Wittler L, Thiele H, van Bokhoven H, Schwartz CE, Bowie JU, Ahmad J, Kubisch C, Borck G, Spielmann M, N?rnberg G, Lupi??ez DG, Fl?ttmann R, Horn D, Chan WL, Yilmaz R, Altm?ller J, N?rnberg P, Mundlos S. Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Res. 2016 Feb; 26(2):183-91. PMID: 26755636; PMCID: PMC4728371.
      Citations: 27     Fields:    Translation:HumansAnimalsCells
    89. Ammann S, Schulz A, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Thiele H, Bank J, Strauss A, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S, Kr?geloh-Mann I, Altm?ller J, N?rnberg P, von Bernuth H. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016 Feb 25; 127(8):997-1006. PMID: 26744459; PMCID: PMC7611501.
      Citations: 64     Fields:    Translation:Humans
    90. Zhang R, Thiele H, Bartmann P, Hilger AC, Berg C, Herberg U, Ludwig M, Reutter H, Klingm?ller D, N?rnberg P. Whole-Exome Sequencing in Nine Monozygotic Discordant Twins. Twin Res Hum Genet. 2016 Feb; 19(1):60-5. PMID: 26681452.
      Citations: 7     Fields:    Translation:Humans
    91. Hallmann K, Kudin AP, Kornblum C, Reimann J, Waltz S, Hattingen E, Thiele H, Kopatz J, Neumann H, Kunz WS, Zsurka G, St?ve B, N?rnberg P, R?b C, Voos W. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Brain. 2016 Feb; 139(Pt 2):338-45. PMID: 26685157.
      Citations: 27     Fields:    Translation:Humans
    92. Zaki MS, Heller R, Thoenes M, Stern-Schneider G, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ, N?rnberg G, N?rnberg P. PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum Mutat. 2016 Feb; 37(2):170-4. PMID: 26593283.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    93. 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
    94. Szczepanski S, Hussain MS, Sur I, Thiele H, Abdullah U, Waseem SS, Moawia A, Noegel AA, Baig SM, Altm?ller J, N?rnberg G, N?rnberg P. A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum Genet. 2016 Feb; 135(2):157-70. PMID: 26621532.
      Citations: 16     Fields:    Translation:HumansCells
    95. Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP, Yigit G, Altm?ller J, N?rnberg P. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet. 2016 Jan; 48(1):36-43. PMID: 26595769; PMCID: PMC4697364.
      Citations: 48     Fields:    Translation:HumansCells
    96. Stephen LA, Davis GM, Tebbe L, Thiele H, Thoenes M, Boltshauser E, McTeir L, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Davey MG, Bolz HJ, Tawamie H, N?rnberg P, N?rnberg G, Uebe S, Rompel O, Reis A, Ekici AB, Jamra RA. TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). Elife. 2015 Sep 19; 4. PMID: 26386247; PMCID: PMC4641851.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    97. Hardies K, de Kovel CG, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, van 't Slot R, Balling R, Timmerman V, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P, autosomal recessive working group of the EuroEPINOMICS RES Consortium, Weckhuysen S, Becker F, Schubert J, Weber Y, N?rnberg P, Lerche H. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain. 2015 Nov; 138(Pt 11):3238-50. PMID: 26384929.
      Citations: 57     Fields:    Translation:HumansCells
    98. Just W, Rosenbohm A, Marroquin N, Goebel I, Thiele H, Weishaupt JH, Kubisch C, Ludolph AC, Volk AE, H?bers A, M?ller K, H?gel J, Altm?ller J, N?rnberg P. De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. Neurobiol Aging. 2015 Nov; 36(11):3117.e1-3117.e6. PMID: 26362943.
      Citations: 31     Fields:    Translation:Humans
    99. Gollasch B, Basmanav FB, Nanda A, Mahmoudi H, Thiele H, Wehner M, Wolf S, Betz RC, Fritz G, Altm?ller J, N?rnberg P, Frank J. Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. Am J Med Genet A. 2015 Nov; 167A(11):2555-62. PMID: 26129644.
      Citations: 3     Fields:    Translation:HumansCells
    100. Lal D, Sander T, Thiele H, Krause R, Palotie A, Neubauer BA, Muhle H, Stephani U, Helbig I, Becker AJ, Schoch S, Hohl C, Epicure consortium, EuroEPINOMICS-CoGIE consortium, von Spiczak S, Lemke JR, Steinbr?cker S, Schubert J, Becker F, Weber Y, Lerche H, Lehesjoki AE, N?rnberg P, Hansen J, Dorn T, L?scher N. Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Res. 2015 Sep; 115:95-9. PMID: 26220384.
      Citations: 11     Fields:    Translation:Humans
    101. Kawalia A, Motameny S, Wonczak S, Thiele H, Nieroda L, Jabbari K, Borowski S, Sinha V, Gunia W, Lang U, Achter V, N?rnberg P. Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow. PLoS One. 2015; 10(5):e0126321. PMID: 25942438; PMCID: PMC4420499.
      Citations: 19     Fields:    Translation:Humans
    102. Budde BS, Mizumoto S, Kogawa R, Becker C, Thiele H, Toliat MR, Kaleschke G, Sugahara K, Kennerknecht I, Altm?ller J, R?schendorf F, H?mmerle JM, H?hne W, N?rnberg P. Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. Hum Genet. 2015 Jul; 134(7):691-704. PMID: 25893793.
      Citations: 16     Fields:    Translation:HumansCellsCTClinical Trials
    103. Rosin N, Elcioglu NH, Beleggia F, Thiele H, Steindl K, Joset P, Rauch A, Wollnik B, Isg?ven P, Altm?ller J, N?rnberg P, Yigit G. Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Hum Mol Genet. 2015 Jul 01; 24(13):3708-17. PMID: 25839420.
      Citations: 21     Fields:    Translation:Humans
    104. Reinthaler EM, Dejanovic B, Lal D, Merkler Y, Pittrich DA, Hotzy C, Feucht M, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Kawalia A, Toliat MR, EuroEPINOMICS Consortium, Nothnagel M, Thiele H, Sander T, Neubauer BA, Zimprich F, Semtner M, Reinhold A, Steinb?ck H, Geldner J, Altm?ller J, N?rnberg P, Lerche H, Meier JC, Schwarz G. Rare variants in ?-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. Ann Neurol. 2015 Jun; 77(6):972-86. PMID: 25726841.
      Citations: 30     Fields:    Translation:HumansCells
    105. Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Thiele H, Krause R, EuroEPINOMICS CoGIE Consortium, Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM, M?ller RS, Schubert J, Lehesjoki AE, N?rnberg P, Lerche H, Kasteleijn-Nolst Trenit? DG. CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain. 2015 May; 138(Pt 5):1198-207. PMID: 25783594; PMCID: PMC4407192.
      Citations: 40     Fields:    Translation:HumansAnimals
    106. Thoenes M, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Steel KP, Zimmermann U, N?rnberg G, N?rnberg P, Knipper M, Bolz HJ. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet J Rare Dis. 2015 Feb 10; 10:15. PMID: 25759012; PMCID: PMC4334766.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    107. Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Seland S, Ebermann I, Thiele H, Toliat M, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ, N?rnberg G, N?rnberg P, Altm?ller J, K?rber F. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Hum Mol Genet. 2015 May 01; 24(9):2594-603. PMID: 25616960; PMCID: PMC4383865.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    108. Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI, Erlandsen H, Kehl HG, Thiele H, Feigenbaum A, Hennekam RC, N?rnberg P, H?hne W, Crow YJ. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015 Feb 05; 96(2):275-82. PMID: 25620204; PMCID: PMC4320263.
      Citations: 98     Fields:    Translation:HumansCells
    109. Spier I, Holzapfel S, Zhao B, Horpaopan S, Vogt S, Chen S, Morak M, Raeder S, Kayser K, Stienen D, Adam R, Plotz G, Holinski-Feder E, Lifton RP, Thiele H, Hoffmann P, Steinke V, Aretz S, Altm?ller J, N?rnberg P. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer. 2015 Jul 15; 137(2):320-31. PMID: 25529843.
      Citations: 73     Fields:    Translation:Humans
    110. Borck G, Tan PL, Sowada N, Gueneau L, Thiele H, Kousi M, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Reymond A, Merla G, Katsanis N, Kubisch C, H?g F, Dentici ML, Medeira A, Lepri F, Wenzeck L, Altm?ller J, N?rnberg P, Dallapiccola B, Cramer P. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome Res. 2015 Feb; 25(2):155-66. PMID: 25561519; PMCID: PMC4315290.
      Citations: 49     Fields:    Translation:HumansAnimalsCells
    111. 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
    112. Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Thiele H, Moosa S, Beleggia F, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Wollnik B, Noegel AA, Newman WG, Altm?ller J, N?rnberg G, Yigit G, Tinschert S, Gillessen-Kaesbach G, N?rnberg P. Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):622-32. PMID: 25439729; PMCID: PMC4225581.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    113. Siekierska A, May P, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Caliebe A, Nagel I, Kohl B, Jacmin M, Hardies K, Weckhuysen S, Dorn T, Brilstra EH, Hjalgrim H, Koeleman BP, EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, de Witte PA, De Jonghe P, Helbig I, Balling R, Crawford AD, Esguerra CV, Schubert J, Langlois M, Huneau C, Becker F, R?schendorf F, Kecsk?s A, Riesch E, Baulac S, M?ller RS, Martin B, Biskup S, N?rnberg P, Weber YG, Lerche H. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014 Dec; 46(12):1327-32. PMID: 25362483.
      Citations: 93     Fields:    Translation:HumansAnimalsCells
    114. Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber Y, Becker F, Lerche H, Elger CE, Thiele H, N?rnberg P, Sander T, Kunz WS. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology. 2014 Dec 02; 83(23):2183-7. PMID: 25361775.
      Citations: 31     Fields:    Translation:HumansCells
    115. Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Hoffmann I, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Hurles ME, Noegel AA, Baig SM, Jackson AP, N?rnberg G, M?ller R, Cormier-Daire V, Dollfus H, Altm?ller J, H?hne W, N?rnberg P. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet. 2014 Dec; 46(12):1283-1292. PMID: 25344692; PMCID: PMC4676084.
      Citations: 88     Fields:    Translation:HumansAnimalsCells
    116. Lessel D, Vaz B, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Degoricija M, Burkhalter MD, Hofmann K, Thiele H, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Kubisch C, Halder S, Oehler J, Cabrera E, Freire R, H?gel J, Fertig R, Altm?ller J, N?rnberg G, N?rnberg P, Ramadan K. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nat Genet. 2014 Nov; 46(11):1239-44. PMID: 25261934; PMCID: PMC4343211.
      Citations: 111     Fields:    Translation:HumansAnimalsCells
    117. Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Koerber F, Neugebauer A, Hedergott A, Thiele H, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ, G?bel H, N?rnberg G, N?rnberg P, Altm?ller J. Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum Mutat. 2014 Oct; 35(10):1153-62. PMID: 25044745; PMCID: PMC4425427.
      Citations: 35     Fields:    Translation:HumansAnimalsCells
    118. Reinthaler EM, Lal D, Jurkowski W, Feucht M, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Thiele H, Toliat MR, EuroEPINOMICS Consortium, Lerche H, Sander T, Neubauer BA, Zimprich F, Steinb?ck H, Altm?ller J, N?rnberg P. Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia. 2014 Aug; 55(8):e89-93. PMID: 24995671.
      Citations: 26     Fields:    Translation:Humans
    119. Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Thiele H, Martin GM, Kubisch C, Oshima J, Gursoy-?zdemir Y, N?rnberg P. Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? Am J Med Genet A. 2014 Oct; 164A(10):2510-3. PMID: 24989684; PMCID: PMC4167236.
      Citations: 11     Fields:    Translation:Humans
    120. Khan MA, Rupp VM, Orpinell M, Hussain MS, Steinmetz MO, Enzinger C, Thiele H, Baig SM, Ansar M, Vincent JB, Speicher MR, Windpassinger C, Altm?ller J, H?hne W, N?rnberg G, N?rnberg P, G?nczy P. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Hum Mol Genet. 2014 Nov 15; 23(22):5940-9. PMID: 24951542.
      Citations: 37     Fields:    Translation:HumansCells
    121. Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Thiele H, Lemke JR, Lerche H, Sander T, Weber Y, Zimprich F, Neubauer BA, B?umel C, Altm?ller J, N?rnberg P. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol. 2014 May; 75(5):788-92. PMID: 24591017.
      Citations: 49     Fields:    Translation:Humans
    122. Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Wehner M, Wolf S, Fagerberg C, Bygum A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Kruse R, Schoch S, Betz RC, Fritz G, Wenzel J, Gr??er L, Altm?ller J, R?tten A, N?rnberg P, Hanneken S. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet. 2014 Jan 02; 94(1):135-43. PMID: 24387993; PMCID: PMC3882728.
      Citations: 58     Fields:    Translation:HumansCells
    123. Leipold E, Liebmann L, Korenke GC, Heinrich T, Giesselmann S, Baets J, Ebbinghaus M, Goral RO, Hennings JC, Bergmann M, Thiele H, Wetzel A, Timmerman V, De Jonghe P, Blum R, Schaible HG, Weis J, Heinemann SH, Kurth I, St?dberg T, Altm?ller J, N?rnberg P, H?bner CA. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet. 2013 Nov; 45(11):1399-404. PMID: 24036948.
      Citations: 123     Fields:    Translation:HumansAnimalsCells
    124. Koehler K, Malik M, Mahmood S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Thiele H, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Gie?elmann S, N?rnberg G, Altm?ller J, N?rnberg P, Br?mswig J, M?hlenberg R, H?bner CA. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet. 2013 Oct 03; 93(4):727-34. PMID: 24035193; PMCID: PMC3791256.
      Citations: 24     Fields:    Translation:HumansCells
    125. Lal D, Reinthaler EM, Toliat MR, Thiele H, Lerche H, Hahn A, Muhle H, Sander T, Zimprich F, Neubauer BA, Altm?ller J, N?rnberg P, M?ller RS. RBFOX1 and RBFOX3 mutations in rolandic epilepsy. PLoS One. 2013; 8(9):e73323. PMID: 24039908; PMCID: PMC3765197.
      Citations: 58     Fields:    Translation:Humans
    126. Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Becker F, Weber YG, Feucht M, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Toliat MR, Thiele H, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S, J?hn JA, M?ller RS, Guerrero L?pez R, Serratosa JM, Sperner J, Steinb?ck H, Altm?ller J, N?rnberg P. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013 Sep; 45(9):1067-72. PMID: 23933819.
      Citations: 162     Fields:    Translation:HumansCells
    127. Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G, N?rnberg P. Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. Am J Hum Genet. 2013 Sep 05; 93(3):524-9. PMID: 23932106; PMCID: PMC3769928.
      Citations: 40     Fields:    Translation:HumansAnimalsCells
    128. Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Frommolt P, Thiele H, Wollnik B, Neubauer BA, Noegel AA, N?rnberg G, Altm?ller J, H?hne W, Yigit G, N?rnberg P. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum Mol Genet. 2013 Dec 20; 22(25):5199-214. PMID: 23918663.
      Citations: 60     Fields:    Translation:HumansCells
    129. 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
    130. Shahrzad N, Chong JX, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, McLeod DR, Thiele H, Waggoner D, Boycott KM, Schoser B, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE, B?gershausen N, von Kleist-Retzow JC, N?rnberg G, Altm?ller J, N?rnberg P. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11; 93(1):181-90. PMID: 23830518; PMCID: PMC3710757.
      Citations: 47     Fields:    Translation:HumansCells
    131. Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Thiele H, Jamil AZ, Abbas G, Klein C, Naz S, Lohmann K, Arif B, N?rnberg G, N?rnberg P, Br?ggemann A. A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. JAMA Neurol. 2013 Jun; 70(6):783-7. PMID: 23700088.
      Citations: 18     Fields:    Translation:Humans
    132. Varga RE, Fadel H, Valenzuela I, Speziani F, Gonzalez M, Rudenskaia G, Thiele H, Alvarez V, Gamez J, Garbern JY, Zuchner S, Beetz C, Sch?le R, N?rnberg G, Altm?ller J, N?rnberg P. Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. Hum Mutat. 2013 Jun; 34(6):860-3. PMID: 23483706.
      Citations: 10     Fields:    Translation:HumansCells
    133. Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Becker K, Casper R, Traupe H, Futerman AH, Hennies HC, M?ller D, N?rnberg G, Altm?ller J, N?rnberg P. Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol. 2013 Sep; 133(9):2202-11. PMID: 23549421.
      Citations: 59     Fields:    Translation:HumansAnimalsCells
    134. Lemaire M, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Martinez F, Ji W, Overton JD, Mane SM, Thiele H, Morin D, Deschenes G, Llanas B, Collard L, Majid MA, Simkova E, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP, Fr?meaux-Bacchi V, Nobili F, N?rnberg G, Altm?ller J, Baudouin V, N?rnberg P. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet. 2013 May; 45(5):531-6. PMID: 23542698; PMCID: PMC3719402.
      Citations: 187     Fields:    Translation:Humans
    135. Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Saxena R, Chapman ER, Dent EW, Audhya A, N?rnberg G, Altm?ller J, N?rnberg P. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc Natl Acad Sci U S A. 2013 Mar 26; 110(13):5091-6. PMID: 23479643; PMCID: PMC3612678.
      Citations: 39     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
    136. Biele G, Thiele H, Heekeren HR, Li SC, H?mmerer D, M?ller V, N?rnberg P. Effects of PPP1R1B (DARPP-32) Polymorphism on Feedback-Related Brain Potentials Across the Life Span. Front Psychol. 2013; 4:89. PMID: 23459765; PMCID: PMC3586677.
      Citations: 4     
    137. Lal D, Becker K, Motameny S, Thiele H, Ahting U, Rolinski B, Neubauer BA, Hahn A, Altm?ller J, N?rnberg P. Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. Neurogenetics. 2013 Feb; 14(1):85-7. PMID: 23334465.
      Citations: 6     Fields:    Translation:Humans
    138. Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, White JK, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G, Mir? X, D?sir J, Altm?ller J, N?rnberg G, N?rnberg P. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 07; 91(6):998-1010. PMID: 23200864; PMCID: PMC3516591.
      Citations: 47     Fields:    Translation:HumansAnimalsCells
    139. Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Frommolt P, Hofmann K, Konen O, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L, N?rnberg G, Altm?ller J, N?rnberg P. eIF2? mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. Mol Cell. 2012 Nov 30; 48(4):641-6. PMID: 23063529; PMCID: PMC3513554.
      Citations: 41     Fields:    Translation:HumansAnimalsCells
    140. Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Thiele H, Robenek H, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR, Coelho D, N?rnberg P, H?hne W. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct; 44(10):1152-5. PMID: 22922874.
      Citations: 75     Fields:    Translation:HumansCells
    141. Thiele H, Ohlenbusch A, Maschke U, Frommolt P, Zirn B, Ebinger F, Siemes H, Brockmann K, Rosewich H, Altm?ller J, N?rnberg P, G?rtner J. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012 Sep; 11(9):764-73. PMID: 22850527.
      Citations: 103     Fields:    Translation:Humans
    142. Hussain MS, Baig SM, Neumann S, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Frommolt P, Thiele H, Noegel AA, N?rnberg G, Altm?ller J, N?rnberg P. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet. 2012 May 04; 90(5):871-8. PMID: 22521416; PMCID: PMC3376485.
      Citations: 84     Fields:    Translation:HumansCells
    143. Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Pohl E, Becker J, Frommolt P, Sonntag C, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Wirth R, Hammerschmidt M, Wollnik B, Carney TJ, Yigit G, Altm?ller J, Sch?nau E, N?rnberg P. Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet. 2012 Apr 06; 90(4):661-74. PMID: 22482805; PMCID: PMC3322236.
      Citations: 102     Fields:    Translation:HumansAnimalsCells
    144. Quednow BB, Mobascher A, Nothnagel M, Musso F, Savary N, Petrovsky N, Frommann I, Lennertz L, Spreckelmeyer KN, Wienker TF, Dahmen N, Thuerauf N, Clepce M, Kiefer F, Majic T, Maier W, Diaz-Lacava A, Toliat MR, Thiele H, Wagner M, Winterer G, Brinkmeyer J, Gr?nder G, M?ssner R, Gallinat J, N?rnberg P. Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating. Proc Natl Acad Sci U S A. 2012 Apr 17; 109(16):6271-6. PMID: 22451930; PMCID: PMC3341057.
      Citations: 29     Fields:    Translation:Humans
    145. Abdallah AT, Motameny S, Thiele H, Becker C, Stemshorn K, Fischer M, Freilinger T, Frommolt P, Altm?ller J, N?rnberg P. Assessing the enrichment performance in targeted resequencing experiments. Hum Mutat. 2012 Apr; 33(4):635-41. PMID: 22290614.
      Citations: 19     Fields:    Translation:Humans
    146. Weber S, Thiele H, Mir S, Toliat MR, Reutter H, Draaken M, Ludwig M, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Woolf AS, Sozeri B, Altm?ller J, N?rnberg P. Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am J Hum Genet. 2011 Nov 11; 89(5):668-74. PMID: 22077972; PMCID: PMC3213389.
      Citations: 42     Fields:    Translation:HumansAnimalsCells
    147. Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Wagner F, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Gal A, del Castillo I, Kurth I, Altm?ller J, Vi?uela A, N?rnberg G, N?rnberg P, H?bner CA. Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. Am J Hum Genet. 2011 May 13; 88(5):621-7. PMID: 21549336; PMCID: PMC3146719.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    148. Thiele H, du Moulin M, Barczyk K, George C, Schwindt W, Frosch M, Kurlemann G, Roth J, Rutsch F, N?rnberg G, N?rnberg P. Cerebral arterial stenoses and stroke: novel features of Aicardi-Gouti?res syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat. 2010 Nov; 31(11):E1836-50. PMID: 20842748; PMCID: PMC3049152.
      Citations: 31     Fields:    Translation:HumansCells
    149. Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Madruga-Garrido M, Opitz L, Rodriguez D, Schumacher J, Thiele H, Thoms S, Steinfeld R, Henneke M, Kohlsch?tter A, Kr?tzner R, Mayer M, R?schendorf F, N?rnberg P, G?rtner J. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet. 2009 Jul; 41(7):773-5. PMID: 19525954.
      Citations: 62     Fields:    Translation:Humans
    150. Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Todt U, Kubisch C, N?rnberg P, Pt?cek LJ, G?bel H. Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura. Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 05; 147B(1):37-41. PMID: 17680603.
      Citations: 11     Fields:    Translation:HumansCells
    151. Jenne DE, Kley RA, Vorgerd M, Weis J, Reimann H, Albrecht B, Thiele H, Meng G, Witt CC, Labeit S, Schr?der JM, N?rnberg P, M?ller CR. Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3. Biol Chem. 2005 Jan; 386(1):61-7. PMID: 15843148.
      Citations: 4     Fields:    Translation:HumansCells
    152. Thiele H, N?rnberg P. HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics. 2005 Apr 15; 21(8):1730-2. PMID: 15377505.
      Citations: 146     Fields:    
    153. Sakano M, Kitagawa H, Sugahara K, Rajab A, Ritter H, Leschik G, Mundlos S, Thiele H, H?hne W, N?rnberg P. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci U S A. 2004 Jul 06; 101(27):10155-60. PMID: 15215498; PMCID: PMC454181.
      Citations: 58     Fields:    Translation:HumansCells
    154. Schuelke M, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloglu H, Weschke B, Uhlenberg B, R?schendorf F, N?rnberg P, H?bner C, G?rtner J. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet. 2004 Aug; 75(2):251-60. PMID: 15192806; PMCID: PMC1216059.
      Citations: 99     Fields:    Translation:HumansCells
    155. Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O, Leistenschneider P, Devoto M, Zenner HP, Blin N, Ozkarakas H, Kupka S, Pfister M, N?rnberg P. A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem. 2004; 14(4-6):369-76. PMID: 15319541.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    156. Thiele H, Haack B, Blin N, Zenner HP, Kupka S, Pfister M, T?th T, Sziklai I, N?rnberg P. A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10. Mol Med. 2002 Oct; 8(10):607-11. PMID: 12477971; PMCID: PMC2039947.
      Citations: 30     Fields:    Translation:HumansCells

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