Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

e.g. CCGA
(min 2 characters)

Matthias Begemann

Dr.
Christian-Albrechts-University Kiel
Institute for Human Genetics
Pauwelsstraße 30, 52074 Aachen, Germany
Aachen 52074
+49 241 8038298
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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. Eggermann T, Monk D, de Nanclares GP, Kagami M, Giabicani E, Riccio A, T?mer Z, Kalish JM, Tauber M, Duis J, Weksberg R, Maher ER, Begemann M, Elbracht M. Imprinting disorders. Nat Rev Dis Primers. 2023 Jun 29; 9(1):33. PMID: 37386011.
      Citations: 14     Fields:    
    2. Rolles B, Meyer R, Begemann M, Elbracht M, Jost E, Stelljes M, Kurth I, Br?mmendorf TH, Silling G. DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation. Blood Cancer J. 2023 05 10; 13(1):73. PMID: 37160870; PMCID: PMC10170132.
      Citations: 5     Fields:    Translation:HumansCells
    3. Mattern L, Begemann M, Delbr?ck H, Holschbach P, Schr?der S, Schacht SM, Kurth I, Elbracht M. Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco. Bone Rep. 2023 Jun; 18:101683. PMID: 37214758; PMCID: PMC10193157.
      Citations: 1     
    4. Tometten M, Kirschner M, Meyer R, Begemann M, Halfmeyer I, Vieri M, Kricheldorf K, Maurer A, Platzbecker U, Radsak M, Schafhausen P, Corbacioglu S, H?chsmann B, Matthias Wilk C, Hinze C, Chromik J, Heuser M, Kreuter M, Koschmieder S, Panse J, Isfort S, Kurth I, Br?mmendorf TH, Beier F. Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria. Hemasphere. 2023 May; 7(5):e874. PMID: 37096215; PMCID: PMC10121438.
      Citations: 4     
    5. Bilo L, Ochoa E, Lee S, Dey D, Kurth I, Kraft F, Rodger F, Docquier F, Toribio A, Bottolo L, Binder G, Fekete G, Elbracht M, Maher ER, Begemann M, Eggermann T. Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach. Clin Epigenetics. 2023 03 01; 15(1):35. PMID: 36859312; PMCID: PMC9979536.
      Citations: 4     Fields:    Translation:Cells
    6. Schreibing F, Hannani MT, Kim H, Nagai JS, Ticconi F, Fewings E, Bleckwehl T, Begemann M, Torow N, Kuppe C, Kurth I, Kranz J, Frank D, Anslinger TM, Ziegler P, Kraus T, Enczmann J, Balz V, Windhofer F, Balfanz P, Kurts C, Marx G, Marx N, Dreher M, Schneider RK, Saez-Rodriguez J, Costa I, Hayat S, Kramann R. Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling. Front Immunol. 2022; 13:1066176. PMID: 36591270; PMCID: PMC9800604.
      Citations: 10     Fields:    Translation:HumansCells
    7. Eggermann K, Meyer R, Begemann M, Dey D, B?ltmann E, Kurth I, Korenke GC, Knopp C. Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy. Genes (Basel). 2022 12 14; 13(12). PMID: 36553623; PMCID: PMC9778166.
      Citations: 3     Fields:    Translation:Humans
    8. Kirschner M, Rolles B, Crysandt M, R?llig C, St?lzel F, Kramer M, Bornh?user M, Serve H, Platzbecker U, M?ller-Tidow C, Kricheldorf K, Vieri M, Begemann M, Maurer A, Wlodarski MW, Sahoo SS, Br?mmendorf TH, Jost E, Beier F. Impaired Overall Survival in Young Patients With Acute Myeloid Leukemia and Variants in Genes Predisposing for Myeloid Malignancies. Hemasphere. 2022 Nov; 6(11):e787. PMID: 36258922; PMCID: PMC9561384.
      Citations: 1     
    9. Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, T?mer Z. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clin Epigenetics. 2022 03 16; 14(1):41. PMID: 35296332; PMCID: PMC8928698.
      Citations: 17     Fields:    Translation:HumansCells
    10. Haag N, Tan EC, Begemann M, Buschmann L, Kraft F, Holschbach P, Lai AHM, Brett M, Mochida GH, DiTroia S, Pais L, Neil JE, Al-Saffar M, Bastaki L, Walsh CA, Kurth I, Knopp C. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. Eur J Hum Genet. 2021 11; 29(11):1663-1668. PMID: 34413497; PMCID: PMC8560748.
      Citations: 6     Fields:    Translation:Humans
    11. 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: 6     Fields:    Translation:HumansAnimalsCells
    12. Franzen J, Georgomanolis T, Selich A, Kuo CC, Brant L, Mulabdic MS, Fernandez-Rebollo E, Grezella C, Ostrowska A, Begemann M, Ho AD, Rothe M, Schambach A, Papantonis A, Wagner W, St?ger R, Nikolic M, Rath B. DNA methylation changes during long-term in vitro cell culture are caused by epigenetic drift. Commun Biol. 2021 05 19; 4(1):598. PMID: 34011964; PMCID: PMC8134454.
      Citations: 22     Translation:HumansCells
    13. Begemann MJH, Sommer IE, Brand RM, Oomen PP, Jongeneel A, Berkhout J, Molenaar RE, Wielage NN, Toh WL, Rossell SL, Bell IH. Auditory verbal hallucinations and childhood trauma subtypes across the psychosis continuum: a cluster analysis. Cogn Neuropsychiatry. 2022 Mar-May; 27(2-3):150-168. PMID: 33980128.
      Citations: 4     Fields:    Translation:Humans
    14. Fiegle E, Crysandt M, Silling G, Elbracht M, Begemann M, Beier F, Jost E, Bouillon AS, Br?mmendorf TH. Successful allogeneic stem cell transplantation of a patient with Werner syndrome and acute myeloid leukemia. Leuk Res. 2021 09; 108:106609. PMID: 34006384.
      Citations:    Fields:    Translation:Humans
    15. Eggermann T, Begemann M, Pfeiffer L. Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains. Clin Epigenetics. 2021 02 04; 13(1):30. PMID: 33541417; PMCID: PMC7863277.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    16. Meyer R, Begemann M, Dey D, Kuechler A, Elgizouli M, Schara U, Ambrozaityte L, Burnyte B, Kenawy A, Kroisel P, Fekete G, Opladen T, Elbracht M, Eggermann T, H?bner CT, Schr?der C, Demuth S. One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome. Orphanet J Rare Dis. 2021 01 22; 16(1):42. PMID: 33482836; PMCID: PMC7821667.
      Citations: 10     Fields:    Translation:HumansCells
    17. Eggermann T, Begemann M, Elbracht M, Kadgien G. Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family. Eur J Hum Genet. 2021 04; 29(4):575-580. PMID: 33221824; PMCID: PMC8115525.
      Citations: 21     Fields:    Translation:HumansCells
    18. Begemann M, Dey D, Elbracht M, Eggermann T, Br?ck J. Molecular characterization of temple syndrome families with 14q32 epimutations. Eur J Med Genet. 2020 Dec; 63(12):104077. PMID: 33010492.
      Citations: 4     Fields:    Translation:HumansCells
    19. Eggermann T, Knopp C, Kratz C, Tasic V, Kurth I, Elbracht M, Eggermann K, Begemann M, Br?ck J, Fekete G. Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important. J Mol Med (Berl). 2020 10; 98(10):1447-1455. PMID: 32839827; PMCID: PMC7524824.
      Citations: 10     Fields:    Translation:Humans
    20. Meyer R, Begemann M, Demuth S, Kraft F, Dey D, Busse S, Zerres K, Kurth I, Eggermann T, Elbracht M, Sch?ler H, H?usler M. Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies. Clin Genet. 2020 10; 98(4):408-412. PMID: 32720325.
      Citations: 8     Fields:    Translation:Humans
    21. Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Luna EJ, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C, G?tzl R, Lochm?ller H. Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain. 2020 08 01; 143(8):2406-2420. PMID: 32779703; PMCID: PMC7447519.
      Citations: 14     Fields:    Translation:HumansCells
    22. Meyer R, Kenawy A, Ambrozaityte L, Matuleviciene A, Kraft F, Begemann M, Elbracht M, Eggermann T, H?bner CT. HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence. J Clin Endocrinol Metab. 2020 07 01; 105(7). PMID: 32421827.
      Citations: 9     Fields:    Translation:Humans
    23. Karch S, Moog U, Lengyel A, Pinti E, Eggermann T, Begemann M, E?inger C, Fekete G. Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome. Clin Epigenetics. 2020 05 11; 12(1):63. PMID: 32393365; PMCID: PMC7216698.
      Citations: 8     Fields:    Translation:HumansCells
    24. Elbracht M, Mackay D, Begemann M, Eggermann T, Kagan KO. Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences. Hum Reprod Update. 2020 02 28; 26(2):197-213. PMID: 32068234.
      Citations: 33     Fields:    Translation:HumansAnimals
    25. Begemann M, Lidov HG, Kurth I, Darras BT, Elbracht M, H?usler MG. A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. Eur J Med Genet. 2020 Apr; 63(4):103826. PMID: 31857255.
      Citations: 6     Fields:    Translation:HumansCells
    26. Ferreira MSV, Kirschner M, Halfmeyer I, Isfort S, Vieri M, Abels A, Bouillon AS, Begemann M, Schemionek M, Maurer A, Koschmieder S, Wilop S, Panse J, Beier F, Estrada N, Xicoy B, Zamora L, Br?mmendorf TH. Comparison of flow-FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathies. Ann N Y Acad Sci. 2020 04; 1466(1):93-103. PMID: 31647584.
      Citations: 20     Fields:    Translation:HumansCells
    27. Begemann M, Waszak SM, Robinson GW, Sharma T, Knopp C, Kraft F, Moser O, Mynarek M, Guerrini-Rousseau L, Brugieres L, Pietsch T, Bowers DC, Chintagumpala M, Sahm F, Korbel JO, Rutkowski S, Eggermann T, Gajjar A, Northcott P, Elbracht M, Pfister SM, Kontny U, Kurth I, J?ger N, Varlet P. Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma. J Clin Oncol. 2020 01 01; 38(1):43-50. PMID: 31609649; PMCID: PMC6943973.
      Citations: 36     Fields:    Translation:HumansCells
    28. Spier I, Engels H, Stutte S, Reutter H, Bartels E, Matos Meder S, Begemann M, Mangold E, Eggermann T. Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype. Am J Med Genet A. 2019 11; 179(11):2252-2256. PMID: 31373173.
      Citations: 4     Fields:    Translation:Humans
    29. Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M. Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia. Bone. 2019 10; 127:446-451. PMID: 31325655.
      Citations: 3     Fields:    Translation:Humans
    30. Eggermann T, Begemann M, Kurth I, Elbracht M. Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. Eur J Med Genet. 2019 Jul; 62(7):103671. PMID: 31100449.
      Citations: 6     Fields:    Translation:HumansCells
    31. Li Z, Look T, Begemann M, Zenke M, Costa IG, Schulz MH. Identification of transcription factor binding sites using ATAC-seq. Genome Biol. 2019 02 26; 20(1):45. PMID: 30808370; PMCID: PMC6391789.
      Citations: 213     Fields:    Translation:HumansAnimalsCells
    32. Kraft F, Wesseler K, Begemann M, Kurth I, Elbracht M, Eggermann T. Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation. Clin Epigenetics. 2019 02 15; 11(1):30. PMID: 30770769; PMCID: PMC6377752.
      Citations: 9     Fields:    Translation:HumansCells
    33. Kraft F, Haag N, Korenke GC, Knopp C, Mull M, Bergmann M, Weis J, Elbracht M, Begemann M, Kurth I, Karsai G, H?nisch B, Othman A, Suriyanarayanan S, Steiner R, Schr?der JM, Hornemann T. DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans. J Clin Invest. 2019 03 01; 129(3):1229-1239. PMID: 30620338; PMCID: PMC6391115.
      Citations: 33     Fields:    Translation:HumansCells
    34. Knopp C, Damen R, Stoppe A, Mull M, Elbracht M, Kurth I, Begemann M, H?usler M, M?ller B. PDE10A mutation in two sisters with a hyperkinetic movement disorder - Response to levodopa. Parkinsonism Relat Disord. 2019 06; 63:240-242. PMID: 30777652.
      Citations: 2     Fields:    Translation:Humans
    35. Neuheuser L, Meyer R, Begemann M, Elbracht M, Eggermann T. Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome. Mol Cell Probes. 2019 04; 44:1-7. PMID: 30610903.
      Citations: 6     Fields:    Translation:Humans
    36. Elbracht M, Kraft F, Begemann M, Holschbach P, Mull M, Kurth I, Hehr U, Kabat IM, M?ller B, H?usler M. Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. Mol Genet Genomic Med. 2018 11; 6(6):1255-1260. PMID: 30393983; PMCID: PMC6305664.
      Citations: 4     Fields:    Translation:Humans
    37. Soellner L, Kraft F, Sauer S, Begemann M, Kurth I, Elbracht M, Eggermann T. Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers. Eur J Hum Genet. 2019 01; 27(1):42-48. PMID: 30218098; PMCID: PMC6303262.
      Citations: 7     Fields:    Translation:HumansCells
    38. Eggermann T, Begemann M, Elbracht M, Kurth I, Ledig S, Wieacker P. Search for altered imprinting marks in Mayer-Rokitansky-K?ster-Hauser patients. Mol Genet Genomic Med. 2018 11; 6(6):1225-1228. PMID: 30099855; PMCID: PMC6305658.
      Citations: 4     Fields:    Translation:HumansCells
    39. Kirschner M, Maurer A, Wlodarski MW, Ventura Ferreira MS, Bouillon AS, Halfmeyer I, Blau W, Kreuter M, Rosewich M, Corbacioglu S, Beck J, Radsak MP, Wilk CM, Koschmieder S, Begemann M, Kurth I, Schemionek M, Beier F, Schwarz M, Bittenbring J, Br?mmendorf TH. Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita. Leukemia. 2018 08; 32(8):1762-1767. PMID: 29749397.
      Citations: 13     Fields:    Translation:HumansCells
    40. Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Turner CLS, Patalan M, Gizewska M, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG, Kleinle S, Gonz?lez Fassrainer D, Oehl-Jaschkowitz B, Binder G. Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring. J Med Genet. 2018 07; 55(7):497-504. PMID: 29574422; PMCID: PMC6047157.
      Citations: 76     Fields:    Translation:HumansCells
    41. Soellner L, Kopp KM, Meyer R, Begemann M, Rudnik S, Rath W, Eggermann T, Zerres K, M?tze S. NLRP genes and their role in preeclampsia and multi-locus imprinting disorders. J Perinat Med. 2018 Feb 23; 46(2):169-173. PMID: 28753543.
      Citations: 9     Fields:    Translation:HumansCells
    42. Maijer K, Begemann MJH, Palmen SJMC, Sommer IEC, Leucht S. Auditory hallucinations across the lifespan: a systematic review and meta-analysis. Psychol Med. 2018 04; 48(6):879-888. PMID: 28956518.
      Citations: 50     Fields:    Translation:Humans
    43. Eggermann T, Dicks S, Kanber D, Albrecht B, Begemann M, Kurth I, Beygo J, Buiting K, Oehl-Jaschkowitz B, Thomas W. The maternal uniparental disomy of chromosome 6?(upd(6)mat) "phenotype": result of placental trisomy?6?mosaicism? Mol Genet Genomic Med. 2017 11; 5(6):668-677. PMID: 29178649; PMCID: PMC5702562.
      Citations: 13     Fields:    Translation:HumansCells
    44. Chantot-Bastaraud S, Stratmann S, Begemann M, Elbracht M, Harbison M, Eggermann T, Brioude F, Graul-Neumann L, Netchine I. Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction. Mol Cytogenet. 2017; 10:28. PMID: 28770003; PMCID: PMC5526280.
      Citations: 7     
    45. Soellner L, Begemann M, Degenhardt F, Geipel A, Eggermann T, Mangold E. Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring. Eur J Hum Genet. 2017 08; 25(8):924-929. PMID: 28561018; PMCID: PMC5567160.
      Citations: 25     Fields:    Translation:HumansCells
    46. Meyer R, Soellner L, Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T. Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management. J Pediatr. 2017 08; 187:206-212.e1. PMID: 28529015.
      Citations: 13     Fields:    Translation:Humans
    47. Scheuvens R, Begemann M, Soellner L, Elbracht M, Eggermann T, Meschede D, Raabe-Meyer G, Schubert R. Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself. Clin Genet. 2017 Jul; 92(1):45-51. PMID: 28032339.
      Citations: 18     Fields:    Translation:HumansCells
    48. Soellner L, Begemann M, Mackay DJ, Maher ER, Temple IK, Netchine I, Eggermann T, Gr?nskov K, T?mer Z, Monk D, Riccio A, Linglart A. Recent Advances in Imprinting Disorders. Clin Genet. 2017 01; 91(1):3-13. PMID: 27363536.
      Citations: 52     Fields:    Translation:Humans
    49. Bens S, Kolarova J, Caliebe A, Eggermann T, Prawitt D, Begemann M, Enklaar T, Gutwein J, Haake A, Paul U, Richter J, Soellner L, Vater I, Ammerpohl O, Siebert R, Beygo J, Buiting K, Gillessen-Kaesbach G, Thiele-Schmitz S, Monk D, Horsthemke B. Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances. Epigenomics. 2016 06; 8(6):801-16. PMID: 27323310.
      Citations: 20     Fields:    Translation:HumansCells
    50. Bliek J, Algar E, Russo S, Moore G, Antoniadi T, Macdonald F, Lombardi P, Prawitt D, Maher ER, Mannens M, Weksberg R, Mackay DJ, Eggermann K, Brioude F, Buiting K, T?mer Z, Monk D, Netchine I, Soellner L, Begemann M, Riccio A, Lapunzina P, Gr?nskov K, Eggermann T. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2016 10; 24(10):1377-87. PMID: 27165005; PMCID: PMC5027690.
      Citations: 25     Fields:    Translation:HumansCells
    51. Bohne F, Langer D, Eider CS, Cencic R, Begemann M, Elbracht M, Eggermann T, Zechner U, Pelletier J, Zabel BU, Enklaar T, Prawitt D, Martin? U, B?low L. Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation. Clin Epigenetics. 2016; 8:47. PMID: 27152123; PMCID: PMC4857248.
      Citations: 12     Fields:    Translation:HumansCells
    52. Sachwitz J, Ambrozaityte L, Kucinskas V, Soellner L, Begemann M, Eggermann T, Strobl-Wildemann G, Fekete G. Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. BMC Med Genet. 2016 Mar 11; 17:20. PMID: 26969265; PMCID: PMC4787016.
      Citations: 8     Fields:    Translation:HumansCells
    53. Begemann M, Soellner L, Eggermann T, Carrera IA, de Zald?var MS, Mart?n R. Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features. Am J Med Genet A. 2016 Mar; 170(3):743-9. PMID: 26663145.
      Citations: 6     Fields:    Translation:HumansCells
    54. Begemann M, Soellner L, Eggermann T, Riess A, Binder G, Ziegler J. First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation. Eur J Med Genet. 2016 Jan; 59(1):1-4. PMID: 26691664.
      Citations: 7     Fields:    Translation:HumansCells
    55. Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Gonzales M, Mannens M, Chrzanowska K, Walasek MK, Moore GE, Mackay DJ, Temple K, Ogata T, Weksberg R, Algar E, Eggermann T, Brioude F, Netchine I, Gr?nskov K, T?mer Z, Monk D, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Gillessen-Kaesbach G, Lapunzina P. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. Eur J Hum Genet. 2016 06; 24(6):784-93. PMID: 26508573; PMCID: PMC4867462.
      Citations: 23     Fields:    Translation:Humans
    56. Soellner L, Begemann M, Eggermann T, M?ller A, Binder G. No major contribution of IGF2 variants to the etiology of sporadic 11p15-associated imprinting disorders. Am J Med Genet A. 2016 Jan; 170A(1):283-4. PMID: 26447000.
      Citations: 2     Fields:    Translation:HumansCells
    57. Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Baple E, Mansour S, Temple IK, Mackay DJ, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T. Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans. Nat Commun. 2015 Sep 01; 6:8086. PMID: 26323243; PMCID: PMC4568303.
      Citations: 85     Fields:    Translation:HumansCells
    58. Zirn B, Santen G, Wirthgen E, Soellner L, Schweizer R, van Workum W, Binder G, Eggermann T, Begemann M, B?ttel HM. Paternally Inherited IGF2 Mutation and Growth Restriction. N Engl J Med. 2015 Jul 23; 373(4):349-56. PMID: 26154720.
      Citations: 91     Fields:    Translation:Humans
    59. Soellner L, Monk D, Rezwan FI, Begemann M, Mackay D, Eggermann T. Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management. Mol Cell Probes. 2015 Oct; 29(5):282-90. PMID: 26070988.
      Citations: 5     Fields:    Translation:Humans
    60. Knopp C, Rudnik-Sch?neborn S, Eggermann T, Bergmann C, Begemann M, Schoner K, Zerres K, Ortiz Br?chle N. Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing. Mol Cell Probes. 2015 Oct; 29(5):299-307. PMID: 26003401.
      Citations: 16     Fields:    Translation:Humans
    61. Eggermann T, Maher ER, Begemann M, Binder G, Brioude F, Lapunzina P, Cubellis MV, Bergad? I, Prawitt D. CDKN1C mutations: two sides of the same coin. Trends Mol Med. 2014 Nov; 20(11):614-22. PMID: 25262539.
      Citations: 42     Fields:    Translation:HumansAnimalsCells
    62. Eggermann T, Heilsberg AK, Bens S, Siebert R, Beygo J, Buiting K, Begemann M, Soellner L. Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing. J Mol Med (Berl). 2014 Jul; 92(7):769-77. PMID: 24658748.
      Citations: 24     Fields:    Translation:HumansCells
    63. Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Vierzig A, Green A, Heller R, Buiting K, Eggermann T, Platzer K, Gillessen-Kaesbach G. Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. Eur J Hum Genet. 2015 Feb; 23(2):180-8. PMID: 24801763; PMCID: PMC4297900.
      Citations: 29     Fields:    Translation:HumansCells
    64. Soellner L, Spengler S, Begemann M, Wollmann HA, Binder G, Eggermann T. IGF1R mutation analysis in short children with Silver-Russell syndrome features. J Pediatr Genet. 2013 Sep; 2(3):113-7. PMID: 27625849; PMCID: PMC5020970.
      Citations:    
    65. Eggermann T, Elbracht M, Reutter H, Soellner L, Spengler S, Begemann M, Schr?der C. Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders. J Pediatr. 2013 Oct; 163(4):1202-7. PMID: 23809048.
      Citations: 3     Fields:    Translation:HumansCells
    66. Eggermann T, Begemann M, Spengler S, Schneider-R?tzke B. Isolated hypermethylation of GRB10 (7p12.2) in a Silver-Russell syndrome patient carrying a 20p13 microdeletion. Clin Genet. 2014 Apr; 85(4):399-400. PMID: 23745689.
      Citations: 3     Fields:    Translation:HumansCells
    67. Oehl-Jaschkowitz B, Begemann M, Hennes P, Zerres K, Eggermann T, Spengler S. Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome. Mol Syndromol. 2013 Jun; 4(5):246-9. PMID: 23885231; PMCID: PMC3711485.
      Citations: 8     
    68. Gogiel M, Begemann M, Spengler S, Soellner L, Eggermann T, Strobl-Wildemann G, G?retzlehner U. Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour. Eur J Hum Genet. 2013 Jul; 21(7):788-91. PMID: 23188046; PMCID: PMC3722953.
      Citations: 14     Fields:    Translation:HumansCells
    69. Eggermann T, Begemann M, Gogiel M, Cazorla R, Spengler S, Palomares M, Vallesp?n E, Fern?ndez L, Garc?a-Mi?a?r S. Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10. Am J Med Genet A. 2012 Nov; 158A(11):2815-9. PMID: 22987336.
      Citations: 4     Fields:    Translation:HumansCells
    70. Begemann M, Spengler S, Gogiel M, Grasshoff U, Bonin M, Betz RC, Dufke A, Spier I, Eggermann T. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. J Med Genet. 2012 Sep; 49(9):547-53. PMID: 22844132; PMCID: PMC3439641.
      Citations: 35     Fields:    Translation:HumansCells
    71. Spengler S, Begemann M, Baudis M, Denecke B, Kroisel PM, Oehl-Jaschkowitz B, Schulze B, Raabe-Meyer G, Spaich C, Jauch A, Moog U, Zerres K, Eggermann T, Ortiz Br?chle N, Bl?mel P. Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features. J Pediatr. 2012 Nov; 161(5):933-42. PMID: 22683032.
      Citations: 15     Fields:    Translation:HumansCells
    72. Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. Epigenetic and genetic diagnosis of Silver-Russell syndrome. Expert Rev Mol Diagn. 2012 Jun; 12(5):459-71. PMID: 22702363.
      Citations: 7     Fields:    Translation:HumansCells
    73. Begemann M, Leisten I, Soellner L, Zerres K, Eggermann T, Spengler S. Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci. Epigenetics. 2012 May; 7(5):473-81. PMID: 22419125.
      Citations: 15     Fields:    Translation:HumansCells
    74. Spengler S, Kordass U, Eggermann T, Begemann M, Schr?der C. Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation. Am J Med Genet A. 2012 Feb; 158A(2):423-8. PMID: 22246686.
      Citations: 14     Fields:    Translation:HumansCells
    75. Eggermann T, Leisten I, Binder G, Begemann M, Spengler S. Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders. Epigenomics. 2011 Oct; 3(5):625-37. PMID: 22126250.
      Citations: 10     Fields:    Translation:HumansCells
    76. Spengler S, Begemann M, Binder G, Eggermann T. Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome. Genet Test Mol Biomarkers. 2011 Oct; 15(10):725-6. PMID: 21612428.
      Citations:    Fields:    Translation:HumansCells
    77. Binder G, Begemann M, Eggermann T, Kannenberg K. Silver-Russell syndrome. Best Pract Res Clin Endocrinol Metab. 2011 Feb; 25(1):153-60. PMID: 21396582.
      Citations: 13     Fields:    Translation:HumansCells
    78. Eggermann T, Begemann M, Spengler S, Kordass U, Binder G, Schr?der C. Genetic and epigenetic findings in Silver-Russell syndrome. Pediatr Endocrinol Rev. 2010 Dec; 8(2):86-93. PMID: 21150838.
      Citations: 16     Fields:    Translation:HumansCells
    79. Begemann M, Spengler S, Kanber D, Haake A, Baudis M, Leisten I, Binder G, Markus S, Rupprecht T, Segerer H, Fricke-Otto S, Siebert R, Buiting K, Eggermann T, M?hlenberg R. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues. Clin Genet. 2011 Jul; 80(1):83-8. PMID: 20738330.
      Citations: 28     Fields:    Translation:HumansCells
    80. Eggermann T, Begemann M, Binder G, Spengler S. Silver-Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis. 2010 Jun 23; 5:19. PMID: 20573229; PMCID: PMC2907323.
      Citations: 30     Fields:    Translation:HumansCells