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Page 1
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. Peron A, et al. Among authors: gradek ga. Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39448799
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Lamers IJC, Reijnders MRF, Venselaar H, Kraus A; DDD Study; Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T, Roepman R. Lamers IJC, et al. Among authors: gradek ga. Am J Hum Genet. 2017 Nov 2;101(5):824-832. doi: 10.1016/j.ajhg.2017.09.015. Epub 2017 Oct 26. Am J Hum Genet. 2017. PMID: 29106825 Free PMC article.
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
Polla DL, Bhoj EJ, Verheij JBGM, Wassink-Ruiter JSK, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout ATV, Pfundt R, Bongers EMHF, Hakonarson H, Berland S, Gradek G, Banka S, Chandler K, Gompertz L, Huffels SC, Stumpel CTRM, Wennekes R, Stegmann APA, Reardon W, Leenders EKSM, de Vries BBA, Li D, Zackai E, Ragge N, Lynch SA, Cuddapah S, van Bokhoven H, Zweier C, de Brouwer APM. Polla DL, et al. Genet Med. 2021 Apr;23(4):645-652. doi: 10.1038/s41436-020-01040-6. Epub 2020 Nov 27. Genet Med. 2021. PMID: 33244165 Free article.
Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression.
de Bruijn DR, van Dijk AH, Pfundt R, Hoischen A, Merkx GF, Gradek GA, Lybæk H, Stray-Pedersen A, Brunner HG, Houge G. de Bruijn DR, et al. Among authors: gradek ga. Mol Syndromol. 2010 Feb;1(1):46-57. doi: 10.1159/000280290. Epub 2010 Feb 12. Mol Syndromol. 2010. PMID: 20648246 Free PMC article.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM. Frints SGM, et al. Among authors: gradek ga. Hum Mutat. 2019 Dec;40(12):2270-2285. doi: 10.1002/humu.23841. Epub 2019 Aug 21. Hum Mutat. 2019. PMID: 31206972 Free PMC article.
[Special outpatient clinic for skeletal dysplasias].
Rosendahl K, Houge G, Gradek GA, Berland S, Fevang JM, Berentsen RD, Júlíusson PB. Rosendahl K, et al. Among authors: gradek ga. Tidsskr Nor Laegeforen. 2015 Mar 10;135(5):419-20. doi: 10.4045/tidsskr.14.1022. eCollection 2015 Mar 10. Tidsskr Nor Laegeforen. 2015. PMID: 25761024 Free article. Norwegian. No abstract available.
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA. Alber M, et al. Neurol Genet. 2017 May 26;3(3):e148. doi: 10.1212/NXG.0000000000000148. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28589176 Free PMC article.