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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Among authors: chen w. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
Chen W, Ullmann R, Langnick C, Menzel C, Wotschofsky Z, Hu H, Döring A, Hu Y, Kang H, Tzschach A, Hoeltzenbein M, Neitzel H, Markus S, Wiedersberg E, Kistner G, van Ravenswaaij-Arts CM, Kleefstra T, Kalscheuer VM, Ropers HH. Chen W, et al. Eur J Hum Genet. 2010 May;18(5):539-43. doi: 10.1038/ejhg.2009.211. Epub 2009 Dec 2. Eur J Hum Genet. 2010. PMID: 19953122 Free PMC article.
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
von Bernuth H, Ravindran E, Du H, Fröhler S, Strehl K, Krämer N, Issa-Jahns L, Amulic B, Ninnemann O, Xiao MS, Eirich K, Kölsch U, Hauptmann K, John R, Schindler D, Wahn V, Chen W, Kaindl AM. von Bernuth H, et al. Among authors: chen w. Orphanet J Rare Dis. 2014 Oct 21;9:116. doi: 10.1186/s13023-014-0116-6. Orphanet J Rare Dis. 2014. PMID: 25330735 Free PMC article.
Genetic causes of MCPH in consanguineous Pakistani families.
Kraemer N, Picker-Minh S, Abbasi AA, Fröhler S, Ninnemann O, Khan MN, Ali G, Chen W, Kaindl AM. Kraemer N, et al. Among authors: chen w. Clin Genet. 2016 Jun;89(6):744-5. doi: 10.1111/cge.12685. Epub 2015 Nov 8. Clin Genet. 2016. PMID: 26548919 No abstract available.
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