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Science Advances|October 4, 2019
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionHui Guo, Ying Li, Lu Shen, et al.
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
Nature Genetics|April 2, 2013
Mutations in DEPDC5 cause familial focal epilepsy with variable fociLeanne M Dibbens, Boukje de Vries, Simona Donatello, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|December 18, 2018
A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 geneLars R Jensen, Lillian Garrett, Sabine M Hölter, et al.
American Journal of Human Genetics|August 2, 2007
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyMichael Field, Patrick S Tarpey, Raffaella Smith, et al.
American Journal of Human Genetics|February 3, 2016
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsMargot R F Reijnders, Vasilios Zachariadis, Brooke Latour, et al.
American Journal of Human Genetics|January 17, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeSarah E Heron, Bronwyn E Grinton, Sara Kivity, et al.
European Journal of Human Genetics : EJHG|December 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal studyClaire Forde, Emma Burkitt-Wright, Peter D Turnpenny, et al.
American Journal of Human Genetics|December 7, 2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeKeith W McLarren, Tesa M Severson, Christèle du Souich, et al.
American Journal of Human Genetics|December 23, 2006
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationPatrick S Tarpey, Claire Stevens, Jon Teague, et al.
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