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American Journal of Human Genetics|December 31, 2005
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardationDorien Lugtenberg, Helger G Yntema, Martijn J G Banning, et al.
American Journal of Hematology|October 30, 2013
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutationsDean R Campagna, Charlotte I de Bie, Klaus Schmitz-Abe, et al.
American Journal of Medical Genetics. Part A|December 31, 2013
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutationsAdeline Vanderver, Davide Tonduti, Ilana Kahn, et al.
Journal of Medical Genetics|April 27, 2017
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosaThanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, et al.
Epilepsia|December 8, 2018
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disabilityFrancesca M Snoeijen-Schouwenaars, Jans S van Ool, Judith S Verhoeven, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2017
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disordersRolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, et al.
European Journal of Human Genetics : EJHG|June 9, 2017
Genotype and phenotype spectrum of NRAS germline variantsFranziska Altmüller, Christina Lissewski, Debora Bertola, et al.
Human Genetics|December 12, 2018
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairmentJeroen J Smits, Jaap Oostrik, Andy J Beynon, et al.
Nature|June 5, 2014
Genome sequencing identifies major causes of severe intellectual disabilityChristian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, et al.
European Journal of Human Genetics : EJHG|August 1, 2013
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophyArjan P M de Brouwer, Sander B Nabuurs, Ingrid E C Verhaart, et al.
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