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American Journal of Human Genetics|May 10, 2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaMark A Corbett, Michael Schwake, Melanie Bahlo, et al.
Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.
Human Mutation|April 13, 2021
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disabilityMichael J Field, Raman Kumar, Anna Hackett, et al.
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.
Molecular Biology of the Cell|October 31, 2014
COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7AChristine A Phillips-Krawczak, Amika Singla, Petro Starokadomskyy, et al.
Human Mutation|June 3, 2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variantsDuyen H Pham, Melissa R Pitman, Raman Kumar, et al.
Genes|August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous DisorderThuong T Ha, Rosemary Burgess, Morgan Newman, et al.
American Journal of Human Genetics|July 27, 2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disabilityAnnabel C Whibley, Vincent Plagnol, Patrick S Tarpey, et al.
Genome Research|March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansionsBart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2025
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorderJung-Wan Mok, Laura Mackay, Maria Blazo, et al.
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