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Plos Genetics|April 26, 2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, et al.
Advances in Experimental Medicine and Biology|August 28, 2020
PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic SpectrumKristy L Kolc, Rikke S Møller, Lynette G Sadleir, et al.
Journal of Molecular Biology|June 29, 2026
UPF3A and UPF3B shape the transcriptome cooperatively yet oppose cell functionUrwah Nawaz, Emmylou Nicolas-Martinez, Saba Montazaribarforoushi, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restrictionRenée Carroll, Raman Kumar, Marie Shaw, et al.
European Journal of Human Genetics : EJHG|September 10, 2009
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)Tod Fullston, Louise Brueton, Tracey Willis, et al.
BMC Medical Genetics|September 4, 2004
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationChristiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, et al.
Plos One|July 18, 2013
Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesisShane Stegeman, Lachlan A Jolly, Susitha Premarathne, et al.
Clinical Genetics|November 10, 2019
X-linked intellectual disability: Phenotypic expression in carrier femalesCatherine A Ziats, Charles E Schwartz, Jozef Gecz, et al.
Clinical Endocrinology|May 6, 2016
Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidismJames N Hughes, Matthew Aubert, Jessica Heatlie, et al.
Molecular Psychiatry|June 13, 2018
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severityKristy L Kolc, Lynette G Sadleir, Ingrid E Scheffer, et al.
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