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NPJ Genomic Medicine|January 29, 2022
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.The Journal of Biological Chemistry|May 18, 2018
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signalingNithya Selvan, Stephan George, Fatema J Serajee, et al.Human Molecular Genetics|March 6, 2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brainLachlan A Jolly, Lam Son Nguyen, Deepti Domingo, et al.Neuron|January 5, 2018
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 EpilepsyDaniel T Pederick, Kay L Richards, Sandra G Piltz, et al.American Journal of Medical Genetics. Part A|November 12, 2013
FOXP1 mutations cause intellectual disability and a recognizable phenotypeAnna K Le Fevre, Sharelle Taylor, Neva H Malek, et al.Human Molecular Genetics|October 19, 2018
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylationWujood Khayat, Anna Hackett, Marie Shaw, et al.Journal of Genetic Counseling|July 23, 2016
Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South AustraliaKate E Riley, Hayley Salvemini, Eric Haan, et al.Epilepsia Open|January 14, 2025
PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicismAntonio Gambardella, Yu-Chi Liu, Mark F Bennett, et al.American Journal of Medical Genetics. Part A|August 3, 2016
Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fracturesApril Crawford, Lynette Moore, Gregory Bennett, et al.European Journal of Human Genetics : EJHG|February 22, 2020
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferaseVeronica M Pravata, Michaela Omelková, Marios P Stavridis, et al.Pageof 29