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Nature|September 28, 2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disordersMari E K Niemi, Hilary C Martin, Daniel L Rice, et al.
American Journal of Human Genetics|September 25, 2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityLingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
Nature Communications|November 21, 2025
Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral PalsyYiran Xu, Chi Ma, Yanyan Sun, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
Nature Neuroscience|June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsMadeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.
American Journal of Medical Genetics|February 13, 2002
Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomaliesElizabeth Baker, Lyn Hinton, David F Callen, et al.
American Journal of Human Genetics|December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen, Marion Amende, Ulf Gurok, et al.
Heart Rhythm|May 10, 2016
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardiaBelinda Gray, Richard D Bagnall, Lien Lam, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
Human disease genes website series: An international, open and dynamic library for up-to-date clinical informationAlexander J M Dingemans, Diante E Stremmelaar, Lisenka E L M Vissers, et al.
Life Science Alliance|January 31, 2023
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performanceMira Brazane, Dilyana G Dimitrova, Julien Pigeon, et al.
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