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Breast Cancer Research : BCR|March 2, 2006
Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resourceGraham J Mann, Heather Thorne, Rosemary L Balleine, et al.
Human Molecular Genetics|August 8, 2023
Macrocephaly and developmental delay caused by missense variants in RAB5CKlaas Koop, Weimin Yuan, Federico Tessadori, et al.
American Journal of Human Genetics|January 20, 2007
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorPatrick S Tarpey, F Lucy Raymond, Sarah O'Meara, et al.
American Journal of Human Genetics|August 4, 2015
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingLot Snijders Blok, Erik Madsen, Jane Juusola, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
Nature Communications|October 31, 2019
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Rahel T Florian, Florian Kraft, Elsa Leitão, et al.
Human Mutation|May 3, 2019
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processingMakenzie Saoura, Christopher A Powell, Robert Kopajtich, et al.
Science Translational Medicine|March 2, 2022
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedemaAlicia B Byrne, Pascal Brouillard, Drew L Sutton, et al.
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