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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.
Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.
Plos One|March 8, 2014
Detection of chromosomal breakpoints in patients with developmental delay and speech disordersKagistia H Utami, Axel M Hillmer, Irene Aksoy, et al.
Brain : a Journal of Neurology|December 4, 2019
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disabilityNicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendationsEric Lee, Trang Le, Ying Zhu, et al.
The New England Journal of Medicine|August 10, 2017
NAD Deficiency, Congenital Malformations, and Niacin SupplementationHongjun Shi, Annabelle Enriquez, Melissa Rapadas, et al.
Human Mutation|September 17, 2013
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformationNicole Revencu, Laurence M Boon, Antonella Mendola, et al.
The Journal of Clinical Endocrinology and Metabolism|December 14, 2011
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyNils Krone, Nicole Reisch, Jan Idkowiak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
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