Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

Medicine, Genetics, Molecular Genetics +14

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

C Shaw-Smith · Journal of Medical Genetics · 2004 · 510 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

Katherine L. Helbig, Kelly D. Farwell Hagman, Deepali N. Shinde et al. · Genetics in Medicine · 2016 · 360 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Purα Is Essential for Postnatal Brain Development and Developmentally Coupled Cellular Proliferation As Revealed by Genetic Inactivation in the Mouse

Kamel Khalili, Luis Del Valle, Vandhana Muralidharan-Chari et al. · Molecular and Cellular Biology · 2003 · 193 citations · Full text

Life Sciences, Developmental Biology, Neuroscience +9

Valproic acid embryopathy: Report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature

Chahira Kozma · American Journal of Medical Genetics · 2001 · 186 citations

Medicine, Developmental Biology, Pediatrics +10