GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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Allelic Variant, Sequence Variants, Medicine +11

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 1.9K citations · Full text

De novo mutations in epileptic encephalopathies

Nature · 2013 · 1.5K citations · Full text

Genetic Disorder, Genetics, Neuroscience +5

De Novo Mutations in Moderate or Severe Intellectual Disability

Fadi F. Hamdan, Myriam Srour, José‐Mario Capo‐Chichi et al. · PLoS Genetics · 2014 · 411 citations · Full text

Genetic Diseases, Mendelian Disorder, Genetic Disorder +13

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

The American Journal of Human Genetics · 2016 · 299 citations · Full text

Neurobiology Of Disease, Genetic Disorder, Genetics +10