Increased diagnostic yield in complex dystonia through exome sequencing

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

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Karine Poirier, Nicolas Lebrun, Loïc Broix et al. · Nature Genetics · 2013 · 488 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +9

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

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Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

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Epileptic Encephalopathy, Gnao1 Variants, Neurological Disorder +9

Neurodevelopmental Disorders Caused by De Novo Variants in <i>KCNB1 </i>Genotypes and Phenotypes

Carolien G. F. de Kovel, Steffen Syrbe, Eva H. Brilstra et al. · JAMA Neurology · 2017 · 103 citations · Full text