Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy

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

A report: the definition and classification of cerebral palsy April 2006

Peter Rosenbaum, Nigel Paneth, Alan Leviton et al. · Developmental Medicine & Child Neurology · 2007 · 4.8K citations

Neurological Disorder, Activity Restriction, Motor Development +18

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver et al. · The American Journal of Human Genetics · 2016 · 2.8K citations · Full text

Genome-wide Association Study, Allelic Variant, Genotype-phenotype Association +14

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

Alexej Abyzov, Alexander E. Urban, M Snyder et al. · Genome Research · 2011 · 1.8K citations · Full text

Moderate Hypothermia to Treat Perinatal Asphyxial Encephalopathy

Denis Azzopardi, Brenda Strohm, A. David Edwards et al. · New England Journal of Medicine · 2009 · 1.7K citations