The American Journal of Human Genetics · 2019 · 68 citations · 24 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsEnzyme DeficienciesGenetic DisordersNeurodevelopmental DisordersNeurodevelopmental GeneticsNeurogenetic DisordersPsychiatric GeneticsCongenital Enzyme DefectsDe Novo Nucleotide Synthesis DefectsGenetic Neurodevelopmental SyndromesInherited Metabolic Enzyme DisordersMendelian Neurodevelopmental DisordersNeurodevelopmental Disorder ComorbidityNeurodevelopmental Disorder MutationsRare Genetic Variants
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A general framework for estimating the relative pathogenicity of human genetic variants
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Clinical application of whole-exome sequencing across clinical indications
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