European Journal of Medical Genetics · 2023 · 22 citations · 22 references
Life SciencesGeneticsMolecular GeneticsDevelopmental NeuroscienceHuman GeneticsMedical GeneticsGenetic DisordersMendelian Neurological DisordersNeural DevelopmentNeurodevelopmental DisordersNeurodevelopmental GeneticsNeurogenetic DisordersDevelopmental Disorder GenomicsMendelian Neurodevelopmental DisordersNeurodevelopmental Disorder MutationsNeurodevelopmental Genetic SyndromesX-linked Neurodevelopmental Disorders
22
Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.7K citations · Full text
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov, Brian J. O’Roak, Stephan Sanders et al. · Nature · 2014 · 2.8K citations · Full text