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Neuron|May 5, 2017
De Novo Coding Variants Are Strongly Associated with Tourette DisorderA Jeremy Willsey, Thomas V Fernandez, Dongmei Yu, et al.Nature Genetics|December 6, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.Nature Genetics|March 22, 2016
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general populationElise B Robinson, Beate St Pourcain, Verneri Anttila, et al.Nature|November 20, 2024
Examining the role of common variants in rare neurodevelopmental conditionsQin Qin Huang, Emilie M Wigdor, Daniel S Malawsky, et al.Proceedings of the National Academy of Sciences of the United States of America|October 7, 2015
A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signalingHeide Christine Patterson, Carolin Gerbeth, Prathapan Thiru, et al.The New England Journal of Medicine|April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and IrelandCaroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.Nature Neuroscience|January 15, 2020
Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutationsDaniel P Howrigan, Samuel A Rose, Kaitlin E Samocha, et al.Nature Genetics|May 16, 2017
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disordersDaniel J Weiner, Emilie M Wigdor, Stephan Ripke, et al.Nature Genetics|August 4, 2014
A framework for the interpretation of de novo mutation in human diseaseKaitlin E Samocha, Elise B Robinson, Stephan J Sanders, et al.Genome Medicine|March 19, 2020
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disordersDennis Lal, Patrick May, Eduardo Perez-Palma, et al.Pageof 6