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American Journal of Human Genetics|September 8, 2018
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved PopulationsLaura M Amendola, Jonathan S Berg, Carol R Horowitz, et al.Epilepsia|February 18, 2022
PIGN encephalopathy: Characterizing the epileptologyAllan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.Neuron|November 20, 2018
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsRatna Tripathy, Ines Leca, Tessa van Dijk, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratoriesJulianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2021
Genome sequencing as a first-line diagnostic test for hospitalized infantsKevin M Bowling, Michelle L Thompson, Candice R Finnila, et al.Nature|May 3, 2008
Mapping and sequencing of structural variation from eight human genomesJeffrey M Kidd, Gregory M Cooper, William F Donahue, et al.Brain : a Journal of Neurology|July 22, 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain sizeDiana Le Duc, Cecilia Giulivi, Susan M Hiatt, et al.American Journal of Human Genetics|January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayJustyna A Karolak, Marie Vincent, Gail Deutsch, et al.Pageof 38