Diagnostic Utility of Genome-wide DNA Methylation Screening to Identify Molecular Causes of Genetically Unsolved Developmental and Epileptic Encephalopathies
Relative contribution of variant prioritization and phenotype similarity to performance of automatic genome analysis algorithms
Expanding the range of WNT signaling syndromes: a promoter variant in WNT9B is a candidate in a case with Femoral Facial syndrome.
Making the call: Trends among successful strategies to conclude the diagnostic odyssey for participants at the Pacific Northwest Undiagnosed Diseases Network clinical site.
Genomic analyses of 281 consanguineous kindreds from the Middle East and North Africa facilitate the discovery of novel recessive neurodevelopmental rare disease traits
Clinical exome sequencing efficacy and phenotypic expansions in Congenital Anomalies of Kidney and Urinary Tract (CAKUT)
Unraveling the Intrafamilial Phenotypic Variability in Sibling Pairs with Neurodevelopmental Diseases
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