A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Does Childhood Trauma Moderate Polygenic Risk for Depression? A Meta-analysis of 5765 Subjects From the Psychiatric Genomics Consortium. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Genetic Association of Major Depression With Atypical Features and Obesity-Related Immunometabolic Dysregulations. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
