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3D genome topology distinguishes molecular subgroups of medulloblastoma.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
Response to Hamosh et al.
Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.