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A clinical and genotype-phenotype analysis of MACF1 variants.
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
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.