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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

  • Read more about Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

3D genome topology distinguishes molecular subgroups of medulloblastoma.

  • Read more about 3D genome topology distinguishes molecular subgroups of medulloblastoma.

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

  • Read more about 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.

  • Read more about 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.

  • Read more about De novo variants in DENND5B cause a neurodevelopmental disorder.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

  • Read more about 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.

  • Read more about 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.

  • Read more about A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.

Response to Hamosh et al.

  • Read more about Response to Hamosh et al.

Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression.

  • Read more about Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression.

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