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Publications in Genetics

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy P415

American Journal of Human Genetics

English

Inferring Relevant Cell Types for Complex Traits by Using Single-Cell Gene Expression

American Journal of Human Genetics

English

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

American Journal of Human Genetics

English

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

American Journal of Human Genetics

English

Generating High-Purity Cardiac and Endothelial Derivatives From Patterned Mesoderm Using Human Pluripotent Stem Cells

Nature Protocols

Molecular Biology

English

Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies

American Journal of Human Genetics

English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics

English

Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

This Month in the Journal

American Journal of Human Genetics

English

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms

American Journal of Human Genetics

English