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Publications in Genetics

Deleterious Variation in BRSK2 Associates With a Neurodevelopmental Disorder

American Journal of Human Genetics

English

Basic Statistical Analysis in Genetic Case-Control Studies

Nature Protocols

Molecular Biology

English

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

American Journal of Human Genetics

English

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English

This Month in the Journal

American Journal of Human Genetics

English

TBC1D8B Loss-Of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

American Journal of Human Genetics

English

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

American Journal of Human Genetics

English

Screening and Large-Scale Expression of Membrane Proteins in Mammalian Cells for Structural Studies

Nature Protocols

Molecular Biology

English

Public Discussion Affects Question Asking at Academic Conferences

American Journal of Human Genetics

English

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

American Journal of Human Genetics

English