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Publications in Genetics

Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

American Journal of Human Genetics

English

Prohibiting Genetic Discrimination to Promote Science, Health, and Fairness

American Journal of Human Genetics

English

Small-Molecule Ligand Docking Into Comparative Models With Rosetta

Nature Protocols

Molecular Biology

English

Integrating Genomics Into Healthcare: A Global Responsibility

American Journal of Human Genetics

English

This Month in the Journal

American Journal of Human Genetics

English

In Remembrance Of: Luigi Luca Cavalli-Sforza (1922–2018)

American Journal of Human Genetics

English

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

American Journal of Human Genetics

English

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture

American Journal of Human Genetics

English

Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

American Journal of Human Genetics

English

Diagnostic Utility of Genome-Wide DNA Methylation Testing in Genetically Unsolved Individuals With Suspected Hereditary Conditions

American Journal of Human Genetics

English