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Publications in Genetics

Extending Rare-Variant Testing Strategies: Analysis of Noncoding Sequence and Imputed Genotypes

American Journal of Human Genetics

English

Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis

American Journal of Human Genetics

English

This Month in Genetics

American Journal of Human Genetics

English

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

American Journal of Human Genetics

English

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

American Journal of Human Genetics

English

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

American Journal of Human Genetics

English

Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

American Journal of Human Genetics

English

2017 William Allan Award Introduction: Kári Stefansson 1

American Journal of Human Genetics

English

Microfluidic Single-Cell Real-Time PCR for Comparative Analysis of Gene Expression Patterns

Nature Protocols

Molecular Biology

English

Systematic Prediction of Gene Function in Arabidopsis Thaliana Using a Probabilistic Functional Gene Network

Nature Protocols

Molecular Biology

English