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Publications in Genetics

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

American Journal of Human Genetics

English

2012 William Allan Award: Adventures in Cytogenetics1

American Journal of Human Genetics

English

Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes With Seven Metabolic Traits

American Journal of Human Genetics

English

Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus With Cataract

American Journal of Human Genetics

English

Effective Genetic-Risk Prediction Using Mixed Models

American Journal of Human Genetics

English

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

American Journal of Human Genetics

English

Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot

American Journal of Human Genetics

English

A CpG Mutational Hotspot in a ONECUT Binding Site Accounts for the Prevalent Variant of Hemophilia B Leyden

American Journal of Human Genetics

English

Trans-Ethnic Meta-Analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin

American Journal of Human Genetics

English

Quantifying the Transcriptional Output of Single Alleles in Single Living Mammalian Cells

Nature Protocols

Molecular Biology

English