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Publications in Genetics

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

American Journal of Human Genetics

English

Disease and Polygenic Architecture: Avoid Trio Design and Appropriately Account for Unscreened Control Subjects for Common Disease

American Journal of Human Genetics

English

Homeotic Arm-To-Leg Transformation Associated With Genomic Rearrangements at the PITX1 Locus

American Journal of Human Genetics

English

Genetic Variants in LRP1 and ULK4 Are Associated With Acute Aortic Dissections

American Journal of Human Genetics

English

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

American Journal of Human Genetics

English

TIGAR: An Improved Bayesian Tool for Transcriptomic Data Imputation Enhances Gene Mapping of Complex Traits

American Journal of Human Genetics

English

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

American Journal of Human Genetics

English

This Month in Genetics

American Journal of Human Genetics

English

Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63

American Journal of Human Genetics

English

A Dementia-Associated Risk Variant Near TMEM106B Alters Chromatin Architecture and Gene Expression

American Journal of Human Genetics

English