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Publications by Stephanie DerOhannessian

Loss-Of-Function Variants in Endothelial Lipase Are a Cause of Elevated HDL Cholesterol in Humans

Journal of Clinical Investigation

English

Related publications

Cholesterol Efflux as a Measure of HDL Functionality in Humans

English

Multiple Loss-Of-Function Variants of Taste Receptors in Modern Humans

Scientific Reports

Multidisciplinary

English

Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome With Impaired Endocytic Function

English

Variants Encoding a Restricted Carboxy-Terminal Domain of SLC12A2 Cause Hereditary Hearing Loss in Humans

Molecular Biology

Cancer Research

English

De Novo ITPR1 Variants Are a Recurrent Cause of Early-Onset Ataxia, Acting via Loss of Channel Function

European Journal of Human Genetics

English

Role of Hepatic Lipase and Endothelial Lipase in High-Density Lipoprotein—Mediated Reverse Cholesterol Transport

Current Atherosclerosis Reports

Cardiovascular Medicine

English

The Expression of Caveolin by HDL in Cholesterol-Loaded Aortic Endothelial Cells

Microscopy and Microanalysis

Instrumentation

English

Variants in Scavenger Receptor Class B Type I Gene Are Associated With HDL Cholesterol Levels in Younger Women

English

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

American Journal of Human Genetics

English