The Genetic Architecture of Chronic Mountain Sickness in Peru

by Steven Gazal, Steven Gazal, Steven Gazal, Steven Gazal, Jose R. Espinoza, Frédéric Austerlitz, Dominique Marchant, Jose Luis Macarlupu, Jorge Rodriguez, Hugo Ju-Preciado, Maria Rivera-Chira, Olivier Hermine, Olivier Hermine, Fabiola Leon-Velarde, Francisco C. Villafuerte, Jean-Paul Richalet, Jean-Paul Richalet, Laurent Gouya, Laurent Gouya
Published 2019-07-01

Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease

by Samuel S. Kim, Kushal K. Dey, Omer Weissbrod, Carla Márquez-Luna, Steven Gazal, Alkes L. Price
Published 2020-12-01

Functional disease architectures reveal unique biological role of transposable elements

by Farhad Hormozdiari, Bryce van de Geijn, Joseph Nasser, Omer Weissbrod, Steven Gazal, Chelsea J. -T. Ju, Luke O’ Connor, Margaux L. A. Hujoel, Jesse Engreitz, Fereydoun Hormozdiari, Alkes L. Price
Published 2019-09-01

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

by Armin P. Schoech, Daniel M. Jordan, Po-Ru Loh, Steven Gazal, Luke J. O’Connor, Daniel J. Balick, Pier F. Palamara, Hilary K. Finucane, Shamil R. Sunyaev, Alkes L. Price
Published 2019-02-01

A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk

by Hui-Han Hu, Mériem Benfodda, Nicolas Dumaz, Steven Gazal, Vincent Descamps, Agnès Bourillon, Nicole Basset-Seguin, Angélique Riffault, Khaled Ezzedine, Martine Bagot, Armand Bensussan, Philippe Saiag, Bernard Grandchamp, Nadem Soufir
Published 2014-01-01

Population-specific causal disease effect sizes in functionally important regions impacted by selection

by Huwenbo Shi, Steven Gazal, Masahiro Kanai, Evan M. Koch, Armin P. Schoech, Katherine M. Siewert, Samuel S. Kim, Yang Luo, Tiffany Amariuta, Hailiang Huang, Yukinori Okada, Soumya Raychaudhuri, Shamil R. Sunyaev, Alkes L. Price
Published 2021-02-01

The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population.

by Raphael Borie, Bruno Crestani, Philippe Dieude, Hilario Nunes, Yannick Allanore, Caroline Kannengiesser, Paolo Airo, Marco Matucci-Cerinic, Benoit Wallaert, Dominique Israel-Biet, Jacques Cadranel, Vincent Cottin, Steven Gazal, Anna L Peljto, John Varga, David A Schwartz, Dominique Valeyre, Bernard Grandchamp
Published 2013-01-01