Emma Pierce-Hoffman

Emma Pierce-Hoffman

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Emma Pierce-Hoffman

Emma Pierce-Hoffman

Publications by authors named "Emma Pierce-Hoffman"

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ASC1 is a cell cycle regulator associated with severe and mild forms of myopathy.

Authors:
Rocío N Villar-Quiles Fabio Catervi Eva Cabet Raul Juntas-Morales Casie A Genetti Teresa Gidaro Asuman Koparir Adnan Yüksel Sandra Coppens Nicolas Deconinck Emma Pierce-Hoffman Xavière Lornage Julien Durigneux Jocelyn Laporte John Rendu Norma B Romero Alan H Beggs Laurent Servais Mireille Cossée Montse Olivé Johann Böhm Isabelle Duband-Goulet Ana Ferreiro

Ann Neurol 2019 Dec 3. Epub 2019 Dec 3.

Basic and Translational Myology Laboratory, UMR8251, Université de Paris/CNRS, Paris, France.

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http://dx.doi.org/10.1002/ana.25660DOI Listing
December 2019

Analysis of protein-coding genetic variation in 60,706 humans.

Authors:
Monkol Lek Konrad J Karczewski Eric V Minikel Kaitlin E Samocha Eric Banks Timothy Fennell Anne H O'Donnell-Luria James S Ware Andrew J Hill Beryl B Cummings Taru Tukiainen Daniel P Birnbaum Jack A Kosmicki Laramie E Duncan Karol Estrada Fengmei Zhao James Zou Emma Pierce-Hoffman Joanne Berghout David N Cooper Nicole Deflaux Mark DePristo Ron Do Jason Flannick Menachem Fromer Laura Gauthier Jackie Goldstein Namrata Gupta Daniel Howrigan Adam Kiezun Mitja I Kurki Ami Levy Moonshine Pradeep Natarajan Lorena Orozco Gina M Peloso Ryan Poplin Manuel A Rivas Valentin Ruano-Rubio Samuel A Rose Douglas M Ruderfer Khalid Shakir Peter D Stenson Christine Stevens Brett P Thomas Grace Tiao Maria T Tusie-Luna Ben Weisburd Hong-Hee Won Dongmei Yu David M Altshuler Diego Ardissino Michael Boehnke John Danesh Stacey Donnelly Roberto Elosua Jose C Florez Stacey B Gabriel Gad Getz Stephen J Glatt Christina M Hultman Sekar Kathiresan Markku Laakso Steven McCarroll Mark I McCarthy Dermot McGovern Ruth McPherson Benjamin M Neale Aarno Palotie Shaun M Purcell Danish Saleheen Jeremiah M Scharf Pamela Sklar Patrick F Sullivan Jaakko Tuomilehto Ming T Tsuang Hugh C Watkins James G Wilson Mark J Daly Daniel G MacArthur

Nature 2016 08;536(7616):285-91

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://www.nature.com/articles/nature19057
Publisher Site
http://dx.doi.org/10.1038/nature19057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018207PMC
August 2016