Publications by authors named "Emma Pierce-Hoffman"

4Publications

The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors:
Konrad J Karczewski Laurent C Francioli Grace Tiao Beryl B Cummings Jessica Alföldi Qingbo Wang Ryan L Collins Kristen M Laricchia Andrea Ganna Daniel P Birnbaum Laura D Gauthier Harrison Brand Matthew Solomonson Nicholas A Watts Daniel Rhodes Moriel Singer-Berk Eleina M England Eleanor G Seaby Jack A Kosmicki Raymond K Walters Katherine Tashman Yossi Farjoun Eric Banks Timothy Poterba Arcturus Wang Cotton Seed Nicola Whiffin Jessica X Chong Kaitlin E Samocha Emma Pierce-Hoffman Zachary Zappala Anne H O'Donnell-Luria Eric Vallabh Minikel Ben Weisburd Monkol Lek James S Ware Christopher Vittal Irina M Armean Louis Bergelson Kristian Cibulskis Kristen M Connolly Miguel Covarrubias Stacey Donnelly Steven Ferriera Stacey Gabriel Jeff Gentry Namrata Gupta Thibault Jeandet Diane Kaplan Christopher Llanwarne Ruchi Munshi Sam Novod Nikelle Petrillo David Roazen Valentin Ruano-Rubio Andrea Saltzman Molly Schleicher Jose Soto Kathleen Tibbetts Charlotte Tolonen Gordon Wade Michael E Talkowski Benjamin M Neale Mark J Daly Daniel G MacArthur

Nature 2020 05 27;581(7809):434-443. Epub 2020 May 27.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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http://dx.doi.org/10.1038/s41586-020-2308-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7334197PMC
May 2020

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.

Authors:
Qingbo Wang Emma Pierce-Hoffman Beryl B Cummings Jessica Alföldi Laurent C Francioli Laura D Gauthier Andrew J Hill Anne H O'Donnell-Luria Konrad J Karczewski Daniel G MacArthur

Nat Commun 2020 05 27;11(1):2539. Epub 2020 May 27.

Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.

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http://dx.doi.org/10.1038/s41467-019-12438-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253413PMC
May 2020

ASC-1 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 2020 02 27;87(2):217-232. Epub 2019 Dec 27.

Basic and Translational Myology Laboratory, UMR8251, University of Paris/National Center for Scientific Research, Paris, France.

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http://dx.doi.org/10.1002/ana.25660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6980348PMC
February 2020

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