All papers authored by Heidi Rehm
Refreshing results…
2023
Petko P. Fiziev 
,
Jeremy McRae ,
Jacob C. Ulirsch ,
Jacqueline S. Dron ,
Tobias Hamp,
Yanshen Yang,
Pierrick Wainschtein ,
Zijian Ni ,
Joshua G. Schraiber,
Hong Gao ,
Dylan Cable,
Yair Field ,
Francois Aguet ,
Marc Fasnacht,
Ahmed Metwally
and 6 other authors
,
Jeremy McRae ,
Jacob C. Ulirsch ,
Jacqueline S. Dron ,
Tobias Hamp,
Yanshen Yang,
Pierrick Wainschtein ,
Zijian Ni ,
Joshua G. Schraiber,
Hong Gao ,
Dylan Cable,
Yair Field ,
Francois Aguet ,
Marc Fasnacht,
Ahmed Metwally
and 6 other authors
Rare penetrant mutations confer severe risk of common diseases
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Hong Gao ,
Tobias Hamp,
Jeffrey Ede,
Joshua G. Schraiber,
Jeremy McRae ,
Moriel Singer-Berk ,
Yanshen Yang,
Anastasia S. D. Dietrich ,
Petko P. Fiziev ,
Lukas F. K. Kuderna ,
Laksshman Sundaram ,
Yibing Wu,
Aashish Adhikari ,
Yair Field ,
Chen Chen
and 87 other authors
,
Tobias Hamp,
Jeffrey Ede,
Joshua G. Schraiber,
Jeremy McRae ,
Moriel Singer-Berk ,
Yanshen Yang,
Anastasia S. D. Dietrich ,
Petko P. Fiziev ,
Lukas F. K. Kuderna ,
Laksshman Sundaram ,
Yibing Wu,
Aashish Adhikari ,
Yair Field ,
Chen Chen
and 87 other authors
The landscape of tolerated genetic variation in humans and primates
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2022
Marina T. DiStefano ,
Annie Olry,
Arina Puzriakova,
Kelly Radtke,
Erin M. Ramos,
Ana Rath,
Erin Rooney Riggs,
Angharad M. Roberts,
Charlotte Rodwell,
Catherine Snow,
Zornitza Stark,
Jackie Tahiliani,
Susan Tweedie,
James S. Ware,
Phillip Weller
and 37 other authors
,
Annie Olry,
Arina Puzriakova,
Kelly Radtke,
Erin M. Ramos,
Ana Rath,
Erin Rooney Riggs,
Angharad M. Roberts,
Charlotte Rodwell,
Catherine Snow,
Zornitza Stark,
Jackie Tahiliani,
Susan Tweedie,
James S. Ware,
Phillip Weller
and 37 other authors
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
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Samantha M. Baxter ,
Jennifer E. Posey ,
Nicole J. Lake,
Nara Sobreira,
Jessica X. Chong ,
Steven Buyske ,
Elizabeth E. Blue ,
Lisa H. Chadwick,
Zeynep H. Coban-Akdemir ,
Kimberly F. Doheny ,
Colleen P. Davis,
Monkol Lek,
Christopher Wellington,
Shalini N. Jhangiani,
Mark Gerstein
and 227 other authors
,
Jennifer E. Posey ,
Nicole J. Lake,
Nara Sobreira,
Jessica X. Chong ,
Steven Buyske ,
Elizabeth E. Blue ,
Lisa H. Chadwick,
Zeynep H. Coban-Akdemir ,
Kimberly F. Doheny ,
Colleen P. Davis,
Monkol Lek,
Christopher Wellington,
Shalini N. Jhangiani,
Mark Gerstein
and 227 other authors
Centers for Mendelian Genomics: A decade of facilitating gene discovery
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2021
Heidi L. Rehm ,
Angela J. H. Page ,
Lindsay Smith ,
Jeremy B. Adams ,
Gil Alterovitz,
Lawrence J. Babb ,
Maxmillian P. Barkley,
Michael Baudis ,
Michael J. S. Beauvais ,
Tim Beck ,
Jacques S. Beckmann ,
Sergi Beltran ,
David Bernick,
Alexander Bernier,
James K. Bonfield
and 187 other authors
,
Angela J. H. Page ,
Lindsay Smith ,
Jeremy B. Adams ,
Gil Alterovitz,
Lawrence J. Babb ,
Maxmillian P. Barkley,
Michael Baudis ,
Michael J. S. Beauvais ,
Tim Beck ,
Jacques S. Beckmann ,
Sergi Beltran ,
David Bernick,
Alexander Bernier,
James K. Bonfield
and 187 other authors
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Download from doi.org
Henrike O. Heyne ,
Heyne Ho,
Weber Yg,
Mykyta Artomov ,
Florian Battke ,
Claudia Bianchini ,
Smith Dr,
Douglas R. Smith ,
Nora Liebmann,
Vasisht Tadigotla,
Stanley Cm,
Christine M. Stanley,
Dennis Lal,
Heidi Rehm ,
Holger Lerche
and 7 other authors
,
Heyne Ho,
Weber Yg,
Mykyta Artomov ,
Florian Battke ,
Claudia Bianchini ,
Smith Dr,
Douglas R. Smith ,
Nora Liebmann,
Vasisht Tadigotla,
Stanley Cm,
Christine M. Stanley,
Dennis Lal,
Heidi Rehm ,
Holger Lerche
and 7 other authors
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
Download from www.nature.com
2018
Edgar A. Rivera‐Muñoz ,
Laura V. Milko ,
Steven M. Harrison ,
Danielle R. Azzariti,
C. Lisa Kurtz,
Kristy Lee,
Jessica L. Mester ,
Meredith A. Weaver,
Erin Currey,
William Craigen,
Charis Eng ,
Birgit Funke,
Madhuri Hegde ,
Ray E. Hershberger,
Rong Mao
and 8 other authors
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,
Laura V. Milko ,
Steven M. Harrison ,
Danielle R. Azzariti,
C. Lisa Kurtz,
Kristy Lee,
Jessica L. Mester ,
Meredith A. Weaver,
Erin Currey,
William Craigen,
Charis Eng ,
Birgit Funke,
Madhuri Hegde ,
Ray E. Hershberger,
Rong Mao
and 8 other authors
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Harindra Arachchi,
Monica H. Wojcik ,
Benjamin Weisburd,
Julius O. B. Jacobsen,
Elise Valkanas,
Samantha Baxter,
Alicia B. Byrne ,
Anne H. O'Donnell-Luria,
Melissa Haendel,
Damian Smedley,
Daniel G. MacArthur,
Anthony A. Philippakis,
Heidi L. Rehm
,
Benjamin Weisburd,
Julius O. B. Jacobsen,
Elise Valkanas,
Samantha Baxter,
Alicia B. Byrne ,
Anne H. O'Donnell-Luria,
Melissa Haendel,
Damian Smedley,
Daniel G. MacArthur,
Anthony A. Philippakis,
Heidi L. Rehm
matchbox: An open-source tool for patient matching via the Matchmaker Exchange
Download from api.wiley.com
2017
Natasha T. Strande ,
Erin Rooney Riggs,
Adam H. Buchanan ,
Ozge Ceyhan-Birsoy ,
Marina T. DiStefano ,
Selina S. Dwight ,
Jennifer L. Goldstein,
Rajarshi Ghosh ,
Bryce A. Seifert,
Tam P. Sneddon ,
Matt W. Wright ,
Laura V. Milko,
J. Michael Cherry ,
J. Michael Cherry,
Monica A. Giovanni
and 9 other authors
Download from europepmc.org
,
Erin Rooney Riggs,
Adam H. Buchanan ,
Ozge Ceyhan-Birsoy ,
Marina T. DiStefano ,
Selina S. Dwight ,
Jennifer L. Goldstein,
Rajarshi Ghosh ,
Bryce A. Seifert,
Tam P. Sneddon ,
Matt W. Wright ,
Laura V. Milko,
J. Michael Cherry ,
J. Michael Cherry,
Monica A. Giovanni
and 9 other authors
Download from europepmc.org
2016
Julianne M. O’Daniel ,
Heather M. McLaughlin,
Laura M. Amendola ,
Sherri J. Bale,
Jonathan S. Berg ,
David Bick ,
Kevin M. Bowling,
Elizabeth C. Chao,
Wendy K. Chung ,
Laura K. Conlin ,
Gregory M. Cooper,
Soma Das,
Joshua L. Deignan ,
Michael O. Dorschner,
James P. Evans
and 23 other authors
Download from www.nature.com
,
Heather M. McLaughlin,
Laura M. Amendola ,
Sherri J. Bale,
Jonathan S. Berg ,
David Bick ,
Kevin M. Bowling,
Elizabeth C. Chao,
Wendy K. Chung ,
Laura K. Conlin ,
Gregory M. Cooper,
Soma Das,
Joshua L. Deignan ,
Michael O. Dorschner,
James P. Evans
and 23 other authors
Download from www.nature.com
Kelly E. Caudle ,
Henry M. Dunnenberger ,
Robert R. Freimuth,
Josh F. Peterson,
Jonathan D. Burlison,
Michelle Whirl-Carrillo ,
Stuart A. Scott ,
Heidi L. Rehm ,
Marc S. Williams,
Teri E. Klein ,
Mary V. Relling,
James M. Hoffman
Download from www.nature.com
,
Henry M. Dunnenberger ,
Robert R. Freimuth,
Josh F. Peterson,
Jonathan D. Burlison,
Michelle Whirl-Carrillo ,
Stuart A. Scott ,
Heidi L. Rehm ,
Marc S. Williams,
Teri E. Klein ,
Mary V. Relling,
James M. Hoffman
Download from www.nature.com
2015
Sue Richards,
Nazneen Aziz,
Sherri Bale,
David Bick,
Soma Das,
Julie Gastier-Foster,
Wayne W. Grody,
Madhuri Hegde,
Elaine Lyon,
Elaine Spector,
Karl Voelkerding,
Heidi L. Rehm
Download from www.nature.com
Download from www.nature.com
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