Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Author:

Pena Loren D.M.,Jiang Yong-Hui,Schoch Kelly,Spillmann Rebecca C.,Walley Nicole,Stong Nicholas,Rapisardo Horn Sarah,Sullivan Jennifer A.,McConkie-Rosell Allyn,Kansagra Sujay,Smith Edward C.,El-Dairi Mays,Bellet Jane,Keels Martha Ann,Jasien Joan,Kranz Peter G.,Noel Richard,Nagaraj Shashi K.,Lark Robert K.,Wechsler Daniel S.G.,del Gaudio Daniela,Leung Marco L.,Hendon Laura G.,Parker Collette C.,Jones Kelly L.,Goldstein David B.,Shashi Vandana,Alejandro Mercedes E.,Bacino Carlos A.,Balasubramanyam Ashok,Bostwick Bret L.,Burrage Lindsay C.,Chen Shan,Clark Gary D.,Craigen William J.,Dhar Shweta U.,Emrick Lisa T.,Graham Brett H.,Hanchard Neil A.,Jain Mahim,Lalani Seema R.,Lee Brendan H.,Lewis Richard A.,Azamian Mashid S.,Moretti Paolo M.,Nicholas Sarah K.,Orange Jordan S.,Posey Jennifer E.,Potocki Lorraine,Rosenfeld Jill A.,Samson Susan L.,Scott Daryl A.,Tran Alyssa A.,Vogel Tiphanie P.,Zhang Jing,Bellen Hugo J.,Wangler Michael F.,Yamamoto Shinya,Eng Christine M.,Muzny Donna M.,Ward Patricia A.,Yang Yaping,Goldstein David B.,Stong Nicholas,Jiang Yong-hui,McConkie-Rosell Allyn,Pena Loren D.M.,Schoch Kelly,Shashi Vandana,Spillmann Rebecca C.,Sullivan Jennifer A.,Walley Nicole M.,Beggs Alan H.,Briere Lauren C.,Cooper Cynthia M.,Donnell-Fink Laurel A.,Krieg Elizabeth L.,Krier Joel B.,Lincoln Sharyn A.,Loscalzo Joseph,Maas Richard L.,MacRae Calum A.,Pallais J. Carl,Rodan Lance H.,Silverman Edwin K.,Stoler Joan M.,Sweetser David A.,Walsh Chris A.,Esteves Cecilia,Holm Ingrid A.,Kohane Isaac S.,Mazur Paul,McCray Alexa T.,Might Matthew,Ramoni Rachel B.,Splinter Kimberly,Bick David P.,Birch Camille L.,Boone Braden E.,Brown Donna M.,Dorset Daniel C.,Handley Lori H.,Jacob Howard J.,Jones Angela L.,Lazar Jozef,Levy Shawn E.,Newberry J. Scott,Schroeder Molly C.,Strong Kimberly A.,Worthey Elizabeth A.,Dayal Jyoti G.,Eckstein David J.,Gould Sarah E.,Howerton Ellen M.,Krasnewich Donna M.,Mamounas Laura A.,Manolio Teri A.,Mulvihill John J.,Urv Tiina K.,Wise Anastasia L.,Soldatos Ariane G.,Brush Matthew,Gourdine Jean-Philippe F.,Haendel Melissa,Koeller David M.,Kyle Jennifer E.,Metz Thomas O.,Waters Katrina M.,Webb-Robertson Bobbie-Jo M.,Ashley Euan A.,Bernstein Jonathan A.,Dries Annika M.,Fisher Paul G.,Kohler Jennefer N.,Waggott Daryl M.,Wheeler Matthew T.,Zornio Patricia A.,Allard Patrick,Barseghyan Hayk,Dell'Angelica Esteban C.,Dillon Ani,Dipple Katrina M.,Dorrani Naghmeh,Douine Emilie D.,Eskin Ascia,Fogel Brent L.,Herzog Matthew R.,Lee Hane,Lipson Allen,Loo Sandra K.,Martínez-Agosto Julian A.,Nelson Stan F.,Palmer Christina G.S.,Papp Jeanette C.,Parker Neil H.,Sinsheimer Janet S.,Vilain Eric,Zheng Allison,Adams Christopher J.,Burke Elizabeth A.,Chao Katherine R.,Davids Mariska,Draper David D.,Estwick Tyra,Frisby Trevor S.,Frost Kate,Gartner Valerie,Godfrey Rena A.,Goheen Mitchell,Golas Gretchen A.,Gordon Mary G.,Groden Catherine A.,Hackbarth Mary E.,Hardee Isabel,Johnston Jean M.,Koehler Alanna E.,Latham Lea,Latour Yvonne L.,Lau C. Christopher,Levy Denise J.,Liebendorfer Adam P.,Macnamara Ellen F.,Maduro Valerie V.,Markello Thomas C.,McCarty Alexandra J.,Murphy Jennifer L.,Nehrebecky Michele E.,Novacic Donna,Pusey Barbara N.,Sadozai Sarah,Schaffer Katherine E.,Sharma Prashant,Thomas Sara P.,Tolman Nathanial J.,Toro Camilo,Valivullah Zaheer M.,Wahl Colleen E.,Warburton Mike,Weech Alec A.,Yu Guoyun,Gropman Andrea L.,Adams David R.,Gahl William A.,Malicdan May Christine V.,Tifft Cynthia J.,Wolfe Lynne A.,Lee Paul R.,Postlethwait John H.,Westerfield Monte,Bican Anna,Cogan Joy D.,Hamid Rizwan,Newman John H.,Phillips John A.,Robertson Amy K.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference20 articles.

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