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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Authors :
Rebecca C. Spillmann
Queenie K.-G. Tan
Chloe Reuter
Kelly Schoch
Jennefer Kohler
Devon Bonner
Diane Zastrow
Anna Alkelai
Evan Baugh
Heidi Cope
Shruti Marwaha
Matthew T. Wheeler
Jonathan A. Bernstein
Vandana Shashi
Maria T. Acosta
Margaret Adam
David R. Adams
Justin Alvey
Laura Amendola
Ashley Andrews
Euan A. Ashley
Mahshid S. Azamian
Carlos A. Bacino
Guney Bademci
Ashok Balasubramanyam
Dustin Baldridge
Jim Bale
Michael Bamshad
Deborah Barbouth
Pinar Bayrak-Toydemir
Anita Beck
Alan H. Beggs
Edward Behrens
Gill Bejerano
Hugo J. Bellen
Jimmy Bennet
Beverly Berg-Rood
Gerard T. Berry
Anna Bican
Stephanie Bivona
Elizabeth Blue
John Bohnsack
Lorenzo Botto
Brenna Boyd
Lauren C. Briere
Elly Brokamp
Gabrielle Brown
Elizabeth A. Burke
Lindsay C. Burrage
Manish J. Butte
Peter Byers
William E. Byrd
John Carey
Olveen Carrasquillo
Thomas Cassini
Ta Chen Peter Chang
Sirisak Chanprasert
Hsiao-Tuan Chao
Gary D. Clark
Terra R. Coakley
Laurel A. Cobban
Joy D. Cogan
Matthew Coggins
F. Sessions Cole
Heather A. Colley
Cynthia M. Cooper
William J. Craigen
Andrew B. Crouse
Michael Cunningham
Precilla D’Souza
Hongzheng Dai
Surendra Dasari
Joie Davis
Jyoti G. Dayal
Matthew Deardorff
Esteban C. Dell’Angelica
Katrina Dipple
Daniel Doherty
Naghmeh Dorrani
Argenia L. Doss
Emilie D. Douine
Laura Duncan
Dawn Earl
David J. Eckstein
Lisa T. Emrick
Christine M. Eng
Cecilia Esteves
Marni Falk
Liliana Fernandez
Elizabeth L. Fieg
Paul G. Fisher
Brent L. Fogel
Irman Forghani
William A. Gahl
Ian Glass
Bernadette Gochuico
Rena A. Godfrey
Katie Golden-Grant
Madison P. Goldrich
Alana Grajewski
Irma Gutierrez
Don Hadley
Sihoun Hahn
Rizwan Hamid
Kelly Hassey
Nichole Hayes
Frances High
Anne Hing
Fuki M. Hisama
Ingrid A. Holm
Jason Hom
Martha Horike-Pyne
Alden Huang
Yong Huang
Wendy Introne
Rosario Isasi
Kosuke Izumi
Fariha Jamal
Gail P. Jarvik
Jeffrey Jarvik
Suman Jayadev
Orpa Jean-Marie
Vaidehi Jobanputra
Lefkothea Karaviti
Jennifer Kennedy
Shamika Ketkar
Dana Kiley
Gonench Kilich
Shilpa N. Kobren
Isaac S. Kohane
Jennefer N. Kohler
Deborah Krakow
Donna M. Krasnewich
Elijah Kravets
Susan Korrick
Mary Koziura
Seema R. Lalani
Byron Lam
Christina Lam
Grace L. LaMoure
Brendan C. Lanpher
Ian R. Lanza
Kimberly LeBlanc
Brendan H. Lee
Roy Levitt
Richard A. Lewis
Pengfei Liu
Xue Zhong Liu
Nicola Longo
Sandra K. Loo
Joseph Loscalzo
Richard L. Maas
Ellen F. Macnamara
Calum A. MacRae
Valerie V. Maduro
Rachel Mahoney
Bryan C. Mak
May Christine V. Malicdan
Laura A. Mamounas
Teri A. Manolio
Rong Mao
Kenneth Maravilla
Ronit Marom
Gabor Marth
Beth A. Martin
Martin G. Martin
Julian A. Martínez-Agosto
Jacob McCauley
Allyn McConkie-Rosell
Alexa T. McCray
Elisabeth McGee
Heather Mefford
J. Lawrence Merritt
Matthew Might
Ghayda Mirzaa
Eva Morava
Paolo M. Moretti
Mariko Nakano-Okuno
Stan F. Nelson
John H. Newman
Sarah K. Nicholas
Deborah Nickerson
Shirley Nieves-Rodriguez
Donna Novacic
Devin Oglesbee
James P. Orengo
Laura Pace
Stephen Pak
J. Carl Pallais
Christina G.S. Palmer
Jeanette C. Papp
Neil H. Parker
John A. Phillips
Jennifer E. Posey
Lorraine Potocki
Barbara N. Pusey
Aaron Quinlan
Wendy Raskind
Archana N. Raja
Deepak A. Rao
Anna Raper
Genecee Renteria
Chloe M. Reuter
Lynette Rives
Amy K. Robertson
Lance H. Rodan
Jill A. Rosenfeld
Natalie Rosenwasser
Francis Rossignol
Maura Ruzhnikov
Ralph Sacco
Jacinda B. Sampson
Mario Saporta
Judy Schaechter
Timothy Schedl
C. Ron Scott
Daryl A. Scott
Jimann Shin
Edwin K. Silverman
Janet S. Sinsheimer
Kathy Sisco
Edward C. Smith
Kevin S. Smith
Emily Solem
Lilianna Solnica-Krezel
Ben Solomon
Joan M. Stoler
Jennifer A. Sullivan
Kathleen Sullivan
Angela Sun
Shirley Sutton
David A. Sweetser
Virginia Sybert
Holly K. Tabor
Amelia L.M. Tan
Mustafa Tekin
Fred Telischi
Willa Thorson
Cynthia J. Tifft
Camilo Toro
Alyssa A. Tran
Brianna M. Tucker
Tiina K. Urv
Adeline Vanderver
Matt Velinder
Dave Viskochil
Tiphanie P. Vogel
Colleen E. Wahl
Melissa Walker
Stephanie Wallace
Nicole M. Walley
Jennifer Wambach
Jijun Wan
Lee-kai Wang
Michael F. Wangler
Patricia A. Ward
Daniel Wegner
Monika Weisz-Hubshman
Mark Wener
Tara Wenger
Katherine Wesseling Perry
Monte Westerfield
Jordan Whitlock
Lynne A. Wolfe
Kim Worley
Changrui Xiao
Shinya Yamamoto
John Yang
Diane B. Zastrow
Zhe Zhang
Chunli Zhao
Stephan Zuchner
Source :
Genetics in Medicine. 25:100353
Publication Year :
2023
Publisher :
Elsevier BV, 2023.

Subjects

Subjects :
Genetics (clinical)

Details

ISSN :
10983600
Volume :
25
Database :
OpenAIRE
Journal :
Genetics in Medicine
Accession number :
edsair.doi...........77330e85d4df6a9ab0f1157e12295094
Full Text :
https://doi.org/10.1016/j.gim.2022.12.001