The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Kumble, S., Levy, A. M., Punetha, J., Gao, H., Ah Mew, N., Anyane‐Yeboa, K., Benke, P. J., Berger, S. M., Bjerglund, L., Campos‐Xavier, B., Ciliberto, M., Cohen, J. S., Comi, A. M., Curry, C., Damaj, L., Denommé‐Pichon, A., Emrick, L., Faivre, L., Fasano, M. B., … Tümer, Z. (2021). The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Human Mutation, 43(2), 266–282. Portico. https://doi.org/10.1002/humu.24308
Authors:
Smitha Kumble
Amanda M. Levy
Jaya Punetha
Hua Gao
Nicholas Ah Mew
Kwame Anyane-Yeboa
Paul J. Benke
Sara M. Berger
Lise Bjerglund
Belinda Campos-Xavier
Michael Ciliberto
Julie S. Cohen
Anne M. Comi
Cynthia Curry
Lena Damaj
Anne-Sophie Denommé-Pichon
Lisa Emrick
Laurence Faivre
Mary Beth Fasano
Alice Fiévet
Richard S. Finkel
Sixto García-Miñaúr
Amanda Gerard
Paulino Gomez-Puertas
Maria J. Guillen Sacoto
Trevor L. Hoffman
Lillian Howard
Alejandro D. Iglesias
Kosuke Izumi
Austin Larson
Anja Leiber
Reymundo Lozano
Iñigo Marcos-Alcalde
Cassie S. Mintz
Sureni V. Mullegama
Rikke S. Møller
Sylvie Odent
Henry Oppermann
Elsebet Ostergaard
Marta Pacio-Míguez
Maria Palomares-Bralo
Sumit Parikh
Anna M. Paulson
Konrad Platzer
Jennifer E. Posey
Lorraine Potocki
Anya Revah-Politi
Marlene Rio
Alyssa L. Ritter
Scott Robinson
Jill A. Rosenfeld
Fernando Santos-Simarro
Sérgio B. Sousa
Mathys Wéber
Yili Xie
Wendy K. Chung
Natasha J. Brown
Zeynep Tümer
Maria T. Acosta
Margaret Adam
David R. Adams
Pankaj B. Agrawal
Mercedes E. Alejandro
Justin Alvey
Laura Amendola
Ashley Andrews
Euan A. Ashley
Mahshid S. Azamian
Carlos A. Bacino
Guney Bademci
Eva Baker
Ashok Balasubramanyam
Dustin Baldridge
Jim Bale
Michael Bamshad
Deborah Barbouth
Pinar Bayrak-Toydemir
Anita Beck
Alan H. Beggs
Edward Behrens
Gill Bejerano
Jimmy Bennet
Beverly Berg-Rood
Jonathan A. Bernstein
Gerard T. Berry
Anna Bican
Stephanie Bivona
Elizabeth Blue
John Bohnsack
Carsten Bonnenmann
Devon Bonner
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
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
Heidi Cope
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
Shweta U. Dhar
Katrina Dipple
Daniel Doherty
Naghmeh Dorrani
Argenia L. Doss
Emilie D. Douine
David D. Draper
Laura Duncan
Dawn Earl
David J. Eckstein
Christine M. Eng
Cecilia Esteves
Marni Falk
Liliana Fernandez
Carlos Ferreira
Elizabeth L. Fieg
Laurie C. Findley
Paul G. Fisher
Brent L. Fogel
Irman Forghani
Laure Fresard
William A. Gahl
Ian Glass
Bernadette Gochuico
Rena A. Godfrey
Katie Golden-Grant
Alica M. Goldman
Madison P. Goldrich
David B. Goldstein
Alana Grajewski
Catherine A. Groden
Irma Gutierrez
Sihoun Hahn
Rizwan Hamid
Neil A. Hanchard
Kelly Hassey
Nichole Hayes
Frances High
Anne Hing
Fuki M. Hisama
Ingrid A. Holm
Jason Hom
Martha Horike-Pyne
Alden Huang
Yong Huang
Laryssa Huryn
Rosario Isasi
Fariha Jamal
Gail P. Jarvik
Jeffrey Jarvik
Suman Jayadev
Lefkothea Karaviti
Jennifer Kennedy
Dana Kiley
Shilpa N. Kobren
Isaac S. Kohane
Jennefer N. Kohler
Deborah Krakow
Donna M. Krasnewich
Elijah Kravets
Susan Korrick
Mary Koziura
Joel B. Krier
Seema R. Lalani
Byron Lam
Christina Lam
Grace L. LaMoure
Brendan C. Lanpher
Ian R. Lanza
Lea Latham
Kimberly LeBlanc
Brendan H. Lee
Hane Lee
Roy Levitt
Richard A. Lewis
Sharyn A. Lincoln
Pengfei Liu
Xue Zhong Liu
Nicola Longo
Sandra K. Loo
Joseph Loscalzo
Richard L. Maas
John MacDowall
Ellen F. Macnamara
Calum A. MacRae
Valerie V. Maduro
Marta M. Majcherska
Bryan C. Mak
May Christine V. Malicdan
Laura A. Mamounas
Teri A. Manolio
Rong Mao
Kenneth Maravilla
Thomas C. Markello
Ronit Marom
Gabor Marth
Beth A. Martin
Martin G. Martin
Julian A. Martínez-Agosto
Shruti Marwaha
Jacob McCauley
Allyn McConkie-Rosell
Colleen E. McCormack
Alexa T. McCray
Elisabeth McGee
Heather Mefford
J. Lawrence Merritt
Matthew Might
Ghayda Mirzaa
Eva Morava
Paolo M. Moretti
Deborah Mosbrook-Davis
John J. Mulvihill
David R. Murdock
Anna Nagy
Mariko Nakano-Okuno
Avi Nath
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 GS. Palmer
Jeanette C. Papp
Neil H. Parker
John A. Phillips
Bradley Power
Barbara N. Pusey
Aaron Quinlan
Wendy Raskind
Archana N. Raja
Deepak A. Rao
Genecee Renteria
Chloe M. Reuter
Lynette Rives
Amy K. Robertson
Lance H. Rodan
Natalie Rosenwasser
Francis Rossignol
Maura Ruzhnikov
Ralph Sacco
Jacinda B. Sampson
Susan L. Samson
Mario Saporta
C. Ron Scott
Judy Schaechter
Timothy Schedl
Kelly Schoch
Daryl A. Scott
Vandana Shashi
Jimann Shin
Rebecca Signer
Edwin K. Silverman
Janet S. Sinsheimer
Kathy Sisco
Edward C. Smith
Kevin S. Smith
Emily Solem
Lilianna Solnica-Krezel
Ben Solomon
Rebecca C. Spillmann
Joan M. Stoler
Jennifer A. Sullivan
Kathleen Sullivan
Angela Sun
Shirley Sutton
David A. Sweetser
Virginia Sybert
Holly K. Tabor
Amelia L. M. Tan
Queenie K.-G. Tan
Mustafa Tekin
Fred Telischi
Willa Thorson
Audrey Thurm
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
Stephanie Wallace
Nicole M. Walley
Chris A. Walsh
Melissa Walker
Jennifer Wambach
Jijun Wan
Lee-kai Wang
Michael F. Wangler
Patricia A. Ward
Daniel Wegner
Mark Wener
Tara Wenger
Katherine Wesseling Perry
Monte Westerfield
Matthew T. Wheeler
Jordan Whitlock
Lynne A. Wolfe
Jeremy D. Woods
Shinya Yamamoto
John Yang
Muhammad Yousef
Diane B. Zastrow
Wadih Zein
Chunli Zhao
Stephan Zuchner
Affiliated Authors:
Kwame Anyane-Yeboa
Sara M. Berger
Alejandro D. Iglesias
Anya Revah-Politi
Scott Robinson
Wendy K. Chung
Author Keywords:
hypotonia
intellectual disability
qrich1
short stature
variable expressivity
variant
Publication Type:
Article
Unique ID:
10.1002/humu.24308
PMID:
Journal:
Publication Date:
Data Source:
Scopus

Record Created: