De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Weisz-Hubshman, M., Burrage, L. C., Jangam, S. V., Rosenfeld, J. A., von Hardenberg, S., Bergmann, A., Richter, M. F., Rydzanicz, M., Ploski, R., Stembalska, A., Chung, W. K., Hernan, R. R., Lim, F. Y., Brunet, T., Syrbe, S., Keren, B., Heide, S., Murdock, D. R., Dai, H., … Lee, B. (2025). De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genetics in Medicine, 27(4), 101369. https://doi.org/10.1016/j.gim.2025.101369
Authors:
Monika Weisz-Hubshman
Lindsay C. Burrage
Sharayu V. Jangam
Jill A. Rosenfeld
Sandra von Hardenberg
Anke Bergmann
Manuela Friederike Richter
Malgorzata Rydzanicz
Rafal Ploski
Agnieszka Stembalska
Wendy K. Chung
Rebecca R. Hernan
Foong Y. Lim
Theresa Brunet
Steffen Syrbe
Boris Keren
Solveig Heide
David R. Murdock
Hongzheng Dai
Fan Xia
Shamika Ketkar
Brian Dawson
Vinodh Narayanan
Hillary K. Graves
Maria T. Acosta
David R. Adams
Ben Afzali
Ali Al-Beshri
Eric Allenspach
Aimee Allworth
Raquel L. Alvarez
Justin Alvey
Ashley Andrews
Euan A. Ashley
Carlos A. Bacino
Guney Bademci
Ashok Balasubramanyam
Dustin Baldridge
Erin Baldwin
Jim Bale
Elsa Balton
Michael Bamshad
Deborah Barbouth
Pinar Bayrak-Toydemir
Anita Beck
Alan H. Beggs
Edward Behrens
Gill Bejerano
Hugo J. Bellen
Jimmy Bennett
Jonathan A. Bernstein
Gerard T. Berry
Stephanie Bivona
Elizabeth Blue
John Bohnsack
Devon Bonner
Nicholas Borja
Lorenzo Botto
Lauren C. Briere
Elizabeth A. Burke
Lindsay C. Burrage
Manish J. Butte
Peter Byers
William E. Byrd
Kaitlin Callaway
John Carey
George Carvalho
Thomas Cassini
Sirisak Chanprasert
Hsiao-Tuan Chao
Ivan Chinn
Gary D. Clark
Terra R. Coakley
Laurel A. Cobban
Joy D. Cogan
Matthew Coggins
F. Sessions Cole
Brian Corner
Rosario I. Corona
William J. Craigen
Andrew B. Crouse
Vishnu Cuddapah
Precilla D'Souza
Hongzheng Dai
Nitsuh K. Dargie
Kahlen Darr
Surendra Dasari
Joie Davis
Margaret Delgado
Esteban C. Dell'Angelica
Katrina Dipple
Daniel Doherty
Naghmeh Dorrani
Jessica Douglas
Emilie D. Douine
Dawn Earl
Lisa T. Emrick
Christine M. Eng
Cecilia Esteves
Kimberly Ezell
Elizabeth L. Fieg
Paul G. Fisher
Brent L. Fogel
Jiayu Fu
William A. Gahl
Rebecca Ganetzky
Emily Glanton
Ian Glass
Page C. Goddard
Joanna M. Gonzalez
Andrea Gropman
Meghan C. Halley
Rizwan Hamid
Neal Hanchard
Kelly Hassey
Nichole Hayes
Frances High
Anne Hing
Fuki M. Hisama
Ingrid A. Holm
Jason Hom
Martha Horike-Pyne
Alden Huang
Yan Huang
Anna Hurst
Wendy Introne
Gail P. Jarvik
Suman Jayadev
Orpa Jean-Marie
Vaidehi Jobanputra
Oguz Kanca
Yigit Karasozen
Shamika Ketkar
Dana Kiley
Gonench Kilich
Eric Klee
Shilpa N. Kobren
Isaac S. Kohane
Jennefer N. Kohler
Bruce Korf
Susan Korrick
Deborah Krakow
Elijah Kravets
Seema R. Lalani
Christina Lam
Brendan C. Lanpher
Ian R. Lanza
Kumarie Latchman
Kimberly LeBlanc
Brendan Lee
Kathleen A. Leppig
Richard A. Lewis
Pengfei Liu
Nicola Longo
Joseph Loscalzo
Richard L. Maas
Ellen F. Macnamara
Calum A. MacRae
Valerie V. Maduro
AudreyStephannie Maghiro
Rachel Mahoney
May Christine V. Malicdan
Rong Mao
Ronit Marom
Gabor Marth
Beth A. Martin
Martin G. Martin
Julian A. Martínez-Agosto
Shruti Marwaha
Allyn McConkie-Rosell
Ashley McMinn
Matthew Might
Mohamad Mikati
Danny Miller
Ghayda Mirzaa
Breanna Mitchell
Paolo Moretti
Marie Morimoto
John J. Mulvihill
Lindsay Mulvihill
Mariko Nakano-Okuno
Stanley F. Nelson
Serena Neumann
Donna Novacic
Devin Oglesbee
James P. Orengo
Laura Pace
Stephen Pak
J. Carl Pallais
Neil H. Parker
LéShon Peart
Leoyklang Petcharet
John A. Phillips
Filippo Pinto e Vairo
Jennifer E. Posey
Lorraine Potocki
Barbara N. Pusey Swerdzewski
Aaron Quinlan
Daniel J. Rader
Ramakrishnan Rajagopalan
Deepak A. Rao
Anna Raper
Wendy Raskind
Adriana Rebelo
Chloe M. Reuter
Lynette Rives
Lance H. Rodan
Martin Rodriguez
Jill A. Rosenfeld
Elizabeth Rosenthal
Francis Rossignol
Maura Ruzhnikov
Marla Sabaii
Jacinda B. Sampson
Timothy Schedl
Lisa Schimmenti
Kelly Schoch
Daryl A. Scott
Elaine Seto
Vandana Shashi
Emily Shelkowitz
Sam Sheppeard
Jimann Shin
Edwin K. Silverman
Giorgio Sirugo
Kathy Sisco
Tammi Skelton
Cara Skraban
Carson A. Smith
Kevin S. Smith
Lilianna Solnica-Krezel
Ben Solomon
Rebecca C. Spillmann
Andrew Stergachis
Joan M. Stoler
Kathleen Sullivan
Shamil R. Sunyaev
Shirley Sutton
David A. Sweetser
Virginia Sybert
Holly K. Tabor
Queenie Tan
Arjun Tarakad
Herman Taylor
Mustafa Tekin
Willa Thorson
Cynthia J. Tifft
Camilo Toro
Alyssa A. Tran
Rachel A. Ungar
Adeline Vanderver
Matt Velinder
Dave Viskochil
Tiphanie P. Vogel
Colleen E. Wahl
Melissa Walker
Nicole M. Walley
Jennifer Wambach
Michael F. Wangler
Patricia A. Ward
Daniel Wegner
Mark Wener
Tara Wenger
Monte Westerfield
Matthew T. Wheeler
Jordan Whitlock
Lynne A. Wolfe
Heidi Wood
Kim Worley
Shinya Yamamoto
Zhe Zhang
Stephan Zuchner
Michael F. Wangler
Carlos Bacino
Affiliated Authors:
Rebecca R. Hernan
Foong Y. Lim
Columbia Affiliation:
Author Keywords:
epigenetic
neurodevelopment
polycomb
rybp
ubiquitin
elink
Publication Type:
Article
Unique ID:
10.1016/j.gim.2025.101369
PMID:
39891528
DOI:
10.1016/j.gim.2025.101369
Journal:
Genetics in Medicine
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record

Record Created: