Loading Filters
Showing 1–6 of 6 results
-
Research |
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
- Eline A. Verberne
- , Shuxiang Goh
- , Jade England
- , Manon van Ginkel
- , Louise Rafael-Croes
- , Saskia Maas
- , Abeltje Polstra
- , Yuri A. Zarate
- , Katherine A. Bosanko
- , Kieran B. Pechter
- , Emma Bedoukian
- , Kosuke Izumi
- , Ayeshah Chaudhry
- , Nathaniel H. Robin
- , Megan Boothe
- , Natalie C. Lippa
- , Vimla Aggarwal
- , Darryl C. De Vivo
- , Anna Lehman
- , Causes Study
- , Sylvia Stockler
- , Ange-Line Bruel
- , Bertrand Isidor
- , Jennifer Lemons
- , David F. Rodriguez-Buritica
- , Christopher M. Richmond
- , Zornitza Stark
- , Pankaj B. Agrawal
- , R. Frank Kooy
- , Marije E. C. Meuwissen
- , David A. Koolen
- , Rolf Pfundt
- , Agne Lieden
- , Britt-Marie Anderlid
- , Dagmar Glatz
- , Marcel M. A. M. Mannens
- , Madhura Bakshi
- , Frédérick A. Mallette
- , Mieke M. van Haelst
- & Philippe M. Campeau
-
Research |
-
Research |
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
- Li Xin Zhang
- , Gabrielle Lemire
- , Claudia Gonzaga-Jauregui
- , Sirinart Molidperee
- , Carolina Galaz-Montoya
- , David S. Liu
- , Alain Verloes
- , Amelle G. Shillington
- , Kosuke Izumi
- , Alyssa L. Ritter
- , Beth Keena
- , Elaine Zackai
- , Dong Li
- , Elizabeth Bhoj
- , Jennifer M. Tarpinian
- , Emma Bedoukian
- , Mary K. Kukolich
- , A. Micheil Innes
- , Grace U. Ediae
- , Sarah L. Sawyer
- , Karippoth Mohandas Nair
- , Para Chottil Soumya
- , Kinattinkara R. Subbaraman
- , Frank J. Probst
- , Jennifer A. Bassetti
- , Reid V. Sutton
- , Richard A. Gibbs
- , Chester Brown
- , Philip M. Boone
- , Ingrid A. Holm
- , Marco Tartaglia
- , Giovanni Battista Ferrero
- , Marcello Niceta
- , Maria Lisa Dentici
- , Francesca Clementina Radio
- , Boris Keren
- , Constance F. Wells
- , Christine Coubes
- , Annie Laquerrière
- , Jacqueline Aziza
- , Charlotte Dubucs
- , Sheela Nampoothiri
- , David Mowat
- , Millan S. Patel
- , Ana Bracho
- , Francisco Cammarata-Scalisi
- , Alper Gezdirici
- , Alberto Fernandez-Jaen
- , Natalie Hauser
- , Yuri A. Zarate
- , Katherine A. Bosanko
- , Klaus Dieterich
- , John C. Carey
- , Jessica X. Chong
- , Deborah A. Nickerson
- , Michael J. Bamshad
- , Brendan H. Lee
- , Xiang-Jiao Yang
- , James R. Lupski
- & Philippe M. Campeau
-
-
-
Research |
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
- Kosuke Izumi
- , Ryuichiro Nakato
- , Zhe Zhang
- , Andrew C Edmondson
- , Sarah Noon
- , Matthew C Dulik
- , Ramakrishnan Rajagopalan
- , Charles P Venditti
- , Karen Gripp
- , Joy Samanich
- , Elaine H Zackai
- , Matthew A Deardorff
- , Dinah Clark
- , Julian L Allen
- , Dale Dorsett
- , Ziva Misulovin
- , Makiko Komata
- , Masashige Bando
- , Maninder Kaur
- , Yuki Katou
- , Katsuhiko Shirahige
- & Ian D Krantz
