Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
- Ghayda M. Mirzaa
- Keqin Yan
- Raissa Relator
- Mathieu Lévesque
- Pranisha Jayasinghe
- Sara Timpano
- Binnaz Yalcin
- Stephan Collins
- Alban Ziegler
- Emily Pao
- Nora Oyama
- Elise Brischoux-Boucher
- Juliette Piard
- Kristin G. Monaghan
- Maria. J. Guillen Sacoto
- William B. Dobyns
- Kristen L. Park
- Daniel Martin Fernández-Mayoralas
- Alberto Fernández-Jaén
- Parul Jayakar
- María Palomares-Bralo
- Fernando Santos-Simarro
- Alfredo Brusco
- Vincenzo Antona
- Elisa Giorgio
- Malin Kvarnung
- Bertrand Isidor
- Solène Conrad
- Benjamin Cogné
- Wallid Deb
- Kyra E. Stuurman
- Katalin Štěrbová
- Noor Smal
- Sarah Weckhuysen
- Renske Oegema
- A. Micheil Innes
- Daniel. C. Koboldt
- Tawfeg Ben-Omran
- Rebecca C. Yeh
- Michael C. Kruer
- Somayeh Bakhtiari
- Antigone Papavasiliou
- Sébastien Moutton
- Sophie Nambot
- Sirisak Chanprasert
- Sarah A. Paolucci
- Kait Miller
- Barbara Burton
- Katherine Kim
- Emily O’Heir
2025-11-10