Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

G Ghayda M. Mirzaa K Keqin Yan R Raissa Relator M Mathieu Levesque P Pranisha Jayasinghe S Sara Timpano B Binnaz Yalcin S Stephan Collins A Alban Ziegler E Emily Pao N Nora Oyama E Elise Brischoux-Boucher J Juliette Piard K Kristin G. Monaghan M Maria. J. Guillen Sacoto W William B. Dobyns K Kristen L. Park D Daniel Martin Fernández-Mayoralas A Alberto Fernández-Jaén P Parul Jayakar M María Palomares-Bralo F Fernando Santos-Simarro A Alfredo Brusco V Vincenzo Antona E Elisa Giorgio M Malin Kvarnung B Bertrand Isidor S Solène Conrad B Benjamin Cogné W Wallid Deb K Kyra E. Stuurman K Katalin Štěrbová N Noor Smal S Sarah Weckhuysen R Renske Oegema A A. Micheil Innes D Daniel. C. Koboldt T Tawfeg Ben-Omran R Rebecca C. Yeh M Michael C. Kruer S Somayeh Bakhtiari A Antigone Papavasiliou S Sébastien Moutton S Sophie Nambot S Sirisak Chanprasert S Sarah A. Paolucci K Kait Miller B Barbara Burton K Katherine Kim E Emily O’Heir Z Zandre Bruwer K Kirsten. A. Donald T Tjitske Kleefstra A Amy Goldstein B Brad Angle K Kelly Bontempo P Peter Miny P Pascal Joset F Florence Demurger E Emma Hobson (Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals National Health Service Trust) L Lewis Pang L Lori Carpenter D Dong Li D Dominique Bonneau B Bekim Sadikovic D David J. Picketts (Regenerative Medicine Program, Ottawa Hospital Research Institute)

Article Details

Volume / Issue Vol. 16, Issue 1
Published November 10, 2025
ISSN 2041-1723
Publisher Nature Portfolio

Journal Info

Nature Communications

Nature Portfolio

ISSN: 2041-1723 Open Access Life Sciences

Authors (66)

G

Ghayda M. Mirzaa

K

Keqin Yan

R

Raissa Relator

M

Mathieu Levesque

P

Pranisha Jayasinghe

S

Sara Timpano

B

Binnaz Yalcin

S

Stephan Collins

A

Alban Ziegler

E

Emily Pao

N

Nora Oyama

E

Elise Brischoux-Boucher

J

Juliette Piard

K

Kristin G. Monaghan

M

Maria. J. Guillen Sacoto

W

William B. Dobyns

K

Kristen L. Park

D

Daniel Martin Fernández-Mayoralas

A

Alberto Fernández-Jaén

P

Parul Jayakar

M

María Palomares-Bralo

F

Fernando Santos-Simarro

A

Alfredo Brusco

V

Vincenzo Antona

E

Elisa Giorgio

M

Malin Kvarnung

B

Bertrand Isidor

S

Solène Conrad

B

Benjamin Cogné

W

Wallid Deb

K

Kyra E. Stuurman

K

Katalin Štěrbová

N

Noor Smal

S

Sarah Weckhuysen

R

Renske Oegema

A

A. Micheil Innes

D

Daniel. C. Koboldt

T

Tawfeg Ben-Omran

R

Rebecca C. Yeh

M

Michael C. Kruer

S

Somayeh Bakhtiari

A

Antigone Papavasiliou

S

Sébastien Moutton

S

Sophie Nambot

S

Sirisak Chanprasert

S

Sarah A. Paolucci

K

Kait Miller

B

Barbara Burton

K

Katherine Kim

E

Emily O’Heir

Z

Zandre Bruwer

K

Kirsten. A. Donald

T

Tjitske Kleefstra

A

Amy Goldstein

B

Brad Angle

K

Kelly Bontempo

P

Peter Miny

P

Pascal Joset

F

Florence Demurger

E

Emma Hobson

Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals National Health Service Trust

L

Lewis Pang

L

Lori Carpenter

D

Dong Li

D

Dominique Bonneau

B

Bekim Sadikovic

D

David J. Picketts

Regenerative Medicine Program, Ottawa Hospital Research Institute