Fabienne Ropers - Academia.edu (original) (raw)

Papers by Fabienne Ropers

Research paper thumbnail of Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

by Philippe Campeau, Dagmar Wieczorek, Valeria Capra, Cindy Skinner, Marzia Ognibene, Marcello Scala, Fabienne Ropers, Amelle Shillington, Michelle Morrow, Pleuntje van der Sluijs, Benjamin Cogné, and Rami Jamra

Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders cau... more Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort.