Bruno Reversade

43PUBLICATIONS
322CO-AUTHORS
AutoimmunityMicroelectronicsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Neurogenetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (43)

|Oct 07, 2026
Biallelic loss-of-function PTPN6 variants lead to inflammatory lung disease and hemolytic anemia.

|Mar 23, 2026
Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End.

Lucinda C Xiao, Ayush Semwal, Brianna St John

|Mar 20, 2026
IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.

Fang Yuan, Ye Sing Tan, Haofei Wang

|Feb 03, 2025
Genomics of rare diseases in the Greater Middle East.

Ikram Chekroun, Shruti Shenbagam, Mohamed A Almarri

|Sep 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

V Kartik Chundru, Zhancheng Zhang, Klaudia Walter

|Dec 05, 2023
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity.

Hamdi Mbarek, Scott D Gordon, David L Duffy

Pageof 8

Frequent Collaborators

6 joint publications

Nathalie Escande-Beillard

5 joint publications

Hϋlya Kayserili

4 joint publications

Jean-François Deleuze

4 joint publications

Byrappa Venkatesh