V. Ea

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

P. Sonigo, L. Salomon, C. Bénéteau, 2021, Prenatal diagnosis.

DYT6 dystonia: Review of the literature and creation of the UMD locus‐specific database (LSDB) for mutations in the THAP1 gene

C. Béroud, M. Claustres, A. Blanchard, 2011, Human mutation.

Contribution of Topological Domains and Loop Formation to 3D Chromatin Organization

Annick Lesne, A. Lesne, Marie-Odile Baudement, 2015, Genes.

How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients.

N. Kalfa, P. Philibert, C. Sultan, 2021, European urology.

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS

I. Touitou, A. Mallavialle, F. Apparailly, 2021, Scientific Reports.

Quantitative Analysis of Intra-chromosomal Contacts: The 3C-qPCR Method.

F. Court, T. Forné, V. Ea, 2015, Methods in molecular biology.

Distinct polymer physics principles govern chromatin dynamics in mouse and Drosophila topological domains

A. Lesne, T. Sexton, J. Victor, 2015, BMC Genomics.

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

A. Destée, P. Burbaud, P. Damier, 2011, Movement disorders : official journal of the Movement Disorder Society.

Distinct polymer physics principles govern chromatin dynamics in mouse and Drosophila topological domains

A. Lesne, Giacomo Cavalli, T. Sexton, 2015, BMC Genomics.