Concepedia

Catherine Vincent‐Delorme

CV

Statistics

Publications

7

Citations

187

H-Index

7

Active since

2005

Affiliations

Université de Lille(Current)

Hôpital Jeanne de Flandre

Centre Hospitalier Universitaire de Lille

Sorbonne Université

Hôpital Saint-Vincent-de-Paul

Catherine Vincent‐Delorme is an author at Université de Lille specializing in molecular genetics, genetics, and medical genetics.

ORCID

Publications per year

2005–2025

7

Publications

7

Twenty-six novelEFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

Ilse Wieland, William Reardon, Sibylle Jakubiczka et al. · Human Mutation · 2005 · 64 citations

, , +17

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

Christian Wentzel, Evica Rajcan‐Separovic, Claudia Ruivenkamp et al. · European Journal of Human Genetics · 2011 · 60 citations · Full text

, , +13

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome

Minh‐Tuan Huynh, Elise Boudry‐Labis, Alfred Massard et al. · European Journal of Human Genetics · 2018 · 18 citations · Full text

, , +9

Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disorders

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji et al. · medRxiv · 2025 · 13 citations · Full text

, , +17

Filamin A Mutations

V. Valentin, Jean-François Bervar, Catherine Vincent‐Delorme et al. · CHEST Journal · 2021 · 11 citations · Full text

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