A

Researcher Profile

Annabelle Chaussenot

3

Publications

108

Citations

10

Co-Authors

3

Active Years

Publications

Open Access Journal Article The Lancet Regional Health - Europe Mar 01, 2025

PFMG2025–integrating genomic medicine into the national healthcare system in France

Caroline Abadie · Aldja Abderrahmane · Ouarda Abdous · Carine Abel +1086 more

10.1016/j.lanepe.2024.101183 32 citations

Open Access Journal Article European Journal of Medical Genetics Dec 01, 2022

Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability

Samira Ait-El-Mkadem Saadi · Elsa Kaphan · Amaya Morales Jaurrieta · Konstantina Fragaki +5 more

10.1016/j.ejmg.2022.104643 7 citations

Open Access Journal Article Human Molecular Genetics Mar 06, 2017

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

Cécile Rouzier · David Moore · Cécile Delorme · Sandra Lacas-Gervais +9 more

10.1093/hmg/ddx060 69 citations

Publication Timeline

2025

1

2022

1

2017

1

Frequent Co-Authors

Cécile Rouzier

Sylvie Bannwarth

Véronique Paquis-Flucklinger

Konstantina Fragaki

Claire Beneteau

Thibault de la Motte Rouge

Vincent Gatinois

Clémentine Legrand