Camille Kumps

6PUBLICATIONS
30CO-AUTHORS
Medical biotechnology diagnostics (incl. biosensors)PharmacogenomicsNeurology and neuromuscular diseasesCancer geneticsEpigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

|Jul 02, 2026
[High-throughput exome sequencing in prenatal diagnosis : indications, benefits, and limitations].

|May 19, 2026
Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study.

|Nov 25, 2025
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.

Florence Desprez, Solène Remize, Liberty François-Moutal

|Feb 14, 2025
[Experience of a support group for women carrying BRCA1/2 mutations].

Déborah Hersch-Bitter, Yann Lurton, Camille Kumps

|Oct 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova

|Jun 20, 2020
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.

Camille Kumps, Florence Niel Bütschi, Blandine Rapin

Pageof 1

Frequent Collaborators

1 joint publications

Beryl Royer-Bertrand

1 joint publications

Marine Jequier Gygax

1 joint publications

Katarina Cisarova

1 joint publications

Jill A Rosenfeld