Florence Petit

37PUBLICATIONS
252CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsNeurology and neuromuscular diseasesCondensed matter characterisation technique developmentRespiratory diseases
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Publications (37)

|Jun 21, 2026
Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.

|Mar 03, 2026
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

Perrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande

|Aug 04, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Laurence Pacot, Marinus Blok, Dominique Vidaud

|Jul 09, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.

Russell Gear, Paul Kalitsis, Melissa Glass

|Apr 04, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Christel Thauvin-Robinet, Aurore Garde, Maud Favier

|Oct 26, 2024
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome.

Florence Petit, Louise Devisme, Dimitri Tchernitchko

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Frequent Collaborators

6 joint publications

Thomas Smol

5 joint publications

Jamal Ghoumid

3 joint publications

Arthur Sorlin

3 joint publications

Marie Vincent