Didier Lacombe

13PUBLICATIONS
103CO-AUTHORS
NeurogeneticsGene mappingNeurology and neuromuscular diseasesCardiology (incl. cardiovascular diseases)Epigenetics (incl. genome methylation and epigenomics)
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Publications (13)

|Oct 08, 2026
Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.

|Feb 24, 2026
Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Alicia Coudert, Pauline Le Tanno, William Dufour

|Apr 27, 2025
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.

Didier Bessis, Dominique Vidaud, Pierre Meyer

|Dec 28, 2024
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Manon Degoutin, Chloé Angelini, Claire Bar

|Oct 02, 2024
Classification of PTEN germline non-truncating variants: a new approach to interpretation.

Henri Margot, Natalie Jones, Thibaut Matis

|Aug 24, 2024
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome.

Jade Fauqueux, Simon Boussion, Caroline Thuillier

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Frequent Collaborators

2 joint publications

Aurélien Trimouille

2 joint publications

Henri Margot

2 joint publications

Irene Valenzuena Palafoll

2 joint publications

Amélie Piton