Didier Lacombe
12PUBLICATIONS
83CO-AUTHORS
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Publications (12)
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|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 <i>PTEN</i> 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 <i>MED13L</i> exon 7 lead to intron retention in patients with <i>MED13L</i> syndrome.Jade Fauqueux, Simon Boussion, Caroline Thuillier
|Apr 09, 2024
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene.Henri Margot, Adrien Pizano, Anouck Amestoy
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Frequent Collaborators
2 joint publications
Aurélien Trimouille
2 joint publications
Henri Margot
2 joint publications
Thomas Smol
2 joint publications
Vincent Michaud
1 joint publications
E Brischoux-Boucher
1 joint publications
G Baujat
1 joint publications
Klaus Dieterich
1 joint publications
S Baer
1 joint publications
E Weber
1 joint publications
C Collet
