Didier Lacombe

Université de Bordeaux — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

83h-index25.3kcitations643works6.62yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(81), Genetics and Neurodevelopmental Disorders(73), Genomics and Rare Diseases(61), Congenital limb and hand anomalies(46), Congenital heart defects research(39)

Publications637 total

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants
Heart Rhythm·2025
Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study
Orphanet Journal of Rare Diseases·2025Open Access
De novo heterozygous variants in EHMT2 genocopy Kleefstra syndrome via loss of G9a methyltransferase activity
2025Open Access
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Nature Medicine·2025Open Access
Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies
Molecular Genetics and Metabolism Reports·2025Open Access
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review
Orphanet Journal of Rare Diseases·2025Open Access
Repression of oxidative phosphorylation by NR2F2, MTERF3 and GDF15 in human skin under high-glucose stress
Redox Biology·2025· 3 citedOpen Access
Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum
European Journal of Human Genetics·2025· 2 cited
An observational cohort study evaluating outcomes in patients with Fabry disease treated with migalastat in a real-world setting in France (MIGA-Fab)
Molecular Genetics and Metabolism·2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Nature Medicine·2025· 29 citedOpen Access
L’amyotrophie spinale: du traitement au dépistage
Revue Francophone des Laboratoires·2025
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic <scp><i>SPAST</i></scp> variants
European Journal of Neurology·2024· 6 citedOpen Access
Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study
2024Open Access
Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome
Communications Biology·2024· 3 citedOpen Access
Classification of <i>PTEN</i> germline non-truncating variants: a new approach to interpretation
Journal of Medical Genetics·2024· 1 citedOpen Access
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Human Genetics and Genomics Advances·2024· 3 citedOpen Access
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
Journal of Medical Genetics·2024· 2 cited
Acid sphingomyelinase deficiency in France: a retrospective survival study
Orphanet Journal of Rare Diseases·2024· 6 citedOpen Access
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
European Journal of Human Genetics·2024· 50 citedOpen Access
CREAT_criteria: What have we learned regarding CTD patient epilepsy? A prospective study increatine transporter deficiency (SLC6A8) patients to determine the most relevant outcome measures
SPIRE - Sciences Po Institutional REpository·2024
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Frequent Co-authors

Alain Verloès(9), Cyril Goizet(8), David Geneviève(8), Bertrand Isidor(8), Valérie Cormier‐Daire(7), Sylvie Odent(7), Hélène Dollfus(7), Fabienne Giuliano(7), Cyril Mignot(6), Albert David(6), Bruno Leheup(6), Christine Francannet(6), Alice Goldenberg(6), Alexandra Afenjar(5), Benoı̂t Arveiler(5), Nicole Philip(5), Raoul C. M. Hennekam(4), Jacqueline Vigneron(4), Clarisse Baumann(4), Laurence Faivre(4)