Vincent Michaud

Université de Bordeaux — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

26h-index2.4kcitations108works5.62yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

melanin and skin pigmentation(37), Animal Disease Management and Epidemiology(19), RNA regulation and disease(19), Vector-Borne Animal Diseases(18), Retinal Development and Disorders(16)

Publications104 total

Evaluation of the X-chromosome inactivation patterns in females with Gabriele-de Vries syndrome and expansion of clinical spectrum
2026Open Access
Exploring <i>RBFOX2</i> Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome
Circulation Genomic and Precision Medicine·2025Open Access
MYH6 in Congenital Heart Defects: A Genotype–Phenotype Characterization in a French Cohort
Pediatric Cardiology·2025· 1 cited
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
Genome Medicine·2025· 1 citedOpen Access
HPS4 bi-allellic ultra-rare variants in Hermansky-Pudlak syndrome pulmonary fibrosis patients in Greece, Cyprus and Türkiye
2025
TRPM3-Associated Disorders: Clinical Spectrum and Treatment Options
Neuropediatrics·2025
From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation
PLoS Genetics·2025Open Access
MYH6 and CHDs: Phenotypic characterization in a cohort of 28 patients
Archives of cardiovascular diseases·2025
The tryptophan–serotonin axis in albinism: an interesting lead?
British Journal of Dermatology·2025
From paleness to albinism: Contribution of <i>OCA2</i> exon 10 skipping to hypopigmentation
2025Open Access
Genetic analysis of participants with foveal hypoplasia
Ophthalmic Genetics·2025
Chiasmal Decussation in Oculo-Cutaneous Albinism Type 8
Investigative Ophthalmology & Visual Science·2025Open Access
A patient with TPCN2-related hypopigmentation and ocular phenotype
European Journal of Human Genetics·2025· 6 citedOpen Access
Phenotype Spectrum of <scp>TRPM3</scp>‐Associated Disorders
Annals of Neurology·2025· 4 citedOpen Access
New experimental approaches to better understand and diagnose oculocutaneous albinism
theses.fr (ABES)·2024Open Access
The phenotypic spectrum of <i>CEP250</i> gene variants
Ophthalmic Genetics·2024· 3 citedOpen Access
A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1
Gene·2024Open Access
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism
Nature Communications·2024· 10 citedOpen Access
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia
Journal of Clinical Immunology·2024· 10 citedOpen Access
Functional Characterization of Splice Variants in the Diagnosis of Albinism
International Journal of Molecular Sciences·2024· 6 citedOpen Access
page 1 of 6Next →

Frequent Co-authors

Benoı̂t Arveiler(21), Eulalie Lasseaux(20), Claudio Plaisant(15), Didier Lacombe(10), Fanny Morice‐Picard(9), Emmanuel Albina(8), Aurélien Trimouille(7), Angèle Tingaud‐Sequeira(7), Perrine Pennamen(6), Sophie Javerzat(6), François Roger(5), Ferrán Jori(4), Rolph Pfundt(4), Sandrine Marlin(4), Alain Verloès(4), Laurence Perrin(4), V. Coste(4), Julien Van‐Gils(4), Yline Capri(3), Vincent Gâtinois(3)