V. Michaud

发表

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

H. Mefford, O. Devinsky, A. Bayat, 2022, EBioMedicine.

Hereditary mucoepithelial dysplasia results from heterozygous variants at p.Arg557 mutational hotspot in SREBF1, encoding a transcription factor involved in cholesterol homeostasis.

F. Boralevi, F. Morice‐Picard, H. Rezvani, 2019, The Journal of investigative dermatology.

Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

L. Faivre, S. Gorokhova, J. Amiel, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

[Dermatomyositis in childhood with recurrence in adulthood: 2 cases].

B. Crickx, V. Michaud, S. Bélaïch, 1993, Annales de dermatologie et de venereologie.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

R. Pfundt, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Saskia M. J. Hopman, R. Pfundt, E. van Binsbergen, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES. A case report.

P. Fergelot, E. Lasseaux, B. Arveiler, 2020, The journal of gene medicine.

Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg.

F. Boralevi, J. Mazereeuw-Hautier, V. Guigonis, 2019, Acta Dermato-Venereologica.

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene

P. Pennamen, J. Korobelnik, D. Bonneau, 2018, British Journal of Ophthalmology.

Dopachrome tautomerase variants in patients with oculocutaneous albinism

I. Jackson, P. Pennamen, D. Lacombe, 2020, Genetics in Medicine.

The Dct−/− Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism

E. Gontier, I. Jackson, S. Javerzat, 2022, bioRxiv.

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

P. Pennamen, M. Marks, D. Lacombe, 2020, Genetics in Medicine.

ALBINISM: AN UNDERDIAGNOSED CONDITION.

E. Lasseaux, B. Arveiler, V. Michaud, 2019, The Journal of investigative dermatology.

Molecular characterization of a series of 990 index patients with albinism

P. Pennamen, C. Rooryck, D. Lacombe, 2018, Pigment cell & melanoma research.

Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS

P. Fergelot, P. Jouk, A. Verloes, 2017, Pigment cell & melanoma research.

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome

A. Afenjar, C. Schaaf, U. Grasshoff, 2022, American journal of medical genetics. Part A.

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism

E. Birney, P. Sergouniotis, E. Lasseaux, 2023, medRxiv.

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation

S. Hadj-Rabia, E. Lasseaux, B. Arveiler, 2022, Genes.

The contribution of common regulatory and protein-coding TYR variants in the genetic architecture of albinism

Dave T. Gerrard, E. Birney, Tesca Fitzgerald, 2021, medRxiv.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism

P. Pennamen, E. Lasseaux, B. Arveiler, 2019, Ophthalmic genetics.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

H. Mefford, H. Rehm, M. Koenig, 2021, Brain : a journal of neurology.

[Facial hemangioma associated with arterial anomalies, coarctation of the aorta, and eye abnormalities: PHACES syndrome].

P. Acar, D. Sidi, Y. de Prost, 2000, Annales de dermatologie et de venereologie.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

C. Nellåker, F. Alkuraya, D. Lacombe, 2021, Clinical genetics.

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia

C. Goizet, C. Durand, C. Delleci, 2022, BMC Neurology.

Stephan J Sanders, P. Striano, G. Rubboli, 2023, Annals of neurology.

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

J. Buchan, D. Lacombe, M. Parker, 2023, American journal of human genetics.

Clinical variability and probable founder effect in oculocutaneous albinism type 7

C. Bodemer, A. Harroche, S. Hadj-Rabia, 2019, Clinical Genetics.

P. Fergelot, F. Alkuraya, P. Bayrak-Toydemir, 2023, Journal of Medical Genetics.

A multilayered approach to the analysis of genetic data from individuals with suspected albinism

E. Birney, P. Sergouniotis, S. Javerzat, 2023, Journal of Medical Genetics.

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome

P. Pennamen, D. Lacombe, F. Giuliano, 2020, Pigment cell & melanoma research.

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

E. Birney, P. Sergouniotis, E. Lasseaux, 2022, Nature Communications.

Ophthalmologic Phenotype–Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

J. Korobelnik, E. Lasseaux, M. Delyfer, 2023, Investigative ophthalmology & visual science.

Aminoacylation‐defective bi‐allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness

K. Musier-Forsyth, D. Lacombe, R. Wek, 2022, Clinical genetics.