Benoit Arveiler (Benoît Arveiler, B Arveiler)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 19

Top Venues

Genes

Pigment cell & melanoma research

European journal of human genetics : EJHG

Ophthalmic genetics

University of Bordeaux and Univ Hospital

University of Strasbourg (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Bordeaux and Univ Hospital Oct 01 1992

France

Prof - Group leader :: Medical Genetics

Education History

University of Strasbourg Sep 01 1985 - Dec 19 1988

France

PHD :: Molecular Genetics

Publications

Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel J Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily M Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler
Functional Characterization of Splice Variants in the Diagnosis of Albinism. International journal of molecular sciences 25 (16) (2024)
Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel J Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily M Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler
Functional Characterization of Splice Variants in the Diagnosis of Albinism. International journal of molecular sciences 25 (16) (2024)
Modibo Diallo, Ousmane Sylla, Mohamed Kole Sidibé, Claudio Plaisant, Elina Mercier, Angèle Tingaud-Sequeira, Sophie Javerzat, Abdelaziz Hadid, Eulalie Lasseaux, Vincent Michaud, Benoit Arveiler
Genotypic spectrum of albinism in Mali. Pigment cell & melanoma research (2024)
Vincent Michaud, Angèle Tingaud-Sequeira, Elina Mercier, Eulalie Lasseaux, Claudio Plaisant, Smail Hadj Rabia, Sandra Whalen, Dominique Bonneau, Anne Dieux-Coeslier, Fanny Morice-Picard, Juliette Coursimault, Benoit Arveiler, Sophie Javerzat
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. Pigment cell & melanoma research (2023)
R Lejoyeux, A-S Alonso, J Lafolie, Vincent Michaud, Eulalie Lasseaux, V Vasseur, S Derrien, M P Robert, Y Le Mer, R Tadayoni, Benoit Arveiler, M Mauget-Faÿsse
Foveal hypoplasia in parents of patients with albinism. Ophthalmic genetics (2022)
Vincent Michaud, Eulalie Lasseaux, David J Green, Dave T Gerrard, Claudio Plaisant, null null, Tomas W Fitzgerald, Ewan Birney, Benoit Arveiler, Graeme C M Black, Panagiotis I Sergouniotis
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. Nature communications 13 (1) (2022)
Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu P Robert, Valentine Coste, Vincent Michaud, Stephanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation. Genes 13 (12) (2022)
Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu P Robert, Valentine Coste, Vincent Michaud, Stephanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation. Genes 13 (12) (2022)
Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu P Robert, Valentine Coste, Vincent Michaud, Stephanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation. Genes 13 (12) (2022)
Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu P Robert, Valentine Coste, Vincent Michaud, Stephanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation. Genes 13 (12) (2022)
Angèle Tingaud-Sequeira, Aurélien Trimouille, Manju Salaria, Rachel Stapleton, Stéphane Claverol, Claudio Plaisant, Marc Bonneu, Estelle Lopez, Benoit Arveiler, Didier Lacombe, Caroline Rooryck
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum. Human genetics 140 (6) (2021)
Vincent Michaud, Mathieu Fiore, Valentine Coste, Yoann Huguenin, Jean Claude Bordet, Claudio Plaisant, Eulalie Lasseaux, Fanny Morice-Picard, Benoit Arveiler
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies. Platelets 32 (3) (2020)
Perrine Pennamen, Angèle Tingaud-Sequeira, Vincent Michaud, Fanny Morice-Picard, Claudio Plaisant, Catherine Vincent-Delorme, Fabienne Giuliano, Saba Azarnoush, Yline Capri, Carolina Marçon, Didier Lacombe, Eulalie Lasseaux, Benoit Arveiler
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome. Pigment cell & melanoma research 34 (1) (2020)
Perrine Pennamen, Angèle Tingaud-Sequeira, Iveta Gazova, Margaret Keighren, Lisa McKie, Sandrine Marlin, Souad Gherbi Halem, Josseline Kaplan, Cédric Delevoye, Didier Lacombe, Claudio Plaisant, Vincent Michaud, Eulalie Lasseaux, Sophie Javerzat, Ian Jackson, Benoit Arveiler
Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genetics in medicine : official journal of the American College of Medical Genetics 23 (3) (2020)
Vincent Michaud, Sabine Defoort-Dhellemmes, Isabelle Drumare, Perrine Pennamen, Claudio Plaisant, Eulalie Lasseaux, Benoit Arveiler
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. Ophthalmic genetics 40 (2) (2019)
Aurélien Trimouille, Angèle Tingaud-Sequeira, Perrine Pennamen, Gwenaelle André, Julie Bouron, Cécile Boucher, Patricia Fergelot, Didier Lacombe, Benoit Arveiler, Caroline Rooryck
Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture. European journal of human genetics : EJHG 27 (3) (2018)
Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud, Perrine Pennamen, Aurelien Trimouille, Laetitia Gaston, Solène Monfermé, Didier Lacombe, Caroline Rooryck, Fanny Morice-Picard, Benoit Arveiler
Molecular characterization of a series of 990 index patients with albinism. Pigment cell & melanoma research 31 (4) (2018)
Aurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, Patricia Fergelot, Cécile Boucher, Jérôme Toutain, Cédric Le Caignec, Marie Vincent, Mathilde Nizon, Joris Andrieux, Clemence Vanlerberghe, Bruno Delobel, Bénédicte Duban, Shehla Mohammed, Emma Baple, Colina McKeown, Gemma Poke, Kate Robertshaw, Eve Fifield, Antonella Fabretto, Vanna Pecile, Paolo Gasparini, Marco Carrozzi, Didier Lacombe, Benoit Arveiler, Caroline Rooryck, Sebastien Moutton
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. European journal of human genetics : EJHG 26 (1) (2017)
Fanny Morice-Picard, Giovanni Benard, Hamid R Rezvani, Eulalie Lasseaux, Delphine Simon, Sébastien Moutton, Caroline Rooryck, Didier Lacombe, Clarisse Baumann, Benoit Arveiler
Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype. European journal of human genetics : EJHG 25 (1) (2016)

Benoit Arveiler.css-eqlu8i{font-size:small;padding-left:4px;} (Benoît Arveiler, B Arveiler)

Publication Activity (10 Years)

Top Topics

Top Venues

Benoit Arveiler (Benoît Arveiler, B Arveiler)