Author

Souad Gherbi

Sorbonne Paris Cité

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Organism:zebrafish· 1

Frequent Co-Authors

Angèle Tingaud‐Sequeira· 1 shared Benoı̂t ArveileriD· 1 shared Cédric DelevoyeiD· 1 shared Claudio PlaisantiD· 1 shared Didier LacombeiD· 1 shared Eulalie LasseauxiD· 1 shared Ian J. JacksoniD· 1 shared Iveta GažováiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Angèle Tingaud‐Sequeira

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1 paper

Recent·Most cited

Dopachrome tautomerase variants in patients with oculocutaneous albinism.

Perrine Pennamen, Angèle Tingaud‐Sequeira, Iveta Gažová, Margaret Keighren, Lisa McKie, Sandrine Marlin, Souad Gherbi, Josseline Kaplan, Cédric Delevoye, Didier Lacombe, Claudio Plaisant, Vincent Michaud, Eulalie Lasseaux, Sophie Javerzat, Ian J. Jackson, Benoı̂t Arveiler

The paper identifies DCT gene variants in two patients with oculocutaneous albinism, demonstrating their association with hypopigmentation and proposing a new subtype, OCA8.

Genetics in Medicine · Oct 25, 2020Peer-reviewedGenetics