Your account is not claimed yet. You can sign up with ORCID to claim your account.

Angèle Tingaud-Sequeira (Angèle Sequeira)

ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 6

Top Venues

Journal of medical genetics

Molecular genetics & genomic medicine

Human genetics

Clinical genetics

Université de Bordeaux

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

Affiliation History

Université de Bordeaux Dec 15o 2014

France

Engineer :: MRGM-U1211

Publications

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)
Tristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, Geraldine Siegfried, Cédric Lecaignec, Laurence Bouneau, Madeleine Fannemel, Gaelle Salaun, Fanny Laffargue, Guillaume Martinez, Véronique Satre, Gaelle Vieville, Marie Bidart, Cecilia Soussi Zander, Ann-Charlotte Turesson, Miranda Splitt, Dorothee Reboul, Jean Chiesa, Philippe Khau Van Kien, Manon Godin, Nicolas Gruchy, Himanshu Goel, Elizabeth Palmer, Kalliope Demetriou, Carolyn Shalhoub, Caroline Rooryck, Charles Coutton
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum. Journal of medical genetics (2022)
Angèle Tingaud-Sequeira, Aurélien Trimouille, Thomas Sagardoy, Didier Lacombe, Caroline Rooryck
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease. Journal of medical genetics 59 (5) (2022)
Aurélien Trimouille, Angèle Tingaud-Sequeira, Didier Lacombe, Tina Duelund Hjortshøj, Sven Kreiborg, Hanne Buciek Hove, Caroline Rooryck
Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3. Clinical genetics 98 (4) (2021)
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)
Angèle Tingaud-Sequeira, Aurélien Trimouille, Sandrine Marlin, Estelle Lopez, Marie Berenguer, Souad Gherbi, Benoit Arveiler, Didier Lacombe, Caroline Rooryck
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS. Molecular genetics & genomic medicine 8 (10) (2020)

Angèle Tingaud-Sequeira.css-eqlu8i{font-size:small;padding-left:4px;} (Angèle Sequeira)

Publication Activity (10 Years)

Top Topics

Top Venues

Angèle Tingaud-Sequeira (Angèle Sequeira)