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Imagine Institute,
INSERM UMR 1163,
Imagine Institute, INSERM UMR 1163
Sophie Thomas has not added Biography.
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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
American journal of human genetics Aug, 2015 | Pubmed ID: 26166481
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
American journal of human genetics 06, 2020 | Pubmed ID: 32413283
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clinical genetics 09, 2020 | Pubmed ID: 32621347
Université de paris
Université de Paris
Lucile Boutaud*,1,
Marie Michael*,1,
Céline Banal2,
Damelys Calderon1,
Sarah Farcy1,
Julie Pernelle1,
Nicolas Goudin3,
Camille Maillard1,
Clémantine Dimartino1,
Cécile Deleschaux1,
Sébastien Dupichaud4,
Corinne Lebreton1,
Sophie Saunier1,
Tania Attié-Bitach1,5,
Nadia Bahi-Buisson1,6,
Nathalie Lefort2,
Sophie Thomas1
1Imagine Institute, INSERM UMR 1163, Université de Paris,
2Imagine Institute, iPSC Core Facility, INSERM UMR U1163, Université de Paris,
3, Necker Bio-image Analysis platform of the SFR Necker,
4Imagine Institute, Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, INSERM UMR U1163, Université de Paris,
5Fédération de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris,
6Pediatric Neurology, APHP- Necker Enfants Malades Hospital
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