Silvestre Cuinat - Dissemin

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All papers authored by Silvestre Cuinat

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2023 Natarin Caengprasath, Mathilde Nizon, Ratchathorn Panchaprateep, Benjamin Cogne, Silvestre Cuinat

ORCID

, Hélène Auburt, Nathalie Jonca, Thantrira Porntaveetus, Vorasuk Shotelersuk

Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies

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Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck

ORCID

, Charles Schwartz, Laurence Faivre, Patrick Callier and 28 other authors

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

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Silvestre Cuinat

ORCID

, Chloé Quélin, Laurent Pasquier, Philippe Loget, Dominique Aussel, Sylvie Odent, Annie Laquerrière, Maia Proisy, Sylvie Mazoyer, Marion Delous, Patrick Edery, Nicolas Chatron, Gaetan Lesca, Audrey Putoux

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect

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Silvestre Cuinat

ORCID

, Stéphane Bézieau, Wallid Deb, Sandra Mercier, Virginie Vignard, Bertrand Isidor, Sébastien Küry, Frédéric Ebstein

ORCID

Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives

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Silvestre Cuinat

ORCID

Response to Chunquan Cai et al

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Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier and 29 other authors

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

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This paper was not found in any repository, but could be made available legally by the author.

2022 Silvestre Cuinat

ORCID

, Mathilde Nizon, Bertrand Isidor, Alexander Stegmann

ORCID

, Richard H. van Jaarsveld, Koen L. van Gassen, Jasper J. van der Smagt, Catharina M. L. Volker-Touw, Sjoerd J. B. Holwerda, Paulien A. Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa A. Nugud, Hemad Yasaei and 36 other authors

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

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Guillaume Jouret, Solveig Heide, Arthur Sorlin, Laurence Faivre, Sandra Chantot‐Bastaraud, Claire Beneteau, Marie Denis‐Musquer, Peter D. Turnpenny, Charles Coutton

ORCID

, Gaëlle Vieville, Julien Thevenon, Austin Larson, Florence Petit

ORCID

, Elise Boudry, Thomas Smol and 24 other authors

Understanding the new BRD4 ‐related syndrome: Clinical and genomic delineation with an international cohort study

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2020 Valentin Ruault

ORCID

, Kevin Yauy, Aurélie Fabre, Mélanie Fradin, Julien Van-Gils, Chloé Angelini, Geneviève Baujat, Patricia Blanchet, Silvestre Cuinat

ORCID

, Bertrand Isidor, Christian Jorgensen, Didier Lacombe, Sébastien Moutton, Sylvie Odent, Elodie Sanchez and 6 other authors

Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis

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