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Silvestre Cuinat

nantes universite

6H-index
23Paper Count
157Citation Count
Published Papers 15
Publication Date
Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed
err2026-06-19
err0
errOAAI
errSilvestre Cuinat; Valérie Cormier-Daire; Jeremie Rosain; Céline Huber; Elsa Ferriere; Benjamin Fournier; Morgane Cheminant; Martin Castelle; Paul Bastard; Nicolas Noel; Katia Bourdic; Capucine Picard; Despina Moshous; Virginie Courteille; Nizar Mahlaoui; Jacinta Bustamante; Gislène Collobert; Cyril Mignot; Boris Keren; Séverine Drunat
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Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum
err2026-01-08
err0
PREAI
errCuinat, Silvestre; Rouaud, Tiphaine; Besnard, Thomas; Bezieau, Stephane; Bordure, Philippe; Espitalier, Florent; Viakhireva-Dovganyuk, Irina; Verloes, Alain; Vuillaume, Marie-Laure; Khiati, Salim; Procaccio, Vincent; Mercier, Sandra
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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
err2025-11-26
err0
errOAAI
errSébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
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Genetic modifiers and ascertainment drive variable expressivity of complex disorders
errCell
IF42.5
err2025-10-07
err0
errOAAI
errMatthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Jiawan Sun; Serena Noss; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie R. Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddharth Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa L. Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan
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Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival
err2025-05-30
err0
errOAAI
errSilvestre Cuinat MD; Christèle Dubourg MD, PhD; Gaël Nicolas MD, PhD; Jean-Madeleine de Sainte Agathe MD; Sylvie Odent MD, PhD; Laurent Pasquier MD, PhD; Audrey Riou MD
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Acid Ceramidase Deficiency
err2025-04-01
err0
PREAI
errCuinat, Silvestre; Rollier, Paul; Grand, Katheryn; Sanchez-Lara, Pedro A.; Allen-Sharpley, Michelle; Levade, Thierry; Vanier, Marie T.; Lion Francois, Laurence; Chemaly, Nicole; de Lattre, Capucine; Moreau, Camille; Paquot, Adrien; Beghyn, Terence; de Masfrand, Servane; Bezieau, Stephane; Mercier, Sandra; Boespflug-Tanguy, Odile
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XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
err2025-03-01
err0
errOAAI
errCuinat, Silvestre; Chatron, Nicolas; Petit, Florence; Brunelle, Perrine; Dincuff, Etienne; Aubert Mucca, Marion; Bieth, Eric; Schmetz, Ariane; Rieder, Harald; Wollnik, Bernd; Kaulfuss, Silke; Yigit, Goekhan; Mckeown, Colina; Savage, Tim; Mulligan, Meghan R.; Bicknell, Louise S.; Corsten-Janssen, Nicole; Edery, Patrick; Lesca, Gaetan; de Villartay, Jean-Pierre; Putoux, Audrey
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A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids
err2024-12-16
err0
errOAAI
errGuguin, Justine; Chen, Ting-Yu; Cuinat, Silvestre; Besson, Alicia; Bertiaux, Eloise; Boutaud, Lucile; Ardito, Nolan; Murguiondo, Miren Imaz; Cabet, Sara; Hamel, Virginie; Thomas, Sophie; Pain, Bertrand; Edery, Patrick; Putoux, Audrey; Tang, Tang K.; Mazoyer, Sylvie; Delous, Marion
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Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives
err2024-11-01
err2
errOAAI
errCuinat, Silvestre; Bezieau, Stephane; Deb, Wallid; Mercier, Sandra; Vignard, Virginie; Isidor, Bertrand; Kury, Sebastien; Ebstein, Frederic
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Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
err2024-06-07
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errOAAI
errCuinat, Silvestre; Quelin, Chloe; Effray, Claire; Dubourg, Christele; Le Bouar, Gwenaelle; Cabaret-Dufour, Anne-Sophie; Loget, Philippe; Proisy, Maia; Sauvestre, Fanny; Sarreau, Melie; Martin-Berenguer, Sophie; Beneteau, Claire; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Trimouille, Aurelien; Mace, Pierre; Sigaudy, Sabine; Glazunova, Olga; Torrents, Julia; Raymond, Laure; Saint-Frison, Marie-Helene; Attie-Bitach, Tania; Lefebvre, Mathilde; Capri, Yline; Bourgon, Nicolas; Thauvin-Robinet, Christel; Tran Mau-Them, Frederic; Bruel, Ange-Line; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Brehin, Anne-Claire; Goldenberg, Alice; Patrier-Sallebert, Sophie; Perani, Alexandre; Dauriat, Benjamin; Bourthoumieu, Sylvie; Yardin, Catherine; Marquet, Valentine; Barnique, Marion; Fiorenza-Gasq, Maryse; Marey, Isabelle; Tournadre, Danielle; Doumit, Raia; Nugues, Frederique; Barakat, Tahsin Stefan; Bustos, Francisco; Jaillard, Sylvie; Launay, Erika; Pasquier, Laurent; Odent, Sylvie
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Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
err2023-12-01
err0
PREAI
errCaengprasath, Natarin; Nizon, Mathilde; Panchaprateep, Ratchathorn; Cogne, Benjamin; Cuinat, Silvestre; Auburt, Helene; Jonca, Nathalie; Porntaveetus, Thantrira; Shotelersuk, Vorasuk
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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
err2023-12-01
err4
errOAAI
errSmolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; Khattabi, Laila El; Prontera, Paolo; Caberg, Jean-Hubert; Dijck, Anke Van; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J.; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Giuseppa Maria Luana; Bruccheri, Maria Grazia; Pichon, Olivier; Caignec, Cedric Le; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R. Frank; Amor, David J.; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh
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Response to Chunquan Cai et al
err2023-09-01
err0
PREAI
errCuinat, Silvestre
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Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
err2022-08-01
err14
errOAAI
errCuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, Benjamin
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Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis
err2020-08-25
err11
errOAAI
errRuault, Valentin; Yauy, Kevin; Fabre, Aurelie; Fradin, Melanie; Van-Gils, Julien; Angelini, Chloe; Baujat, Genevieve; Blanchet, Patricia; Cuinat, Silvestre; Isidor, Bertrand; Jorgensen, Christian; Lacombe, Didier; Moutton, Sebastien; Odent, Sylvie; Sanchez, Elodie; Sigaudy, Sabine; Touitou, Isabelle; Willems, Marjolaine; Apparailly, Florence; Genevieve, David; Barat-Houari, Mouna
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