Thierry Bienvenu (T Bienvenu)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 19

Top Venues

Clinical genetics

Human mutation

European journal of human genetics : EJHG

Journal of neural transmission (Vienna, Austria : 1996)

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

Publications

Pénélope Jordan, Camille Verebi, Bérénice Hervé, Sandrine Perol, Zeina Chakhtoura, Carine Courtillot, Anne Bachelot, Daphné Karila, Céline Renard, Virginie Grouthier, Stanislas Mulot de la Croix, Valérie Bernard, Corinne Fouveaut, Aude Brac de la Perrière, Sophie Jonard-Catteau, Philippe Touraine, Geneviève Plu-Bureau, Jean Michel Dupont, Sophie Christin-Maitre, Thierry Bienvenu
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology. Clinical genetics (2024)
Pénélope Jordan, Camille Verebi, Bérénice Hervé, Sandrine Perol, Zeina Chakhtoura, Carine Courtillot, Anne Bachelot, Daphné Karila, Céline Renard, Virginie Grouthier, Stanislas Mulot de la Croix, Valérie Bernard, Corinne Fouveaut, Aude Brac de la Perrière, Sophie Jonard-Catteau, Philippe Touraine, Geneviève Plu-Bureau, Jean Michel Dupont, Sophie Christin-Maitre, Thierry Bienvenu
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology. Clinical genetics 106 (1) (2024)
Juliette Quilichini, Sandrine Perol, Laurence Cuisset, Sarah Grotto, Corinne Fouveaut, Jean Claude Barbot, Camille Verebi, Pénélope Jordan, Delphine Héron, Denise Molina-Gomes, Eva Pipiras, Michael Grynberg, Sophie Catteau-Jonard, Philippe Touraine, Sophie Christin-Maître, Geneviève Plu-Bureau, Laila El Khattabi, Thierry Bienvenu
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene. American journal of medical genetics. Part A (2023)
Pénélope Jordan, Camille Verebi, Sandrine Perol, Sarah Grotto, Corinne Fouveaut, Sophie Christin-Maitre, Aude Brac de la Perrière, Virginie Grouthier, Sophie Jonard-Catteau, Philippe Touraine, Geneviève Plu-Bureau, Jean Michel Dupont, Laila El Khattabi, Thierry Bienvenu
NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights. Journal of assisted reproduction and genetics (2023)
Bernt Popp, Thierry Bienvenu, Irina Giurgea, Julia Metreau, Cornelia Kraus, André Reis, Jan Fischer, María Palomares Bralo, Jair Antonio Tenorio Castaño, Pablo Lapunzina, Berta Almoguera, Fermina Lopez-Grondona, Heinrich Sticht, Christiane Zweier
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome. Clinical genetics 102 (6) (2022)
Dianalee McKnight, Lora Bean, Izabela Karbassi, Katelynn Beattie, Thierry Bienvenu, Hope Bonin, Ping Fang, John Chrisodoulou, Michael Friez, Maria Helgeson, Rahul Krishnaraj, Linyan Meng, Lindsey Mighion, Jeffrey Neul, Alan Percy, Simon Ramsden, Huda Zoghbi, Soma Das
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods. Human mutation (2021)
Virginie Carmignac, Sophie Nambot, Daphné Lehalle, Patrick Callier, Stephanie Moortgat, Valérie Benoit, Jamal Ghoumid, Bruno Delobel, Thomas Smol, Caroline Thuillier, Cécile Zordan, Sophie Naudion, Thierry Bienvenu, Renaud Touraine, Francis Ramond, Christiane Zweier, André Reis, Cornelia Kraus, Mathilde Nizon, Benjamin Cogné, Alain Verloes, Frédéric Tran Mau-Them, Arthur Sorlin, Thibaud Jouan, Yannis Duffourd, Emilie Tisserant, Christophe Philippe, Antonio Vitobello, Julien Thevenon, Laurence Faivre, Christel Thauvin-Robinet
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. Clinical genetics 98 (1) (2020)
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thevenon, Ange-Line Bruel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Alice Goldenberg, Nathalie Le Meur, Aude Charollais, Cyril Mignot, Florence Petit, Massimiliano Rossi, Julia Metreau, Valérie Layet, Daniel Amram, Odile Boute-Bénéjean, Elizabeth Bhoj, Margot A Cousin, Teresa M Kruisselbrink, Brendan C Lanpher, Eric W Klee, Elise Fiala, Dorothy K Grange, Wendy S Meschino, Susan M Hiatt, Gregory M Cooper, Hilde Olivié, Wendy E Smith, Meghan Dumas, Anna Lehman, null null, Cara Inglese, Mathilde Nizon, Renzo Guerrini, Annalisa Vetro, Eitan S Kaplan, Dolores Miramar, Julien Van Gils, Patricia Fergelot, Olaf Bodamer, Johanna C Herkert, Sander Pajusalu, Katrin Õunap, James J Filiano, Thomas Smol, Amelie Piton, Bénédicte Gérard, Sandra Chantot-Bastaraud, Thierry Bienvenu, Dong Li, Jane Juusola, Koen Devriendt, Frederic Bilan, Charlotte Poé, Martin Chevarin, Thibaud Jouan, Emilie Tisserant, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Christophe Philippe, Yannis Duffourd, William B Dobyns, Robert F Hevner, Christel Thauvin-Robinet
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. European journal of human genetics : EJHG 28 (6) (2020)
Thierry Bienvenu, Nicolas Lebrun, Julia Clarke, Philibert Duriez, Philip Gorwood, Nicolas Ramoz
Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology. Journal of neural transmission (Vienna, Austria : 1996) 126 (11) (2019)
Agathe Boussaroque, Anne Bergougnoux, Caroline Raynal, Marie-Pierre Audrézet, Souphatta Sasorith, Claude Férec, Thierry Bienvenu, Emmanuelle Girodon
Pitfalls in the interpretation of CFTR variants in the context of incidental findings. Human mutation 40 (12) (2019)
Thierry Bienvenu, Nicolas Lebrun, Julia Clarke, Philibert Duriez, Philip Gorwood, Nicolas Ramoz
De novo deleterious variants that may alter the dopaminergic reward pathway are associated with anorexia nervosa. Eating and weight disorders : EWD 25 (6) (2019)
C Raynal, E Girodon, M P Audrezet, F Cabet, A Pagin, M P Reboul, F Dufernez, P Fergelot, A Bergougnoux, P Fanen, C Ferec, Thierry Bienvenu
CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma. The British journal of dermatology 181 (5) (2019)
Sarah Baer, A Afenjar, T Smol, A Piton, B Gérard, Y Alembik, Thierry Bienvenu, G Boursier, O Boute, C Colson, M-P Cordier, V Cormier-Daire, B Delobel, M Doco-Fenzy, B Duban-Bedu, M Fradin, D Geneviève, A Goldenberg, M Grelet, D Haye, D Heron, B Isidor, B Keren, D Lacombe, A-S Lèbre, G Lesca, A Masurel, M Mathieu-Dramard, C Nava, Laurent Pasquier, A Petit, N Philip, Juliette Piard, S Rondeau, P Saugier-Veber, S Sukno, J Thevenon, J Van-Gils, C Vincent-Delorme, M Willems, E Schaefer, G Morin
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. Clinical genetics 94 (1) (2018)
Léo Mietton, Nicolas Lebrun, Irina Giurgea, Alice Goldenberg, Benjamin Saintpierre, Juliette Hamroune, Alexandra Afenjar, Pierre Billuart, Thierry Bienvenu
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome. Neuromolecular medicine 20 (3) (2018)
Nicolas Lebrun, Irina Giurgea, Alice Goldenberg, Anne Dieux, Alexandra Afenjar, Jamal Ghoumid, Bertrand Diebold, Léo Mietton, Audrey Briand-Suleau, Pierre Billuart, Thierry Bienvenu
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome. European journal of human genetics : EJHG 26 (1) (2017)
N Lebrun, P Parent, J Gendras, P Billuart, K Poirier, Thierry Bienvenu
Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant. Clinical genetics 92 (6) (2017)
Mireille Claustres, Corinne Thèze, Marie des Georges, David Baux, Emmanuelle Girodon, Thierry Bienvenu, Marie-Pierre Audrezet, Ingrid Dugueperoux, Claude Férec, Guy Lalau, Adrien Pagin, Alain Kitzis, Vincent Thoreau, Véronique Gaston, Eric Bieth, Marie-Claire Malinge, Marie-Pierre Reboul, Patricia Fergelot, Lydie Lemonnier, Chadia Mekki, Pascale Fanen, Anne Bergougnoux, Souphatta Sasorith, Caroline Raynal, Corinne Bareil
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. Human mutation 38 (10) (2017)
Christopher T Gordon, Aude Tessier, Z Demir, A Goldenberg, M Oufadem, N Voisin, V Pingault, Thierry Bienvenu, S Lyonnet, L de Pontual, J Amiel
The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function. Clinical genetics 93 (2) (2017)
Karine Poirier, Laurence Hubert, Géraldine Viot, Marlène Rio, Pierre Billuart, Claude Besmond, Thierry Bienvenu
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy. Human mutation 38 (8) (2017)

Thierry Bienvenu.css-eqlu8i{font-size:small;padding-left:4px;} (T Bienvenu)

Publication Activity (10 Years)

Top Topics

Top Venues

Thierry Bienvenu (T Bienvenu)