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C

Claude Houdayer

ERN GENTURIS
H指数:31
被引数:5,172

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Hereditary cancer: Germline testing practices across ERN GENTURIS member countries

遗传性癌症：ERN GENTURIS成员国中的生殖细胞系检测实践

European Journal of Human Genetics
IF4.6
2026-06-090
OAAI
Milena Kiljańczyk; Zanda Daneberga; Mikk Tooming; Katarzyna Urbańczyk; Minna Pöyhönen; Tiina Kahre; Lenka Foretova; Emma Tham; Tamara Milagre; Béla Melegh; Maria K. Haanpää; Ana Blatnik; Katharina Wimmer; Robin de Putter; Karin Wadt; Claude Houdayer; Elke Holinski-Feder; Antonis Kattamis; Barbara Klink; Hildegunn Høberg-Vetti; Ignacio Blanco Guillermo; Nicoline Hoogerbrugge; Jan Lubiński
A functional assay to classify RB1 variants of uncertain significance

一种功能实验用于分类RB1不确定意义变异

Genetics in Medicine
IF6.2
2025-11-130
PRE
Jessica Le Gall; Catherine Dehainault; Ambre Petitalot; Elsa Amouyal; Jeanne Petitou; Sandrine M. Caputo; François Radvanyi; Alexandre Matet; Nathalie Cassoux; Livia Lumbroso-Le Rouic; Isabelle Aerts; François Doz; Marion Gauthier-Villars; Dominique Stoppa-Lyonnet; Claude Houdayer; Lisa Golmard; François Lallemand
Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis

通过简单、经济高效、高通量的RNA剪接分析弥合遗传性癌症的诊断差距

molecular diagnostics
IF0
2025-07-230
PRE
Julie Amiot; Corentin Levacher; Louise May Thibaut; Gwendoline Lienard; Stéphanie Vasseur; Olivier Quenez; Sophie Coutant; Steeve Fourneaux; Françoise Charbonnier; Hugo Thorn; Angélina Legros; Camille Aucouturier; Laurent Castéra; Raphaël Leman; Edwige Kasper; Stéphanie Baert-Desurmont; Sophie Krieger; Philippe Ruminy; Claude Houdayer
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)

PTEN错构瘤综合征（PHTS）中第二原发癌的风险

Genetics in Medicine
IF6.2
2025-05-240
OAAI
Linda A.J. Hendricks; Katja C.J. Verbeek; Janneke H.M. Schuurs-Hoeijmakers; Mirjam M. de Jong; Thera P. Links; Hilde Brems; Mio Aerden; Joan Brunet; Roser Lleuger-Pujol; Robert Hüneburg; Stefan Aretz; Chrystelle Colas; Marie-Charlotte Villy; Emma R. Woodward; D. Gareth Evans; Daniëlle G.M. Bosch; Stephany H. Donze; Lenka Foretová; Ana Blatnik; Edward M. Leter; Marc Tischkowitz; Arne Jahn; Robin de Putter; Juliette Dupont; Siri Briskemyr; Verena Steinke-Lange; Margherita Baldassarri; Violetta C. Anastasiadou; Arvīds Irmejs; Carla Oliveira; Rachel S. van der Post; Arjen R. Mensenkamp; Bianca Tesi; Ninni Mu; Patrick R. Benusiglio; Anna Gerasimenko; Giovanni Innella; Daniela Turchetti; Claude Houdayer; Maud Branchaud; Hildegunn Høberg Vetti; Marianne Tveit Haavind; Judith Balmaña; Maite Torres; Maurizio Genuardi; Arianna Panfili; Kjersti Jørgensen; Lovise Mæhle; Nicoline Hoogerbrugge; Janet R. Vos
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition

生殖系HPF1逆转录基因插入RB1基因参与癌症易感性

JOURNAL OF MEDICAL GENETICS
IF3.7
2023-08-040
PRE
Le Gall, Jessica; Dehainault, Catherine; Boutte, Matteo; Petitalot, Ambre; Caputo, Sandrine M.; Courtois, Laura; Vacher, Sophie; Bieche, Ivan; Radvanyi, Francois; Pacquement, Helene; Doz, Francois; Lumbroso-Le Rouic, Livia; Gauthier Villars, Marion; Stoppa-Lyonnet, Dominique; Lallemand, Francois; Houdayer, Claude; Golmard, Lisa
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
IF7.2
2022-09-2818
OA
Hendricks, Linda A. J.; Hoogerbrugge, Nicoline; Mensenkamp, Arjen R.; Brunet, Joan; Lleuger-Pujol, Roser; Hoberg-Vetti, Hildegunn; Tveit Haavind, Marianne; Innella, Giovanni; Turchetti, Daniela; Aretz, Stefan; Spier, Isabel; Tischkowitz, Marc; Jahn, Arne; Links, Thera P.; Olderode-Berends, Maran J. W.; Blatnik, Ana; Leter, Edward M.; Evans, D. Gareth; Woodward, Emma R.; Steinke-Lange, Verena; Anastasiadou, Violetta C.; Colas, Chrystelle; Villy, Marie-Charlotte; Benusiglio, Patrick R.; Gerasimenko, Anna; Barili, Valeria; Branchaud, Maud; Houdayer, Claude; Tesi, Bianca; Yazicioglu, M. Omer; van der Post, Rachel S.; Schuurs-Hoeijmakers, Janneke H. M.; Vos, Janet R.; van Hest, Liselotte P.; Adank, Muriel A.; Duijkers, Floor; Nielsen, Maartje; Verbeek, Katja C. J.; van Ierland, Yvette; Giltay, Jacques C.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
HUMAN GENETICS
IF3.6
2021-11-0818
PREAI
Coursimault, Juliette; Guerrot, Anne-Marie; Morrow, Michelle M.; Schramm, Catherine; Zamora, Francisca Millan; Shanmugham, Anita; Liu, Shuxi; Zou, Fanggeng; Bilan, Frederic; Le Guyader, Gwenael; Bruel, Ange-Line; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Mau-Them, Frederic Tran; Tessarech, Marine; Colin, Estelle; El Chehadeh, Salima; Gerard, Benedicte; Schaefer, Elise; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Doummar, Diane; Valence, Stephanie; Heron, Delphine; Keren, Boris; Mignot, Cyril; Coutton, Charles; Devillard, Francoise; Alaix, Anne-Sophie; Amiel, Jeanne; Colleaux, Laurence; Munnich, Arnold; Poirier, Karine; Rio, Marlene; Rondeau, Sophie; Barcia, Giulia; Callewaert, Bert; Dheedene, Annelies; Kumps, Candy; Vergult, Sarah; Menten, Bjoern; Chung, Wendy K.; Hernan, Rebecca; Larson, Austin; Nori, Kelly; Stewart, Sarah; Wheless, James; Kresge, Christina; Pletcher, Beth A.; Caumes, Roseline; Smol, Thomas; Sigaudy, Sabine; Coubes, Christine; Helm, Margaret; Smith, Rosemarie; Morrison, Jennifer; Wheeler, Patricia G.; Kritzer, Amy; Jouret, Guillaume; Afenjar, Alexandra; Deleuze, Jean-Francois; Olaso, Robert; Boland, Anne; Poitou, Christine; Frebourg, Thierry; Houdayer, Claude; Saugier-Veber, Pascale; Nicolas, Gael; Lecoquierre, Francois
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-10-0121
OAAI
Caputo, Sandrine M.; Golmard, Lisa; Leone, Melanie; Damiola, Francesca; Guillaud-Bataille, Marine; Revillion, Francoise; Rouleau, Etienne; Derive, Nicolas; Buisson, Adrien; Basset, Noemie; Schwartz, Mathias; Vilquin, Paul; Garrec, Celine; Privat, Maud; Gay-Bellile, Mathilde; Abadie, Caroline; Abidallah, Khadija; Airaud, Fabrice; Allary, Anne-Sophie; Barouk-Simonet, Emmanuelle; Belotti, Muriel; Benigni, Charlotte; Benusiglio, Patrick R.; Berthemin, Christelle; Berthet, Pascaline; Bertrand, Ophelie; Bezieau, Stephane; Bidart, Marie; Bignon, Yves-Jean; Birot, Anne-Marie; Blanluet, Maud; Bloucard, Amelie; Bombled, Johny; Bonadona, Valerie; Bonnet, Francoise; Bonnet-Dupeyron, Marie-Noelle; Boulaire, Manon; Boulouard, Flavie; Bouras, Ahmed; Bourdon, Violaine; Brahimi, Afane; Brayotel, Fanny; de Paillerets, Brigitte Bressac; Bronnec, Noemie; Bubien, Virginie; Buecher, Bruno; Cabaret, Odile; Carriere, Jennifer; Chiesa, Jean; Chieze-Valero, Stephanie; Cohen, Camille; Cohen-Haguenauer, Odile; Colas, Chrystelle; Collonge-Rame, Marie-Agnes; Conoy, Anne-Laure; Coulet, Florence; Coupier, Isabelle; Crivelli, Louise; Cusin, Veronica; De Pauw, Antoine; Dehainault, Catherine; Delhomelle, Helene; Delnatte, Capucine; Demontety, Sophie; Denizeau, Philippe; Devulder, Pierre; Dreyfus, Helene; D'Enghein, Catherine Dubois; Dupre, Anais; Durlach, Anne; Dussart, Sophie; Fajac, Anne; Fekairi, Samira; Fert-Ferrer, Sandra; Fievet, Alice; Fouillet, Robin; Mouret-Fourme, Emmanuelle; Gauthier-Villars, Marion; Gesta, Paul; Giraud, Sophie; Gladieff, Laurence; Goldbarg, Veronica; Goussot, Vincent; Guibert, Virginie; Guillerm, Erell; Guy, Christophe; Hardouin, Agnes; Heude, Celine; Houdayer, Claude; Ingster, Olivier; Jacquot-Sawka, Caroline; Jones, Natalie; Krieger, Sophie; Lacoste, Sofiane; Lallaoui, Hakima; Larbre, Helene; Lauge, Anthony; Le Guyadec, Gabrielle; Le Mentec, Marine; Lecerf, Caroline; Le Gall, Jessica; Legendre, Berengere; Legrand, Clementine; Legros, Angelina; Lejeune, Sophie; Lidereau, Rosette; Lignon, Norbert; Limacher, Jean-Marc; Livon, Doriane; Lizard, Sarab; Longy, Michel; Lortholary, Alain; Macquere, Pierre; Mailliez, Audrey; Malsa, Sarah; Margot, Henri; Mari, Veronique; Maugard, Christine; Meira, Cindy; Menjard, Julie; Moliere, Diane; Moncoutier, Virginie; Moretta-Serra, Jessica; Muller, Etienne; Neviere, Zoe; Tuan, Thien-vu Nguyen Minh; Noguchi, Tetsuro; Nogues, Catherine; Oca, Florine; Popovici, Cornel; Prieur, Fabienne; Raad, Sabine; Rey, Jean-Marc; Ricou, Agathe; Salle, Lucie; Saule, Claire; Sevenet, Nicolas; Simaga, Fatoumata; Sobol, Hagay; Suybeng, Voreak; Tennevet, Isabelle; Tenreiro, Henrique; Tinat, Julie; Toulas, Christine; Turbiez, Isabelle; Uhrhammer, Nancy; Vande Perre, Pierre; Vaur, Dominique; Venat, Laurence; Viellard, Nicolas; Villy, Marie-Charlotte; Warcoin, Mathilde; Yvard, Alice; Zattara, Helene; Caron, Olivier; Lasset, Christine; Remenieras, Audrey; Boutry-Kryza, Nadia; Castera, Laurent; Stoppa-Lyonnet, Dominique
A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression
NATURE COMMUNICATIONS
IF15.7
2021-09-2258
OAAI
Liu, Jing; Ottaviani, Daniela; Sefta, Meriem; Desbrousses, Celine; Chapeaublanc, Elodie; Aschero, Rosario; Sirab, Nanor; Lubieniecki, Fabiana; Lamas, Gabriela; Tonon, Laurie; Dehainault, Catherine; Hua, Clement; Freneaux, Paul; Reichman, Sacha; Karboul, Narjesse; Biton, Anne; Mirabal-Ortega, Liliana; Larcher, Magalie; Brulard, Celine; Arrufat, Sandrine; Nicolas, Andre; Elarouci, Nabila; Popova, Tatiana; Nemati, Fariba; Decaudin, Didier; Gentien, David; Baulande, Sylvain; Mariani, Odette; Dufour, Florent; Guibert, Sylvain; Vallot, Celine; Lumbroso-Le Rouic, Livia; Matet, Alexandre; Desjardins, Laurence; Pascual-Pasto, Guillem; Sunol, Mariona; Catala-Mora, Jaume; Llano, Genoveva Correa; Couturier, Jerome; Barillot, Emmanuel; Schaiquevich, Paula; Gauthier-Villars, Marion; Stoppa-Lyonnet, Dominique; Golmard, Lisa; Houdayer, Claude; Brisse, Herve; Bernard-Pierrot, Isabelle; Letouze, Eric; Viari, Alain; Saule, Simon; Sastre-Garau, Xavier; Doz, Francois; Carcaboso, Angel M.; Cassoux, Nathalie; Pouponnot, Celio; Goureau, Olivier; Chantada, Guillermo; de Reynies, Aurelien; Aerts, Isabelle; Radvanyi, Francois
Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis
EUROPEAN JOURNAL OF CANCER
IF7.1
2021-09-017
OAAI
Jimenez, Irene; Frouin, Eleonore; Chicard, Mathieu; Dehainault, Catherine; Le Gall, Jessica; Benoist, Camille; Gauthier, Arnaud; Lapouble, Eve; Houdayer, Claude; Radvanyi, Francois; Bernard, Virginie; Brisse, Herve J.; Gauthier-Villars, Marion; Stoppa-Lyonnet, Dominique; Baulande, Sylvain; Cassoux, Nathalie; Lumbroso, Livia; Matet, Alexandre; Aerts, Isabelle; Renault, Victor; Doz, Francois; Golmard, Lisa; Delattre, Olivier; Schleiermacher, Gudrun
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System
CANCER RESEARCH
IF16.6
2020-09-0219
OAAI
Tubeuf, Helene; Caputo, Sandrine M.; Sullivan, Teresa; Rondeaux, Julie; Krieger, Sophie; Caux-Moncoutier, Virginie; Hauchard, Julie; Castelain, Gaia; Fievet, Alice; Meulemans, Laetitia; Revillion, Francoise; Leone, Melanie; Boutry-Kryza, Nadia; Delnatte, Capucine; Guillaud-Bataille, Marine; Cleveland, Linda; Reid, Susan; Southon, Eileen; Soukarieh, Omar; Drouet, Aurelie; Di Giacomo, Daniela; Vezain, Myriam; Bonnet-Dorion, Francoise; Bourdon, Violaine; Larbre, Helene; Muller, Daniele; Pujol, Pascal; Vaz, Fatima; Audebert-Bellanger, Severine; Colas, Chrystelle; Venat-Bouvet, Laurence; Solano, Angela R.; Stoppa-Lyonnet, Dominique; Houdayer, Claude; Frebourg, Thierry; Gaildrat, Pascaline; Sharan, Shyam K.; Martins, Alexandra
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12
CANCER RESEARCH
IF16.6
2020-04-0218
OAAI
Meulemans, Laetitia; Mesman, Romy L. S.; Caputo, Sandrine M.; Krieger, Sophie; Guillaud-Bataille, Marine; Caux-Moncoutier, Virginie; Leone, Melanie; Boutry-Kryza, Nadia; Sokolowska, Johanna; Revillion, Francoise; Delnatte, Capucine; Tubeuf, Helene; Soukarieh, Omar; Bonnet-Dorion, Francoise; Guibert, Virginie; Bronner, Myriam; Bourdon, Violaine; Lizard, Sarab; Vilquin, Paul; Privat, Maud; Drouet, Aurelie; Grout, Charlotte; Calleja, Fabienne M. G. R.; Golmard, Lisa; Vrieling, Harry; Stoppa-Lyonnet, Dominique; Houdayer, Claude; Frebourg, Thierry; Vreeswijk, Maaike P. G.; Martins, Alexandra; Gaildrat, Pascaline
Feasibility of a nation-wide family-based study to assess cancer risks in families with a predicted pathogenic variant identified through hereditary breast and ovary multi-gene panel testing: The TUMOSPEC study
CANCER RESEARCH
IF16.6
2020-02-150
PRE
Caron, Olivier; Eon-Marchais, Severine; Bonnet-Boissinot, Sarah; Beauvallet, Juana; Dondon, Marie-Gabrielle; Colas, Chrystelle; Coulet, Florence; Delnatte, Capucine; Houdayer, Claude; Lasset, Christine; Lemonnier, Jerome; Longy, Michel; Nogues, Catherine; Stoppa-Lyonnet, Dominique; Vaur, Dominique; Lesueur, Fabienne; Andrieu, Nadine
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants
BMC GENOMICS
IF3.7
2020-01-2836
OAAI
Leman, Raphael; Tubeuf, Helene; Raad, Sabine; Tournier, Isabelle; Derambure, Celine; Lanos, Raphael; Gaildrat, Pascaline; Castelain, Gaia; Hauchard, Julie; Killian, Audrey; Baert-Desurmont, Stephanie; Legros, Angelina; Goardon, Nicolas; Quesnelle, Celine; Ricou, Agathe; Castera, Laurent; Vaur, Dominique; Le Gac, Gerald; Ka, Chandran; Fichou, Yann; Bonnet-Dorion, Francoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Boutry-Kryza, Nadia; Schultz, Ines; Caux-Moncoutier, Virginie; Rossing, Maria; Walker, Logan C.; Spurdle, Amanda B.; Houdayer, Claude; Martins, Alexandra; Krieger, Sophie
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018)
NUCLEIC ACIDS RESEARCH
IF13.1
2019-12-216
OAAI
Leman, Raphael; Gaildrat, Pascaline; Le Gac, Gerald; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M.; Boutry-Kryza, Nadia; Leone, Melanie; Mazoyer, Sylvie; Bonnet-Dorion, Francoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bressac-de Paillerets, Brigitte; Wappenschmidt, Barbara; Rossing, Maria; Muller, Danielle; Bourdon, Violaine; Revillon, Francoise; Parsons, Michael T.; Rousselin, Antoine; Davy, Gregoire; Castelain, Gaia; Castera, Laurent; Sokolowska, Joanna; Coulet, Florence; Delnatte, Capucine; Ferec, Claude; Spurdle, Amanda B.; Martins, Alexandra; Krieger, Sophie; Houdayer, Claude

研究方向

暂未获取到该数据
D
Dominique Stoppa‐Lyonnet
H 指数:83论文数:659被引数:3.4万
C
Catherine Dehainault
H 指数:18论文数:28被引数:1,104
M
Marion Gauthier‐Villars
H 指数:41论文数:215被引数:7,329
L
Laurent Castéra
H 指数:31论文数:141被引数:3,714
V
Virginie Caux‐Moncoutier
H 指数:24论文数:80被引数:3,600
F
François Doz
H 指数:73论文数:578被引数:1.9万
S
Sophie Krieger
H 指数:29论文数:129被引数:3,110
S
Sandrine M. Caputo
H 指数:29论文数:136被引数:2,660
A
Amanda B. Spurdle
H 指数:95论文数:816被引数:4.0万
L
Lisa Golmard
H 指数:29论文数:139被引数:3,073