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Stéphane Bezieau
chu de nantes
62H-index
401Paper Count
1.3WCitation Count
Published Papers 167
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.png)
Nature Genetics.png)
2026-03-30
0
OAAI
Elsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
Nature GeneticsIF29
2026-03-300OAAIElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava.png){kind=icon}
Share.png){kind=icon}
SaveDe novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disordersNature Communications2026-01-230
OAAIKevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. Bernard
Nature CommunicationsIF15.7
2026-01-230OAAIKevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. BernardShareSaveInvestigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesNature Communications2025-11-260OAAISébastien 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
Nature CommunicationsIF15.7
2025-11-260OAAISébastien 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 KrügerShareSavePERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in FranceBMJ OPEN2025-10-231OAAILevel, Camille; Thauvin-Robinet, Christel; Binquet, Christine; Duffourd, Yannis; Davoine, Emeline; Chevarin, Martin; Tran-Mau-Them, Frederic; Lemaitre, Margot; Bruel, Ange-Line; Safraou, Hana; Salvi, Dominique; Tisserant, Emilie; Lecommandeur, Emmanuelle; Charreton, Amandine; Hassine, Amir; de Tayrac, Marie; Redon, Richard; Barc, Julien; Schmitt, Sebatien; Piard, Juliette; Kuentz, Paul; Cormier, Coline; Malbos, Marlene; Racine, Caroline; Chabrol, Brigitte; Cheillan, David; Tardy, Veronique; Colin, Estelle; Bris, Celine; Mercier, Sandra; Nizon, Mathilde; Gaudillat, Lea; Loizeau, Virginie; Lenelle, Camille; Mottet, Nicolas; Simon, Emmanuel; Arnoux, Jean-Baptiste; Carpentier, Maud; Renaud, Catherine; Ziegler, Alban; Lejeune, Catherine; Jannot, Anne-Sophie; Asensio, Marie-Laure; Rollier, Paul; Odent, Sylvie; Bezieau, Stephane; Pasquier, Laurent; Huet, Frederic; Faivre, Laurence
BMJ OPENIF2.3
2025-10-231OAAILevel, Camille; Thauvin-Robinet, Christel; Binquet, Christine; Duffourd, Yannis; Davoine, Emeline; Chevarin, Martin; Tran-Mau-Them, Frederic; Lemaitre, Margot; Bruel, Ange-Line; Safraou, Hana; Salvi, Dominique; Tisserant, Emilie; Lecommandeur, Emmanuelle; Charreton, Amandine; Hassine, Amir; de Tayrac, Marie; Redon, Richard; Barc, Julien; Schmitt, Sebatien; Piard, Juliette; Kuentz, Paul; Cormier, Coline; Malbos, Marlene; Racine, Caroline; Chabrol, Brigitte; Cheillan, David; Tardy, Veronique; Colin, Estelle; Bris, Celine; Mercier, Sandra; Nizon, Mathilde; Gaudillat, Lea; Loizeau, Virginie; Lenelle, Camille; Mottet, Nicolas; Simon, Emmanuel; Arnoux, Jean-Baptiste; Carpentier, Maud; Renaud, Catherine; Ziegler, Alban; Lejeune, Catherine; Jannot, Anne-Sophie; Asensio, Marie-Laure; Rollier, Paul; Odent, Sylvie; Bezieau, Stephane; Pasquier, Laurent; Huet, Frederic; Faivre, LaurenceShareSaveDe Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder2025-09-011Bradbrook, Samuel M.; Graham, Gail; Carter, Melissa T.; Kibaek, Maria; Fagerberg, Christina; Larsen, Martin J.; Dawson, Katherine; Meuter, Cheryl; Pepler, Alexander; Besnard, Thomas; Vincent, Marie; Isidor, Bertrand; Bezieau, Stephane; Cogne, Benjamin; Bjorgo, Kathrine; Amundsen, Silja Svanstrom; Courtin, Thomas; Emrick, Lisa; Rosenfeld, Jill A.; Weisz-Hubshman, Monika; Mak, Bryan C.; Martinez-Agosto, Julian; Heulin, Mathilde; Morin, Gilles; Keren, Boris; Schutz, Sacha; Monin, Pauline; Pujalte, Mathilde; Januel, Louis; Lesca, Gaetan; Valence, Marie Noelle Bonnet Dupeyron; Margot, Henri; Levy, Jonathan; Iovino, Emmanuela; Isidori, Federica; Pippucci, Tommaso; Montanari, Francesca; Bell, Lauren; Burton, Jennifer; Torti, Erin; Wentzensen, Ingrid M.; Marcadier, Julien
2025-09-011PREAI
Bradbrook, Samuel M.; Graham, Gail; Carter, Melissa T.; Kibaek, Maria; Fagerberg, Christina; Larsen, Martin J.; Dawson, Katherine; Meuter, Cheryl; Pepler, Alexander; Besnard, Thomas; Vincent, Marie; Isidor, Bertrand; Bezieau, Stephane; Cogne, Benjamin; Bjorgo, Kathrine; Amundsen, Silja Svanstrom; Courtin, Thomas; Emrick, Lisa; Rosenfeld, Jill A.; Weisz-Hubshman, Monika; Mak, Bryan C.; Martinez-Agosto, Julian; Heulin, Mathilde; Morin, Gilles; Keren, Boris; Schutz, Sacha; Monin, Pauline; Pujalte, Mathilde; Januel, Louis; Lesca, Gaetan; Valence, Marie Noelle Bonnet Dupeyron; Margot, Henri; Levy, Jonathan; Iovino, Emmanuela; Isidori, Federica; Pippucci, Tommaso; Montanari, Francesca; Bell, Lauren; Burton, Jennifer; Torti, Erin; Wentzensen, Ingrid M.; Marcadier, JulienShareSaveUbiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-upeBioMedicine2025-08-200Virginie Vignard; Mike Maillasson; Anne Bigot; Sébastien Küry; Thomas Besnard; Martin Broly; Aurélie Guého; Emmanuelle Com; Erica Davis; Wallid Deb; Laëtitia Florenceau; Karen Sobriel; Grégoire Ménard; Betty Gardie; Alice Goldenberg; Joseph Porrmann; Randal Richardson; Léa Ruffier; Smail Hadj-Rabia; Stéphane Bézieau; Sébastien Barbarot; Frédéric Ebstein; Sandra Mercier
eBioMedicineIF10.8
2025-08-200PREAI
Virginie Vignard; Mike Maillasson; Anne Bigot; Sébastien Küry; Thomas Besnard; Martin Broly; Aurélie Guého; Emmanuelle Com; Erica Davis; Wallid Deb; Laëtitia Florenceau; Karen Sobriel; Grégoire Ménard; Betty Gardie; Alice Goldenberg; Joseph Porrmann; Randal Richardson; Léa Ruffier; Smail Hadj-Rabia; Stéphane Bézieau; Sébastien Barbarot; Frédéric Ebstein; Sandra MercierShareSaveRole of CAMK2D in neurodevelopment and associated conditions2025-08-110Pomme M.F. Rigter; Charlotte de Konink; Matthew J. Dunn; Martina Proietti Onori; Jennifer B. Humberson; Matthew Thomas; Caitlin Barnes; Carlos E. Prada; K. Nicole Weaver; Thomas D. Ryan; Oana Caluseriu; Jennifer Conway; Emily Calamaro; Chin-To Fong; Wim Wuyts; Marije Meuwissen; Eva Hordijk; Carsten N. Jonkers; Lucas Anderson; Berfin Yuseinova; Sarah Polonia; Diane Beysen; Zornitza Stark; Elena Savva; Cathryn Poulton; Fiona McKenzie; Elizabeth Bhoj; Caleb P. Bupp; Stéphane Bézieau; Sandra Mercier; Amy Blevins; Ingrid M. Wentzensen; Fan Xia; Jill A. Rosenfeld; Tzung-Chien Hsieh; Peter M. Krawitz; Miriam Elbracht; Danielle C.M. Veenma; Howard Schulman; Margaret M. Stratton; Sébastien Küry; Geeske M. van Woerden
2025-08-110PREAI
Pomme M.F. Rigter; Charlotte de Konink; Matthew J. Dunn; Martina Proietti Onori; Jennifer B. Humberson; Matthew Thomas; Caitlin Barnes; Carlos E. Prada; K. Nicole Weaver; Thomas D. Ryan; Oana Caluseriu; Jennifer Conway; Emily Calamaro; Chin-To Fong; Wim Wuyts; Marije Meuwissen; Eva Hordijk; Carsten N. Jonkers; Lucas Anderson; Berfin Yuseinova; Sarah Polonia; Diane Beysen; Zornitza Stark; Elena Savva; Cathryn Poulton; Fiona McKenzie; Elizabeth Bhoj; Caleb P. Bupp; Stéphane Bézieau; Sandra Mercier; Amy Blevins; Ingrid M. Wentzensen; Fan Xia; Jill A. Rosenfeld; Tzung-Chien Hsieh; Peter M. Krawitz; Miriam Elbracht; Danielle C.M. Veenma; Howard Schulman; Margaret M. Stratton; Sébastien Küry; Geeske M. van WoerdenShareSaveAcid Ceramidase DeficiencyNEUROLOGY-GENETICS2025-04-010Cuinat, 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
NEUROLOGY-GENETICSIF3.7
2025-04-010PREAI
Cuinat, 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, OdileShareSaveHeterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual DisabilityHUMAN MUTATION2025-01-010OAAICordovado, Amelie; Herenger, Yvan; Cormier, Coline; Lopez-Martin, Estrella; Stamberger, Hannah; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Abdallah, Hamza Hadj; Barcia, Giulia; Courtin, Thomas; Martinez-Delgado, Beatriz; Bermejo-Sanchez, Eva; Barrero, Maria J.; Gasser, Brooklynn; Bezieau, Stephane; Kury, Sebastien; Weckhuysen, Sarah; Laumonnier, Frederic; Toutain, Annick; Vuillaume, Marie-Laure
HUMAN MUTATIONIF3.7
2025-01-010OAAICordovado, Amelie; Herenger, Yvan; Cormier, Coline; Lopez-Martin, Estrella; Stamberger, Hannah; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Abdallah, Hamza Hadj; Barcia, Giulia; Courtin, Thomas; Martinez-Delgado, Beatriz; Bermejo-Sanchez, Eva; Barrero, Maria J.; Gasser, Brooklynn; Bezieau, Stephane; Kury, Sebastien; Weckhuysen, Sarah; Laumonnier, Frederic; Toutain, Annick; Vuillaume, Marie-LaureShareSaveIdentification of Hepatic-like Erythropoietin with Enhanced Activity As a New Cause of Hereditary and Acquired ErythrocytosisBLOOD2024-11-250Martin, Laurent; Maric, Darko; Idriss, Salam; Delamare, Marine; Le Roy, Amandine; Maaziz, Nada; Caillaud, Amandine; Si-Tayeb, Karim; Robriquet, Florence; Lenglet, Marion; Erceau, Lucie; Bellanne-Chantelot, Christine; Plo, Isabelle; Aral, Bernard; Garrec, Celine; Airaud, Fabrice; Gianfermi, Clara; Antunes, Vincent; Keppner, Anna; Vincent, Sarah Mathilda; Desfontaine, Alexis; Mode, Nina; Laporte, Fabien; Gaignerie, Anne; Chariau, Caroline; Leray, Isabelle; Rogue, Coline; David, Laurent; Redon, Richard; Bezieau, Stephane; Mansour, Lamisse; Galacteros, Frederic; Maillet, Thibault; Pasquet, Marlene; Cougoul, Pierre; Nloga, Anne-Marie; Gardin, Claude; Guitton, Corinne; Dubruille, Viviane; Giacobbi-Milet, Vannina; Leblanc, Thierry; Kaya, Zuhre; Semama, Denis; James, Chloe; Carillo, Serge; Ochmann, Marlene; Waage, Anders; Mortier, Erwan; Maillasson, Mike; Quemener, Agnes; Cario, Holger; Skoda, Radek C.; Zermati, Yael; Hoogewijs, David; Marchand, Alexandre; Girodon, Francois; Gardie, Betty
BLOODIF23.1
2024-11-250PREAI
Martin, Laurent; Maric, Darko; Idriss, Salam; Delamare, Marine; Le Roy, Amandine; Maaziz, Nada; Caillaud, Amandine; Si-Tayeb, Karim; Robriquet, Florence; Lenglet, Marion; Erceau, Lucie; Bellanne-Chantelot, Christine; Plo, Isabelle; Aral, Bernard; Garrec, Celine; Airaud, Fabrice; Gianfermi, Clara; Antunes, Vincent; Keppner, Anna; Vincent, Sarah Mathilda; Desfontaine, Alexis; Mode, Nina; Laporte, Fabien; Gaignerie, Anne; Chariau, Caroline; Leray, Isabelle; Rogue, Coline; David, Laurent; Redon, Richard; Bezieau, Stephane; Mansour, Lamisse; Galacteros, Frederic; Maillet, Thibault; Pasquet, Marlene; Cougoul, Pierre; Nloga, Anne-Marie; Gardin, Claude; Guitton, Corinne; Dubruille, Viviane; Giacobbi-Milet, Vannina; Leblanc, Thierry; Kaya, Zuhre; Semama, Denis; James, Chloe; Carillo, Serge; Ochmann, Marlene; Waage, Anders; Mortier, Erwan; Maillasson, Mike; Quemener, Agnes; Cario, Holger; Skoda, Radek C.; Zermati, Yael; Hoogewijs, David; Marchand, Alexandre; Girodon, Francois; Gardie, BettyShareSaveHereditary Erythrocytosis: Results from Europe's Largest Idiopathic Erythrocytosis DatabaseBLOOD2024-11-050Maaziz, Nada; Jaillard, Mathilde; Garrec, Celine; Airaud, Fabrice; Aral, Bernard; Bezieau, Stephane; Gardie, Betty; Girodon, Francois
BLOODIF23.1
2024-11-050PREAI
Maaziz, Nada; Jaillard, Mathilde; Garrec, Celine; Airaud, Fabrice; Aral, Bernard; Bezieau, Stephane; Gardie, Betty; Girodon, FrancoisShareSaveUnderstanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectivesGENES & DISEASES2024-11-012OAAICuinat, Silvestre; Bezieau, Stephane; Deb, Wallid; Mercier, Sandra; Vignard, Virginie; Isidor, Bertrand; Kury, Sebastien; Ebstein, Frederic
GENES & DISEASESIF9.4
2024-11-012OAAICuinat, Silvestre; Bezieau, Stephane; Deb, Wallid; Mercier, Sandra; Vignard, Virginie; Isidor, Bertrand; Kury, Sebastien; Ebstein, FredericShareSaveNeurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene2024-10-241Ganesh, Vijay S.; Riquin, Kevin; Chatron, Nicolas; Yoon, Esther; Lamar, Kay-Marie; Aziz, Miriam C.; Monin, Pauline; O'Leary, Melanie C.; Goodrich, Julia K.; Garimella, Kiran V.; England, Eleina; Weisburd, Ben; Aguet, Francois; Bacino, Carlos A.; Murdock, David R.; Dai, Hongzheng; Rosenfeld, Jill A.; Emrick, Lisa T.; Ketkar, Shamika; Sarusi, Yael; Sanlaville, Damien; Kayani, Saima; Broadbent, Brian; Pengam, Alisee; Isidor, Bertrand; Bezieau, Stephane; Cogne, Benjamin; Macarthur, Daniel G.; Ulitsky, Igor; Carvill, Gemma L.; O'Donnell-Luria, Anne
2024-10-241PREAI
Ganesh, Vijay S.; Riquin, Kevin; Chatron, Nicolas; Yoon, Esther; Lamar, Kay-Marie; Aziz, Miriam C.; Monin, Pauline; O'Leary, Melanie C.; Goodrich, Julia K.; Garimella, Kiran V.; England, Eleina; Weisburd, Ben; Aguet, Francois; Bacino, Carlos A.; Murdock, David R.; Dai, Hongzheng; Rosenfeld, Jill A.; Emrick, Lisa T.; Ketkar, Shamika; Sarusi, Yael; Sanlaville, Damien; Kayani, Saima; Broadbent, Brian; Pengam, Alisee; Isidor, Bertrand; Bezieau, Stephane; Cogne, Benjamin; Macarthur, Daniel G.; Ulitsky, Igor; Carvill, Gemma L.; O'Donnell-Luria, AnneShareSaveLoss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderANNALS OF NEUROLOGY2024-09-202Blackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun
ANNALS OF NEUROLOGYIF7.7
2024-09-202PREAI
Blackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, TianyunShareSavePSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response2024-07-013OAAIDeb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Moeller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogne, Benjamin; Besnard, Thomas; Ruffier, Lea; Toutain, Berenice; Poirier, Lea; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrinardottir, Hildigunnur; Friariksdottir, Run; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P. A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, Francois V.; Bezieau, Stephane; Kruger, Elke; Kury, Sebastien; Ebstein, Frederic
2024-07-013OAAIDeb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Moeller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogne, Benjamin; Besnard, Thomas; Ruffier, Lea; Toutain, Berenice; Poirier, Lea; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrinardottir, Hildigunnur; Friariksdottir, Run; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P. A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, Francois V.; Bezieau, Stephane; Kruger, Elke; Kury, Sebastien; Ebstein, FredericShareSaveBiallelic USP14 variants cause a syndromic neurodevelopmental disorderGENETICS IN MEDICINE2024-06-010OAAIEbstein, Frederic; Latypova, Xenia; Hung, Ka Ying Sharon; Prado, Miguel A.; Lee, Byung-Hoon; Moeller, Sophie; Wendlandt, Martin; Zieba, Barbara A.; Florenceau, Laetitia; Vignard, Virginie; Poirier, Lea; Toutain, Berenice; Moroni, Isabella; Dubucs, Charlotte; Chassaing, Nicolas; Horvath, Judit; Prokisch, Holger; Kury, Sebastien; Bezieau, Stephane; Paulo, Joao A.; Finley, Daniel; Krueger, Elke; Ghezzi, Daniele; Isidor, Bertrand
GENETICS IN MEDICINEIF6.2
2024-06-010OAAIEbstein, Frederic; Latypova, Xenia; Hung, Ka Ying Sharon; Prado, Miguel A.; Lee, Byung-Hoon; Moeller, Sophie; Wendlandt, Martin; Zieba, Barbara A.; Florenceau, Laetitia; Vignard, Virginie; Poirier, Lea; Toutain, Berenice; Moroni, Isabella; Dubucs, Charlotte; Chassaing, Nicolas; Horvath, Judit; Prokisch, Holger; Kury, Sebastien; Bezieau, Stephane; Paulo, Joao A.; Finley, Daniel; Krueger, Elke; Ghezzi, Daniele; Isidor, BertrandShareSaveGenome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancerEBIOMEDICINE2024-06-011OAAIPapadimitriou, Nikos; Kim, Andre; Kawaguchi, Eric S.; Morrison, John; Diez-Obrero, Virginia; Albanes, Demetrius; Berndt, Sonja I.; Bezieau, Stephane; Bien, Stephanie A.; Bishop, D. Timothy; Bouras, Emmanouil; Brenner, Hermann; Buchanan, Daniel D.; Campbell, Peter T.; Carreras-Torres, Robert; Chan, Andrew T.; Chang-Claude, Jenny; Conti, David, V; Devall, Matthew A.; Dimou, Niki; Drew, David A.; Gruber, Stephen B.; Harrison, Tabitha A.; Hoffmeister, Michael; Huyghe, Jeroen R.; Joshi, Amit D.; Keku, Temitope O.; Kundaje, Anshul; Kury, Sebastien; Le Marchand, Loic; Lewinger, Juan Pablo; Li, Li; Lynch, Brigid M.; Moreno, Victor; Newton, Christina C.; Obon-Santacana, Mireia; Ose, Jennifer; Pellatt, Andrew J.; Peoples, Anita R.; Platz, Elizabeth A.; Qu, Conghui; Rennert, Gad; Ruiz-Narvaez, Edward; Shcherbina, Anna; Stern, Mariana C.; Su, Yu-Ru; Thomas, Duncan C.; Thomas, Claire E.; Tian, Yu; Tsilidis, Konstantinos K.; Ulrich, Cornelia M.; Um, Caroline Y.; Visvanathan, Kala; Wang, Jun; White, Emily; Woods, Michael O.; Schmit, Stephanie L.; Macrae, Finlay; Potter, John D.; Hopper, John L.; Peters, Ulrike; Murphy, Neil; Hsu, Li; Gunter, Marc J.; Gauderman, W. James
EBIOMEDICINEIF10.8
2024-06-011OAAIPapadimitriou, Nikos; Kim, Andre; Kawaguchi, Eric S.; Morrison, John; Diez-Obrero, Virginia; Albanes, Demetrius; Berndt, Sonja I.; Bezieau, Stephane; Bien, Stephanie A.; Bishop, D. Timothy; Bouras, Emmanouil; Brenner, Hermann; Buchanan, Daniel D.; Campbell, Peter T.; Carreras-Torres, Robert; Chan, Andrew T.; Chang-Claude, Jenny; Conti, David, V; Devall, Matthew A.; Dimou, Niki; Drew, David A.; Gruber, Stephen B.; Harrison, Tabitha A.; Hoffmeister, Michael; Huyghe, Jeroen R.; Joshi, Amit D.; Keku, Temitope O.; Kundaje, Anshul; Kury, Sebastien; Le Marchand, Loic; Lewinger, Juan Pablo; Li, Li; Lynch, Brigid M.; Moreno, Victor; Newton, Christina C.; Obon-Santacana, Mireia; Ose, Jennifer; Pellatt, Andrew J.; Peoples, Anita R.; Platz, Elizabeth A.; Qu, Conghui; Rennert, Gad; Ruiz-Narvaez, Edward; Shcherbina, Anna; Stern, Mariana C.; Su, Yu-Ru; Thomas, Duncan C.; Thomas, Claire E.; Tian, Yu; Tsilidis, Konstantinos K.; Ulrich, Cornelia M.; Um, Caroline Y.; Visvanathan, Kala; Wang, Jun; White, Emily; Woods, Michael O.; Schmit, Stephanie L.; Macrae, Finlay; Potter, John D.; Hopper, John L.; Peters, Ulrike; Murphy, Neil; Hsu, Li; Gunter, Marc J.; Gauderman, W. JamesShareSaveFine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genesNATURE COMMUNICATIONS2024-04-264OAAIChen, Zhishan; Guo, Xingyi; Tao, Ran; Huyghe, Jeroen R.; Law, Philip J.; Fernandez-Rozadilla, Ceres; Ping, Jie; Jia, Guochong; Long, Jirong; Li, Chao; Shen, Quanhu; Xie, Yuhan; Timofeeva, Maria N.; Thomas, Minta; Schmit, Stephanie L.; Diez-Obrero, Virginia; Devall, Matthew; Moratalla-Navarro, Ferran; Fernandez-Tajes, Juan; Palles, Claire; Sherwood, Kitty; Briggs, Sarah E. W.; Svinti, Victoria; Donnelly, Kevin; Farrington, Susan M.; Blackmur, James; Vaughan-Shaw, Peter G.; Shu, Xiao-Ou; Lu, Yingchang; Broderick, Peter; Studd, James; Harrison, Tabitha A.; Conti, David V.; Schumacher, Fredrick R.; Melas, Marilena; Rennert, Gad; Obon-Santacana, Mireia; Martin-Sanchez, Vicente; Oh, Jae Hwan; Kim, Jeongseon; Jee, Sun Ha; Jung, Keum Ji; Kweon, Sun-Seog; Shin, Min-Ho; Shin, Aesun; Ahn, Yoon-Ok; Kim, Dong-Hyun; Oze, Isao; Wen, Wanqing; Matsuo, Keitaro; Matsuda, Koichi; Tanikawa, Chizu; Ren, Zefang; Gao, Yu-Tang; Jia, Wei-Hua; Hopper, John L.; Jenkins, Mark A.; Win, Aung Ko; Pai, Rish K.; Figueiredo, Jane C.; Haile, Robert W.; Gallinger, Steven; Woods, Michael O.; Newcomb, Polly A.; Duggan, David; Cheadle, Jeremy P.; Kaplan, Richard; Kerr, Rachel; Kerr, David; Kirac, Iva; Bohm, Jan; Mecklin, Jukka-Pekka; Jousilahti, Pekka; Knekt, Paul; Aaltonen, Lauri A.; Rissanen, Harri; Pukkala, Eero; Eriksson, Johan G.; Cajuso, Tatiana; Hanninen, Ulrika; Kondelin, Johanna; Palin, Kimmo; Tanskanen, Tomas; Renkonen-Sinisalo, Laura; Mannisto, Satu; Albanes, Demetrius; Weinstein, Stephanie J.; Ruiz-Narvaez, Edward; Palmer, Julie R.; Buchanan, Daniel D.; Platz, Elizabeth A.; Visvanathan, Kala; Ulrich, Cornelia M.; Siegel, Erin; Brezina, Stefanie; Gsur, Andrea; Campbell, Peter T.; Chang-Claude, Jenny; Hoffmeister, Michael; Brenner, Hermann; Slattery, Martha L.; Potter, John D.; Tsilidis, Kostas K.; Schulze, Matthias B.; Gunter, Marc J.; Murphy, Neil; Castells, Antoni; Castellvi-Bel, Sergi; Moreira, Leticia; Arndt, Volker; Shcherbina, Anna; Bishop, D. Timothy; Giles, Graham G.; Southey, Melissa C.; Idos, Gregory E.; McDonnell, Kevin J.; Abu-Ful, Zomoroda; Greenson, Joel K.; Shulman, Katerina; Lejbkowicz, Flavio; Offit, Kenneth; Su, Yu-Ru; Steinfelder, Robert; Keku, Temitope O.; van Guelpen, Bethany; Hudson, Thomas J.; Hampel, Heather; Pearlman, Rachel; Berndt, Sonja I.; Hayes, Richard B.; Martinez, Marie Elena; Thomas, Sushma S.; Pharoah, Paul D. P.; Larsson, Susanna C.; Yen, Yun; Lenz, Heinz-Josef; White, Emily; Li, Li; Doheny, Kimberly F.; Pugh, Elizabeth; Shelford, Tameka; Chan, Andrew T.; Cruz-Correa, Marcia; Lindblom, Annika; Hunter, David J.; Joshi, Amit D.; Schafmayer, Clemens; Scacheri, Peter C.; Kundaje, Anshul; Schoen, Robert E.; Hampe, Jochen; Stadler, Zsofia K.; Vodicka, Pavel; Vodickova, Ludmila; Vymetalkova, Veronika; Edlund, Christopher K.; Gauderman, W. James; Shibata, David; Toland, Amanda; Markowitz, Sanford; Kim, Andre; Chanock, Stephen J.; van Duijnhoven, Franzel; Feskens, Edith J. M.; Sakoda, Lori C.; Gago-Dominguez, Manuela; Wolk, Alicja; Pardini, Barbara; FitzGerald, Liesel M.; Lee, Soo Chin; Ogino, Shuji; Bien, Stephanie A.; Kooperberg, Charles; Li, Christopher I.; Lin, Yi; Prentice, Ross; Qu, Conghui; Bezieau, Stephane; Yamaji, Taiki; Sawada, Norie; Iwasaki, Motoki; Le Marchand, Loic; Wu, Anna H.; Qu, Chenxu; McNeil, Caroline E.; Coetzee, Gerhard; Hayward, Caroline; Deary, Ian J.; Harris, Sarah E.; Theodoratou, Evropi; Reid, Stuart; Walker, Marion; Ooi, Li Yin; Lau, Ken S.; Zhao, Hongyu; Hsu, Li; Cai, Qiuyin; Dunlop, Malcolm G.; Gruber, Stephen B.; Houlston, Richard S.; Moreno, Victor; Casey, Graham; Peters, Ulrike; Tomlinson, Ian; Zheng, Wei
NATURE COMMUNICATIONSIF15.7
2024-04-264OAAIChen, Zhishan; Guo, Xingyi; Tao, Ran; Huyghe, Jeroen R.; Law, Philip J.; Fernandez-Rozadilla, Ceres; Ping, Jie; Jia, Guochong; Long, Jirong; Li, Chao; Shen, Quanhu; Xie, Yuhan; Timofeeva, Maria N.; Thomas, Minta; Schmit, Stephanie L.; Diez-Obrero, Virginia; Devall, Matthew; Moratalla-Navarro, Ferran; Fernandez-Tajes, Juan; Palles, Claire; Sherwood, Kitty; Briggs, Sarah E. W.; Svinti, Victoria; Donnelly, Kevin; Farrington, Susan M.; Blackmur, James; Vaughan-Shaw, Peter G.; Shu, Xiao-Ou; Lu, Yingchang; Broderick, Peter; Studd, James; Harrison, Tabitha A.; Conti, David V.; Schumacher, Fredrick R.; Melas, Marilena; Rennert, Gad; Obon-Santacana, Mireia; Martin-Sanchez, Vicente; Oh, Jae Hwan; Kim, Jeongseon; Jee, Sun Ha; Jung, Keum Ji; Kweon, Sun-Seog; Shin, Min-Ho; Shin, Aesun; Ahn, Yoon-Ok; Kim, Dong-Hyun; Oze, Isao; Wen, Wanqing; Matsuo, Keitaro; Matsuda, Koichi; Tanikawa, Chizu; Ren, Zefang; Gao, Yu-Tang; Jia, Wei-Hua; Hopper, John L.; Jenkins, Mark A.; Win, Aung Ko; Pai, Rish K.; Figueiredo, Jane C.; Haile, Robert W.; Gallinger, Steven; Woods, Michael O.; Newcomb, Polly A.; Duggan, David; Cheadle, Jeremy P.; Kaplan, Richard; Kerr, Rachel; Kerr, David; Kirac, Iva; Bohm, Jan; Mecklin, Jukka-Pekka; Jousilahti, Pekka; Knekt, Paul; Aaltonen, Lauri A.; Rissanen, Harri; Pukkala, Eero; Eriksson, Johan G.; Cajuso, Tatiana; Hanninen, Ulrika; Kondelin, Johanna; Palin, Kimmo; Tanskanen, Tomas; Renkonen-Sinisalo, Laura; Mannisto, Satu; Albanes, Demetrius; Weinstein, Stephanie J.; Ruiz-Narvaez, Edward; Palmer, Julie R.; Buchanan, Daniel D.; Platz, Elizabeth A.; Visvanathan, Kala; Ulrich, Cornelia M.; Siegel, Erin; Brezina, Stefanie; Gsur, Andrea; Campbell, Peter T.; Chang-Claude, Jenny; Hoffmeister, Michael; Brenner, Hermann; Slattery, Martha L.; Potter, John D.; Tsilidis, Kostas K.; Schulze, Matthias B.; Gunter, Marc J.; Murphy, Neil; Castells, Antoni; Castellvi-Bel, Sergi; Moreira, Leticia; Arndt, Volker; Shcherbina, Anna; Bishop, D. Timothy; Giles, Graham G.; Southey, Melissa C.; Idos, Gregory E.; McDonnell, Kevin J.; Abu-Ful, Zomoroda; Greenson, Joel K.; Shulman, Katerina; Lejbkowicz, Flavio; Offit, Kenneth; Su, Yu-Ru; Steinfelder, Robert; Keku, Temitope O.; van Guelpen, Bethany; Hudson, Thomas J.; Hampel, Heather; Pearlman, Rachel; Berndt, Sonja I.; Hayes, Richard B.; Martinez, Marie Elena; Thomas, Sushma S.; Pharoah, Paul D. P.; Larsson, Susanna C.; Yen, Yun; Lenz, Heinz-Josef; White, Emily; Li, Li; Doheny, Kimberly F.; Pugh, Elizabeth; Shelford, Tameka; Chan, Andrew T.; Cruz-Correa, Marcia; Lindblom, Annika; Hunter, David J.; Joshi, Amit D.; Schafmayer, Clemens; Scacheri, Peter C.; Kundaje, Anshul; Schoen, Robert E.; Hampe, Jochen; Stadler, Zsofia K.; Vodicka, Pavel; Vodickova, Ludmila; Vymetalkova, Veronika; Edlund, Christopher K.; Gauderman, W. James; Shibata, David; Toland, Amanda; Markowitz, Sanford; Kim, Andre; Chanock, Stephen J.; van Duijnhoven, Franzel; Feskens, Edith J. M.; Sakoda, Lori C.; Gago-Dominguez, Manuela; Wolk, Alicja; Pardini, Barbara; FitzGerald, Liesel M.; Lee, Soo Chin; Ogino, Shuji; Bien, Stephanie A.; Kooperberg, Charles; Li, Christopher I.; Lin, Yi; Prentice, Ross; Qu, Conghui; Bezieau, Stephane; Yamaji, Taiki; Sawada, Norie; Iwasaki, Motoki; Le Marchand, Loic; Wu, Anna H.; Qu, Chenxu; McNeil, Caroline E.; Coetzee, Gerhard; Hayward, Caroline; Deary, Ian J.; Harris, Sarah E.; Theodoratou, Evropi; Reid, Stuart; Walker, Marion; Ooi, Li Yin; Lau, Ken S.; Zhao, Hongyu; Hsu, Li; Cai, Qiuyin; Dunlop, Malcolm G.; Gruber, Stephen B.; Houlston, Richard S.; Moreno, Victor; Casey, Graham; Peters, Ulrike; Tomlinson, Ian; Zheng, WeiShareSaveTissue-specific genetic variation suggests distinct molecular pathways between body shape phenotypes and colorectal cancerSCIENCE ADVANCES2024-04-191OAAIPeruchet-Noray, Laia; Sedlmeier, Anja M.; Dimou, Niki; Baurecht, Hansjoerg; Fervers, Beatrice; Fontvieille, Emma; Konzok, Julian; Tsilidis, Kostas K.; Christakoudi, Sofia; Jansana, Anna; Cordova, Reynalda; Bohmann, Patricia; Stein, Michael J.; Weber, Andrea; Bezieau, Stephane; Brenner, Hermann; Chan, Andrew T.; Cheng, Iona; Figueiredo, Jane C.; Garcia-Etxebarria, Koldo; Moreno, Victor; Newton, Christina C.; Schmit, Stephanie L.; Song, Mingyang; Ulrich, Cornelia M.; Ferrari, Pietro; Viallon, Vivian; Carreras-Torres, Robert; Gunter, Marc J.; Freisling, Heinz
SCIENCE ADVANCESIF12.5
2024-04-191OAAIPeruchet-Noray, Laia; Sedlmeier, Anja M.; Dimou, Niki; Baurecht, Hansjoerg; Fervers, Beatrice; Fontvieille, Emma; Konzok, Julian; Tsilidis, Kostas K.; Christakoudi, Sofia; Jansana, Anna; Cordova, Reynalda; Bohmann, Patricia; Stein, Michael J.; Weber, Andrea; Bezieau, Stephane; Brenner, Hermann; Chan, Andrew T.; Cheng, Iona; Figueiredo, Jane C.; Garcia-Etxebarria, Koldo; Moreno, Victor; Newton, Christina C.; Schmit, Stephanie L.; Song, Mingyang; Ulrich, Cornelia M.; Ferrari, Pietro; Viallon, Vivian; Carreras-Torres, Robert; Gunter, Marc J.; Freisling, HeinzShareSavePurplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in WDR812024-04-170OAAILe Calvez, Baptiste; Besnard, Thomas; Cogne, Benjamin; Bezieau, Stephane; Bene, Marie C.; Beneteau, Claire; Eveillard, Marion
2024-04-170OAAILe Calvez, Baptiste; Besnard, Thomas; Cogne, Benjamin; Bezieau, Stephane; Bene, Marie C.; Beneteau, Claire; Eveillard, MarionShareSaveResearch Directions
No research directions