基本信息
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Bio
Our research aims to unravel the molecular pathogenesis of neurodevelopmental disorders (NDD) caused by pathogenic variants of the ubiquitin-proteasome system (UPS). To this end, we have generated the “BioTND-UPS” biobank which consists today of >60 specimens derived from NDD patients carrying genomic alterations in UPS genes. We expect from the functional investigations of these samples to identify biomarkers, molecular signatures and/or therapeutic targets specific to these rare diseases.
Research Interests
Papers共 104 篇Author StatisticsCo-AuthorSimilar Experts
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EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 482-482
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Sahar Da'as,Frederic Ebstein, Constance Wells, Aymeric Masson, Julien Paccaud, Waseem Hassan, Sixto Garcia-Minaur, Emi Rikeros Orozco,Elena Mansilla, Mamen Sanchez-Gomez,Miranda Splitt,Ruth Richardson, Florent Fuchs,Yannis Duffourd, Raissa Relator, Elke Krueger, Christophe Philippe,Laurence Faivre, Christel Thauvin-Robinet, Bekim Sadikovic, Maria Palomares-Bralo,Khalid Fakhro,Antonio Vitobello
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 12-12
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Hellen Lesmann,Shahida Moosa,Jean Tori Pantel,Alexander Hustinx,Tom Kamphans,Wolfgang Meiswinkel,Jing-Mei Li,Hannah Klinkhammer,Behnam Javanmardi,Alexej Knaus,Stanislav Rosnev, Merle ten Hagen,Pilar Caro, Ibrahim Abdelrazek,Clara Velmans,Frederic Ebstein,Sebastien Kury,Ebtesam Abdalla, Matthias Hoeller,Kimberly Christine Coetzer, Miriam Elbracht,Felix Marbach,Cordula Knopp,Claudio Graziano,Annabelle Arlt,Artem Borovikov,Christian Netzer,Annette Uwineza,Rami Abou Jamra, Markus Noethen,Gholson Lyon,Peter Krawitz,Tzung-Chien Hsieh
Frederic Ebstein,Xenia Latypova, Ka Ying Sharon Hung,Miguel A. Prado,Byung-Hoon Lee,Sophie Moeller,Martin Wendlandt,Barbara A. Zieba,Laetitia Florenceau,Virginie Vignard, Lea Poirier,Berenice Toutain,Isabella Moroni,Charlotte Dubucs,Nicolas Chassaing,Judit Horvath,Holger Prokisch,Sebastien Kury,Stephane Bezieau,Joao A. Paulo,Daniel Finley,Elke Krueger,Daniele Ghezzi,Bertrand Isidor
GENETICS IN MEDICINEno. 6 (2024)
Tianyun Wang,Patrick Blackburn,Frédéric Ebstein, Tzung-Chien Hsieh,Marialetizia Motta, Francesca Clementina Radio, Johanna Herkert,Tuula Rinne,Elke Krüger,Stéphane Bézieau,Hannah Klinkhammer,Peter Michael Krawitz,Evan Eichler, Marco Tartaglia, Sébastien Küry
European Neuropsychopharmacology (2024)
Hellen Lesmann,Alexander Hustinx,Shahida Moosa,Hannah Klinkhammer,Elaine Marchi,Pilar Caro, Ibrahim M Abdelrazek,Jean Tori Pantel, Merle Ten Hagen, Meow-Keong Thong, Rifhan Azwani Binti Mazlan, Sok Kun Tae,Tom Kamphans,Wolfgang Meiswinkel,Jing-Mei Li,Behnam Javanmardi,Alexej Knaus,Annette Uwineza,Cordula Knopp,Tinatin Tkemaladze,Miriam Elbracht, Larissa Mattern,Rami Abou Jamra,Clara Velmans,Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias,Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro,Chong Ae Kim,Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad, Sarah Wiethoff,Himanshu Goel, Clara Tang, Anna Hau,Tahsin Stefan Barakat, Przemysław Panek,Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy,Luisa Averdunk,Ekanem Ekure, Gaber Bergant, Borut Peterlin,Claudio Graziano, Nagwa Gaboon, Moisés Fiesco-Roa, Alessandro Mauro Spinelli, Nina-Maria Wilpert,Prasit Phowthongkum,Nergis Güzel,Tobias B Haack, Rana Bitar, Andreas Tzschach, Agusti Rodriguez-Palmero,Theresa Brunet,Sabine Rudnik-Schöneborn, Silvina Noemi Contreras-Capetillo, Ava Oberlack, Carole Samango-Sprouse, Teresa Sadeghin, Margaret Olaya,Konrad Platzer,Artem Borovikov,Franziska Schnabel,Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlosi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio F Martinez-Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed,Amaia Lasa-Aranzasti, John A Sayer, Nadja Ehmke, Magdalena Danyel, Henrike Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, Ronja Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun, Ben Pode-Shakked, Aviva Eliyahu, Rachel Rock, Teresa Carrion, Odelia Chorin, Yuri A Zarate, Marcelo Martinez Conti, Mert Karakaya, Moon Ley Tung, Bharatendu Chandra, Arjan Bouman, Aime Lumaka, Naveed Wasif, Marwan Shinawi, Patrick R Blackburn, Tianyun Wang, Tim Niehues, Axel Schmidt, Regina Rita Roth, Dagmar Wieczorek, Ping Hu,Rebekah L Waikel,Suzanna E Ledgister Hanchard,Gehad Elmakkawy,Sylvia Safwat,Frédéric Ebstein,Elke Krüger,Sébastien Küry, Stéphane Bézieau,Annabelle Arlt, Eric Olinger,Felix Marbach, Dong Li,Lucie Dupuis,Roberto Mendoza-Londono,Sofia Douzgou Houge,Denisa Weis,Brian Hon-Yin Chung,Christopher C Y Mak, Hülya Kayserili, Nursel Elcioglu, Ayca Aykut, Peli Özlem Şimşek-Kiper, Nina Bögershausen, Bernd Wollnik, Heidi Beate Bentzen, Ingo Kurth,Christian Netzer,Aleksandra Jezela-Stanek,Koen Devriendt,Karen W Gripp,Martin Mücke,Alain Verloes,Christian P Schaaf,Christoffer Nellåker,Benjamin D Solomon,Markus M Nöthen,Ebtesam Abdalla,Gholson J Lyon,Peter M Krawitz,Tzung-Chien Hsieh
medRxiv the preprint server for health sciences (2024)
Sébastien Küry,Janelle E. Stanton,Geeske van Woerden,Tzung-Chien Hsieh,Cory Rosenfelt,Marie Pier Scott-Boyer,Victoria Most,Tianyun Wang,Jonas Johannes Papendorf,Charlotte de Konink,Wallid Deb,Virginie Vignard,Maja Studencka-Turski,Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel,Sophie Möller,Laëtitia Florenceau,Silvestre Cuinat, Sylvain Marsac,Ingrid 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, C.M.L. (Nienke) Volker-Touw,Koen L. I. van Gassen,Renske Oegema, Mirjam 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 Swanson,Carrie Costin,Rebekah K. Jobling,John Pappas,Rachel Rabin,Dmitriy Niyazov,Anne Chun-Hui Tsai, Karen Kovak,David B. Beck, MCV Malicdan,David R. Adams,Lynne Wolfe,Rebecca D. Ganetzky,Colleen 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 Hamilton,Lisa Bryson,Elaine Cleary,Sacha Weber,Trevor L. Hoffman,Anna Maria Cueto-González,Eduardo Fidel Tizzano,David Gómez-Andrés,Marta Codina-Solà,Athina Ververi,Efterpi Pavlidou,Alexandros Lambropoulos,Kyriakos Garganis,Marlène Rio,Jonathan Levy,Sarah Jurgensmeyer, Anne M. McRae, Mathieu Kent Lessard,Maria Daniela D’Agostino,Isabelle De Bie,Meret Wegler,Rami Abou Jamra,Susanne B. Kamphausen,Viktoria Bothe,Larissa M. Busch,Uwe Völker,Elke Hammer,Kristian Wende,Benjamin Cogné,Bertrand Isidor,Jens Meiler, Amélie Bosc-Rosati,Julien Marcoux,Marie-Pierre Bousquet,Jeremie Poschmann,Frédéric Laumonnier,Peter W. Hildebrand,Evan E. Eichler,Kirsty McWalter,Peter M. Krawitz,Arnaud Droit,Ype Elgersma,Andreas M. Grabrucker,Francois V. Bolduc,Stéphane Bézieau,Frédéric Ebstein,Elke Krüger
medrxiv(2024)
Sebastien Kury,Jeremie Poschmann,Peter Krawitz,Francois Bolduc,Arnaud Droit,Ype Elgersma,Frederic Laumonnier,Andreas Grabrucker,Marie-Pierre Bousquet,Julien Marcoux,Tzung-Chien Hsieh,Florence Roux-Dalvai,Mickael Leclercq,Virginie Vignard,Wallid Deb,Laetitia Florenceau,Sandra Mercier,Bertrand Isidor,Stephane Bezieau,Frederic Ebstein
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 457-458
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Wallid Deb,Cory Rosenfelt,Virginie Vignard,Jonas Johannes Papendorf,Sophie Moeller,Martin Wendlandt,Maja Studencka-Turski,Benjamin Cogne,Thomas Besnard, Lea Ruffier,Berenice Toutain, Lea Poirier,Silvestre Cuinat,Amy Kritzer,Amy Crunk,Janette diMonda,Jaime Vengoechea,Sandra Mercier,Lotte Kleinendorst,Mieke M. van Haelst,Linda Zuurbier, Telma Sulem,Hildigunnur Katrinardottir, Run Friariksdottir,Patrick Sulem,Kari Stefansson,Berglind Jonsdottir,Shimriet Zeidler,Margje Sinnema,Alexander P. A. Stegmann, Natali Naveh,Cara M. Skraban,Christopher Gray,Jill R. Murrell, Sedat Isikay,Davut Pehlivan,Daniel G. Calame,Jennifer E. Posey,Mathilde Nizon,Kirsty McWalter,James R. Lupski,Bertrand Isidor,Francois V. Bolduc,Stephane Bezieau,Elke Kruger,Sebastien Kury,Frederic Ebstein
AMERICAN JOURNAL OF HUMAN GENETICSno. 7 (2024)
Patrick R. Blackburn,Frederic Ebstein,Tzung-Chien Hsieh,Marialetizia Motta,Francesca Clementina Radio,Johanna C. Herkert,Tuula Rinne,Isabelle Thiffault,Michele Rapp,Mariel Alders,Saskia Maas,Benedicte Gerard,Thomas Smol,Catherine Vincent-Delorme,Benjamin Cogne,Bertrand Isidor,Marie Vincent,Ruxandra Bachmann-Gagescu,Anita Rauch,Pascal Joset,Giovanni Battista Ferrero,Andrea Ciolfi,Thomas Husson,Anne-Marie Guerrot,Carlos Bacino,Colleen Macmurdo,Stephanie S. Thompson,Jill A. Rosenfeld,Laurence Faivre,Frederic Tran Mau-Them,Wallid Deb,Virginie Vignard,Pankaj B. Agrawal,Jill A. Madden,Alice Goldenberg,Francois Lecoquierre,Michael Zech,Holger Prokisch,Jan Necpal,Robert Jech,Juliane Winkelmann,Monika Turcanova Koprusakova,Vassiliki Konstantopoulou,John R. Younce,Marwan Shinawi,Chloe Mighton, Charlotte Fung,Chantal F. Morel,Jordan Lerner-Ellis,Stephanie Ditroia,Magalie Barth,Dominique Bonneau,Ingrid Krapels,Alexander P. A. Stegmann,Vyne van Der Schoot,Theresa Brunet,Cornelia Bussmann,Cyril Mignot, Giuseppe Zampino,Saskia B. Wortmann,Johannes A. Mayr,Rene G. Feichtinger,Thomas Courtin,Claudia Ravelli,Boris Keren,Alban Ziegler,Linda Hasadsri,Pavel N. Pichurin,Eric W. Klee,Katheryn Grand,Pedro A. Sanchez-Lara,Elke Krueger,Stephane Bezieau,Hannah Klinkhammer,Peter Michael Krawitz,Evan E. Eichler,Marco Tartaglia,Sebastien Kuery,Tianyun Wang
ANNALS OF NEUROLOGY (2024)
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Author Statistics
#Papers: 104
#Citation: 2188
H-Index: 24
G-Index: 46
Sociability: 7
Diversity: 2
Activity: 66
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