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论文共 88 篇作者统计合作学者相似作者

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Biallelic Loss-of-function Variants in ZNF142 Are Associated with a Robust DNA Methylation Signature Affecting a Limited Number of Genomic Loci
Mathis Hildonen,Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Chadi Al Alam,David J Amor,Tahsin Stefan Barakat,Valérie Benoit, Ohad Shmuel Birk,Bert Callewaert, Ana Cazurro-Gutiérrez, Matthias De Wachter, Martine Doco-Fenzy,Paulino Gómez-Puertas, Trine Bjørg Hammer,Rami Abou Jamra,Rauan Kaiyrzhanov, Shinichi Kameyama,Boris Keren,Christina Kresge, Ilona Krey,Damien Lederer, Iñigo Marcos-Alcalde,Reza Maroofian,Naomichi Matsumoto,Takeshi Mizuguchi, Lip-Hen Moey,Angela Morgan, Francina Munell,Konrad Platzer,Beth A Pletcher, David Ros-Pardo, Lynne Rumping, Katalin Szakszon,Kristof Van Schil, Edgard Verdura,Julie Vogt,Evangeline Wassmer,Mina Zamani,Zeynep Tümer,Marco Tartaglia
European journal of human genetics EJHG (2025)
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G004 Genetic Counselling in Huntington Disease: Think at an Additional Genetic Condition
Christine Verellen‐Dumoulin, Karin Dahan,Damien Lederer, Stéphanie Dubruille, Frédérique Claes, Emilie Guerit, Steffi Sandow,Sébastien Boulanger,Deniz Karadurmus, M. Dupuis
openalex（2024）
引用0浏览0引用
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Comprehensive EHMT1 Variants Analysis Broadens Genotype-Phenotype Associations and Molecular Mechanisms in Kleefstra Syndrome
Dmitrijs Rots,Arianne Bouman,Ayumi Yamada,Michael Levy,Alexander J. M. Dingemans,Bert B. A. de Vries,Martina Ruiterkamp-Versteeg,Nicole de Leeuw,Charlotte W. Ockeloen,Rolph Pfundt,Elke de Boer,Joost Kummeling,Bregje van Bon,Hans van Bokhoven,Nael Nadif Kasri,Hanka Venselaar,Marielle Alders,Jennifer Kerkhof,Haley McConkey,Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman,Audrey Smith, Maria Irene Valenzuela,Siddharth Srivastava,Zoe Frazier,Isabelle Maystadt,Carmelo Piscopo,Giuseppe Merla,Meena Balasubramanian,Gijs W. E. Santen,Kay Metcalfe,Soo-Mi Park, Laurent Pasquier,Siddharth Banka,Dian Donnai,Daniel Weisberg,Gertrud Strobl-Wildemann,Annemieke Wagemans,Maaike Vreeburg, Diana Baralle,Nicola Foulds,Ingrid Scurr,Nicola Brunetti-Pierri,Johanna M. van Hagen,Emilia K. Bijlsma,Anna H. Hakonen,Carolina Courage,David Genevieve,Lucile Pinson, Francesca Forzano,Charu Deshpande, Maria L. Kluskens, Lindsey Welling,Astrid S. Plomp,Els K. Vanhoutte,Louisa Kalsner,Janna A. Hol,Audrey Putoux, Johanna Lazier,Pradeep Vasudevan,Elizabeth Ames, Jessica O'Shea,Damien Lederer,Julie Fleischer, Mary O'Connor, Melissa Pauly,Georgia Vasileiou,Andre Reis,Catherine Kiraly-Borri,Arjan Bouman, Chris Barnett,Marjan Nezarati, Lauren Borch,Gea Beunders, Kubra Ozcan, Stephanie Miot,Catharina M. L. Volker-Touw,Koen L. I. van Gassen,Gerarda Cappuccio,Katrien Janssens,Nofar Mor, Inna Shomer,Dan Dominissini,Matthew L. Tedder,Alison M. Muir,Bekim Sadikovic, Han G. Brunner,Lisenka E. L. M. Vissers, Yoichi Shinkai,Tjitske Kleefstra
AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 1605-1625
引用3浏览0WOS引用
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G004 Genetic Counselling in Huntington Disease: Think at an Additional Genetic Condition
Christine Verellen-Dumoulin, Karin Dahan,Damien Lederer, Stéphanie Dubruille, Frédérique Claes, Emilie Guerit, Steffi Sandow,Sébastien Boulanger,Deniz Karadurmus, Michel Dupuis
G Genetic testing and counselling (2024)
引用0浏览0引用
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Functional and Clinical Studies Reveal Pathophysiological Complexity of CLCN4-related Neurodevelopmental Condition
Elizabeth E. Palmer,Michael Pusch,Alessandra Picollo, Caitlin Forwood,Matthew H. Nguyen,Vanessa Suckow, Jessica Gibbons,Alva Hoff,Lisa Sigfrid,Andre Megarbane,Mathilde Nizon,Benjamin Cogné,Claire Beneteau,Fowzan S. Alkuraya,Aziza Chedrawi,Mais O. Hashem,Hannah Stamberger,Sarah Weckhuysen,Arnaud Vanlander,Berten Ceulemans,Sulekha Rajagopalan,Kenneth Nunn,Stéphanie Arpin,Martine Raynaud,Constance S. Motter,Catherine Ward-Melver,Katrien Janssens,Marije Meuwissen,Diane Beysen,Nicola Dikow,Mona Grimmel,Tobias B. Haack,Emma Clement,Amy McTague,David Hunt,Sharron Townshend,Michelle Ward,Linda J. Richards,Cas Simons,Gregory Costain,Lucie Dupuis,Roberto Mendoza-Londono,Tracy Dudding-Byth,Jackie Boyle,Carol Saunders,Emily Fleming,Salima El Chehadeh,Marie-Aude Spitz,Amelie Piton,Bénédicte Gerard,Marie-Thérèse Abi Warde,Gillian Rea,Caoimhe McKenna,Sofia Douzgou,Siddharth Banka,Cigdem Akman,Jennifer M. Bain,Tristan T. Sands,Golder N. Wilson, Erin J. Silvertooth, Lauren Miller,Damien Lederer,Rani Sachdev,Rebecca Macintosh,Olivier Monestier,Deniz Karadurmus,Felicity Collins,Melissa Carter,Luis Rohena,Marjolein H. Willemsen,Charlotte W. Ockeloen,Rolph Pfundt,Sanne D. Kroft,Michael Field,Francisco E. R. Laranjeira,Ana M. Fortuna,Ana R. Soares,Vincent Michaud,Sophie Naudion,Sailaja Golla,David D. Weaver,Lynne M. Bird,Jennifer Friedman,Virginia Clowes,Shelagh Joss,Laura Pölsler,Philippe M. Campeau,Maria Blazo,Emilia K. Bijlsma,Jill A. Rosenfeld,Christian Beetz,Zöe Powis,Kirsty McWalter,Tracy Brandt,Erin Torti, Mikaël Mathot,Shekeeb S. Mohammad,Ruth Armstrong,Vera M. Kalscheuer
MOLECULAR PSYCHIATRYno. 2 (2023): 668-697
引用19浏览0WOSNATURE引用
19
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BRAT1–related Disorders: Phenotypic Spectrum and Phenotype-Genotype Correlations from 97 Patients
Camille Engel,Stéphanie Valence,Geoffroy Delplancq,Reza Maroofian,Andrea Accogli,Emanuele Agolini,Fowzan S. Alkuraya,Valentina Baglioni,Irene Bagnasco,Mathilde Becmeur-Lefebvre,Enrico Bertini,Ingo Borggraefe,Elise Brischoux-Boucher,Ange-Line Bruel,Alfredo Brusco,Dalal K. Bubshait,Christelle Cabrol,Maria Roberta Cilio,Marie-Coralie Cornet,Christine Coubes,Olivier Danhaive,Valérie Delague,Anne-Sophie Denommé-Pichon,Marilena Carmela Di Giacomo,Martine Doco-Fenzy,Hartmut Engels,Kirsten Cremer,Marion Gérard,Joseph G. Gleeson,Delphine Heron,Joanna Goffeney,Anne Guimier,Frederike L. Harms,Henry Houlden,Michele Iacomino,Rauan Kaiyrzhanov,Benjamin Kamien,Ehsan Ghayoor Karimiani,Dror Kraus,Paul Kuentz,Kerstin Kutsche,Damien Lederer,Lauren Massingham,Cyril Mignot,Déborah Morris-Rosendahl,Lakshmi Nagarajan,Sylvie Odent,Clothilde Ormières, Jennifer Neil Partlow,Laurent Pasquier,Lynette Penney,Christophe Philippe,Gianluca Piccolo,Cathryn Poulton,Audrey Putoux,Marlène Rio,Christelle Rougeot,Vincenzo Salpietro,Ingrid Scheffer,Amy Schneider,Siddharth Srivastava,Rachel Straussberg,Pasquale Striano,Enza Maria Valente,Perrine Venot,Laurent Villard,Antonio Vitobello,Johanna Wagner,Matias Wagner,Maha S. Zaki,Federizo Zara,Gaetan Lesca,Vahid Reza Yassaee,Mohammad Miryounesi,Farzad Hashemi-Gorji, Mehran Beiraghi,Farah Ashrafzadeh,Hamid Galehdari,Christopher Walsh,Antonio Novelli,Moritz Tacke,Dinara Sadykova,Yerdan Maidyrov, Kairgali Koneev,Chingiz Shashkin,Valeria Capra,Mina Zamani,Lionel Van Maldergem,Lydie Burglen,Juliette Piard
EUROPEAN JOURNAL OF HUMAN GENETICS（2023）
引用5浏览0WOSNATURE引用
5
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作者统计

#Papers: 88

#Citation: 2170

H-Index: 23

G-Index: 46

Sociability: 7

Diversity: 3

Activity: 21

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