WeChat Mini Program
Old Version Features
Research Interests

Papers共 89 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
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)
Cited0Views0WOSBibtex
0
0
Phenotypic Spectrum in Individuals with Pathogenic GABRG2 Loss- and Gain-of-Function Variants
Alessandra Rossi, Susan X N Lin, Nathan L Absalom, Sebastian Ortiz-De la Rosa, Vivian W Y Liao, Nazanin A Mohammadi, Sindhu Viswanathan, Tommy Stödberg,Alberto Danieli, Paolo Bonanni,Alec Aeby,Alessandro Orsini,Alice Bonuccelli, Andrea Rüegger,Beatriz G Giraldez,Bertrand Isidor, Burkhard Stüve,Carla Marini, Elisabetta Cesaroni, Christina D Fenger, Christophe Philippe, Colombine Meunier,Damien Lederer, Stéphanie Moortgat, Egidio Spinelli,Elisa Fallica, Fiona Zeiner, Matthias Bauman,Laura Licchetta,Francesca Bisulli, Francesca F Operto, Ira Benkel-Herrenbrueck, Kathleen M Gorman,Katrine M Johannesen,Konrad Platzer, Franziska Schnabel,Lieven Lagae, Mirjam Laufs,Riina Zordania, Stephen Malone,Tullio Messana, Wendy Werckx, Charlotta Jonsson,Zaid Afawi,Thomas Foiadelli, Yosra Halleb,Radka Stoeva, Mélanie Jennesson-Lyver,Gaetan Lesca,Renzo Guerrini, Samuel F Berkovic, Ingrid E Scheffer, Mary Chebib,Elena Gardella,Rikke S Møller,Guido Rubboli,Philip K Ahring
Neurologyno. 2 (2025): e213644-e213644
Cited0Views0WOSBibtex
0
0
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）
Cited0Views0Bibtex
0
0
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
Cited3Views0WOSBibtex
3
0
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)
Cited0Views0Bibtex
0
0
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
Cited19Views0WOSNATUREBibtex
19
0
Load More
Author Statistics

#Papers: 88

#Citation: 2170

H-Index: 23

G-Index: 46

Sociability: 7

Diversity: 3

Activity: 21

  • 合作者
  • 学生
  • 导师
No result temporarily, you can search similar Scholar with the same research interest
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn