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研究兴趣

论文共 17 篇作者统计合作学者相似作者

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AUTS2-related Syndrome: Insights from a Large European Cohort
Lorenzo Loberti,Loredaria Adamo,Enrica Antolini, Giulia Casamassima,Anne Destrèe,Nicola Brunetti-Pierri,David Genevieve, Philippe Christophe,Christine Coubes,Hilde Van Esch,Theresia Herget,Fanny Kortüm,Jasmin Lisfeld, Anna Charlotte Möllring,Martin Zenker,Jonathan Levy,Laurence Perrin,Anne-Claude Tabet,Anna Maruani,Arthur Sorlin,Daniel Stieber, Lucas Herissant, Karin Dahan,Lorenzo Sinibaldi,Rossella Capolino,Maria Lisa Dentici,Bruno Dallapiccola,Antonio Novelli,Livia Garavelli,Stefano Giuseppe Caraffi,Gianluca Piatelli,Irene Valenzuela,Maria Cristina Digilio,Roseline Caumes,Cordula Knopp,Karolina Chwiałkowska,Aleksandra Jezela-Stanek, Miroslaw Kwasniewski, Urszula Korotko, Ewelina Gorzałczyńska,Roberto Canitano,Salvatore Grosso,Elisa Rahikkala, Larissa Mattern,Miriam Elbracht,Orsetta Zuffardi,Valentina Caputo,Benedetta Toschi,Gea Beunders,Lisette Leeuwen,Mariet W Elting,Liselot van der Laan, Marjoleine F Broekema,Alexander J Groffen,Jiddeke M van de Kamp,Mieke M van Haelst,Marielle Alders, Salvatore Pietro Mauro, Francesca De Razza, Dora Varvara, Johanna Kick,Harald Gaspar,Dominique Braun,Eva Lausberg, Andrea Maier,Valentin Ruault,Rita Genesio,Marco Tartaglia,Rossella Tita,Mirella Bruttini,Ilaria Longo,Margherita Baldassarri,Maria Antonietta Mencarelli,Alessandra Renieri,Anna Maria Pinto
Genetics in medicine official journal of the American College of Medical Geneticsno. 6 (2025): 101375-101375
引用0浏览0WOS引用
0
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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
3
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DLG4-related Synaptopathy: a New Rare Brain Disorder
Agustí Rodríguez-Palmero,Melissa Maria Boerrigter,David Gómez-Andrés,Kimberly A. Aldinger,Íñigo Marcos-Alcalde,Bernt Popp,David B. Everman,Alysia Kern Lovgren,Stephanie Arpin,Vahid Bahrambeigi,Gea Beunders,Anne-Marie Bisgaard,V. A. Bjerregaard,Ange-Line Bruel,Thomas D. Challman,Benjamin Cogné,Christine Coubes,Stella A. de Man,Anne-Sophie Denommé-Pichon,Thomas J. Dye,Frances Elmslie,Lars Feuk,Sixto García-Miñaúr,Tracy Gertler,Elisa Giorgio,Nicolas Gruchy,Tobias B. Haack,Chad R. Haldeman-Englert,Bjørn Ivar Haukanes,Juliane Hoyer,Anna C. E. Hurst,Bertrand Isidor,Maria Johansson Soller,Sulagna Kushary,Malin Kvarnung,Yuval E. Landau,Kathleen A. Leppig,Anna Lindstrand,Lotte Kleinendorst,Alex MacKenzie,Giorgia Mandrile,Bryce A. Mendelsohn,Setareh Moghadasi,Jenny E. Morton,Sebastien Moutton,Amelie J. Müller,Melanie O’Leary,Marta Pacio-Míguez,Maria Palomares-Bralo,Sumit Parikh,Rolph Pfundt,Ben Pode-Shakked,Anita Rauch,Elena Repnikova,Anya Revah-Politi,Meredith J. Ross,Claudia A. L. Ruivenkamp,Elisabeth Sarrazin,Juliann M. Savatt,Agatha Schlüter,Bitten Schönewolf-Greulich,Zohra Shad,Charles Shaw-Smith,Joseph T. Shieh, Motti Shohat,Stephanie Spranger,Heidi Thiese,Frederic Tran Mau-Them,Bregje van Bon, Ineke van de Burgt,Ingrid M. B. H. van de Laar, Esmée van Drie,Mieke M. van Haelst,Conny M. van Ravenswaaij-Arts,Edgard Verdura,Antonio Vitobello,Stephan Waldmüller,Sharon Whiting,Christiane Zweier,Carlos E. Prada,Bert B. A. de Vries,William B. Dobyns,Simone F. Reiter,Paulino Gómez-Puertas,Aurora Pujol,Zeynep Tümer
Genetics in Medicine（2021）
引用26浏览0WOS引用
26
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作者统计

#Papers: 17

#Citation: 465

H-Index: 8

G-Index: 13

Sociability: 6

Diversity: 2

Activity: 6

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