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Research Interests

Papers共 319 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
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The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
Francesca Furia,Amanda M Levy, Miel Theunis,Michael J Bamshad, Meghan N Bartos,Emilia K Bijlsma, Francesco Brancati, Lucile Cejudo,Jessica X Chong,Chiara De Luca,Sarah Joy Dean,Alena Egense, Himanshu Goel, Adam J Guenzel,Ulrike Hüffmeier, Eric Legius, Grazia M S Mancini, Iñigo Marcos-Alcalde,Tanguy Niclass, Marc Planes,Sylvia Redon, David Ros-Pardo,Karen Rouault,Rachel Schot,Sarah Schuhmann,Joseph J Shen,Alice M Tao,Isabelle Thiffault,Hilde Van Esch,Ingrid M Wentzensen,Tahsin Stefan Barakat, Rikke S Møller, Paulino Gomez-Puertas,Wendy K Chung,Elena Gardella,Zeynep Tümer
Clinical genetics (2024)
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Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features
Dong Li,Qin Wang,Allan Bayat,Mark R. Battig,Yijing Zhou,Danielle G. M. Bosch,Gijs van Haaften,Leslie Granger,Andrea K. Petersen,Luis A. Perez-Jurado,Gemma Aznar-Lain, Anushree Aneja,Miroslava Hancarova,Sarka Bendova,Martin Schwarz,Radka Kremlikova Pourova,Zdenek Sedlacek, Beth A. Keena,Michael E. March,Cuiping Hou,Nora O'Connor,Elizabeth J. Bhoj,Margaret H. Harr,Gabrielle Lemire,Kym M. Boycott,Meghan Towne,Megan Li,Mark Tarnopolsky,Lauren Brady,Michael J. Parker,Hanna Faghfoury, Lea Kristin Parsley,Emanuele Agolini,Maria Lisa Dentici,Antonio Novelli,Meredith Wright,Rachel Palmquist,Khanh Lai,Marcello Scala,Pasquale Striano,Michele Iacomino,Federico Zara, Annina Cooper,Timothy J. Maarup,Melissa Byler,Robert Roger Lebel,Tugce B. Balci,Raymond Louie,Michael Lyons,Jessica Douglas,Catherine Nowak,Alexandra Afenjar,Juliane Hoyer,Boris Keren,Saskia M. Maas,Mahdi M. Motazacker,Julian A. Martinez-Agosto,Ahna M. Rabani,Elizabeth M. McCormick,Marni J. Falk, Sarah M. Ruggiero,Ingo Helbig,Rikke S. Moller,Lino Tessarollo,Francesco Tomassoni Ardori,Mary Ellen Palko,Tzung-Chien Hsieh,Peter M. Krawitz,Mythily Ganapathi,Bruce D. Gelb,Vaidehi Jobanputra,Ashley Wilson,John Greally,Sebastien Jacquemont, Khadije Jizi,Ange-Line Bruel,Chloe Quelin,Vinod K. Misra, Erika Chick,Corrado Romano,Donatella Greco, Alessia Arena,Manuela Morleo,Vincenzo Nigro,Rie Seyama,Yuri Uchiyama,Naomichi Matsumoto,Ryoji Taira,Katsuya Tashiro,Yasunari Sakai,Gokhan Yigit,Bernd Wollnik, Michael Wagner, Barbara Kutsche,Anna C. E. Hurst,Michelle L. Thompson,Ryan Schmidt,Linda Randolph,Rebecca C. Spillmann,Vandana Shashi,Edward J. Higginbotham,Dawn Cordeiro,Amanda Carnevale,Gregory Costain,Tayyaba Khan,Benoit Funalot,Frederic Tran Mau-Them, Luis Fernandez Garcia Moya,Sixto Garcia-Minaur,Matthew Osmond,Lauren Chad,Nada Quercia, Diana Carrasco,Chumei Li,Amarilis Sanchez-Valle,Meghan Kelley,Mathilde Nizon,Brynjar O. Jensson,Patrick Sulem,Kari Stefansson,Svetlana Gorokhova,Tiffany Busa,Marlene Rio, Hamza Hadj Habdallah,Marion Lesieur-Sebellin,Jeanne Amiel,Veronique Pingault,Sandra Mercier,Marie Vincent,Christophe Philippe, Clemence Fatus-Fauconnier,Kathryn Friend, Rebecca K. Halligan, Sunita Biswas, Jane Rosser,Cheryl Shoubridge,Mark Corbett,Christopher Barnett,Jozef Gecz,Kathleen Leppig,Anne Slavotinek,Carlo Marcelis,Rolph Pfundt,Bert B. A. de Vries,Marjon A. van Slegtenhorst,Alice S. Brooks,Benjamin Cogne, Thomas Rambaud,Zeynep Tumer,Elaine H. Zackai,Naiara Akizu,Yuanquan Song,Hakon Hakonarson
˜The œJournal of clinical investigation/˜The œjournal of clinical investigationno. 1 (2024)
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Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder
Stephanie Efthymiou, Cailyn Leo, Chenghong Deng,Kejia Zhang,Sheng-Jia Lin, Reza Maroofian,Rauan Kaiyrzhanov, Renee Qing Lin, Irem Karagoz, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke,Cassidy Petree, Anna V Derrick,Mark I Rees,Javeria Raza Alvi,Tipu Sultan,Chumei Li,Marie-Line Jacquemont, Frederic Tran-Mau-Them,Maria Irene Valenzuela, Rich Sidlow, Grace Yoon, Michelle Morrow, Alexis Carere, Mary O'Connor, Julie Fleischer,Erica H. Gerkes,Chanika Phornphutkul,Bertrand Isidor, Clotilde Rivier-Ringenbach, Christophe Philippe,Semra Hiz Kurul, Didem Soydemir, Bulent Kara, Deniz Sunnetci-Akkoyunlu, Viktoria Bothe,Konrad Platzer, Dagmar Wieczorek,Margarete Koch-Hogrebe,Nils Rahner,Ann-Charlotte Thuresson,Hans Matsson,Carina Frykholm,Sevcan Tug Bozdogan,Atil Bisgin,Nicolas Chatron,Gaetan Lesca,Sara Cabet,Zeynep Tumer, Tina Duelund Hjortshoj,Gitte Ronde,Thorsten Marquardt,Janine Reunert,Erum Afzal,Mina Zamani, Reza Azizimalamiri,Hamid Galehdari, Pardis Nourbakhshd, Niloofar Chamanrou,Seo-Kyung Chung,Mohnish Suri,Paul J Benke, Maha S Zaki,Joseph G Gleeson,Daniel G Calame,Davut Pehlivan, Halil Ibrahim Yilmaz, Alper Gezdirici, Aboulfazl Rad, Iman Sabri Abumansour, Gabriela Oprea,Jai Sidpra,Kshitij Mankad,Barbara Vona,Andrew Fry,Gaurav K Varshney,Henry Houlden,Dragony Fu
medrxiv（2024）
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Author Statistics

#Papers: 316

#Citation: 9292

H-Index: 48

G-Index: 87

Sociability: 8

Diversity: 0

Activity: 2

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