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Papers共 73 篇Author StatisticsCo-AuthorSimilar Experts

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Variants in BSN, Encoding the Presynaptic Protein Bassoon, Result in a Novel Neurodevelopmental Disorder with a Broad Phenotypic Range
Stacy G Guzman,Sarah M Ruggiero,Shiva Ganesan, Colin A Ellis, Alicia G Harrison,Katie R Sullivan,Zornitza Stark,Natasha J Brown, Sajel L Kana, Anabelle Tuttle,Jair Tenorio,Pablo Lapunzina, Julián Nevado,Marie T McDonald,Courtney Jensen,Patricia G Wheeler, Lila Stange,Jennifer Morrison,Boris Keren,Solveig Heide, Meg W Keating,Kameryn M Butler, Mike A Lyons, Shailly Jain, Mehdi Yeganeh,Michelle L Thompson, Molly Schroeder, Hoanh Nguyen, Jorge Granadillo, Kari M Johnston,Chaya N Murali, Katie Bosanko, T Andrew Burrow, CHOP Birth Defects Biorepository, Penn Medicine Biobank, Syreeta Morgan,Deborah J Watson,Hakon Hakonarson,Ingo Helbig
medRxiv the preprint server for health sciences (2025)
Cited0Views0WOSBibtex
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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 Journal of clinical investigationno. 1 (2024)
Cited3Views0WOSBibtex
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Author Statistics

#Papers: 73

#Citation: 1662

H-Index: 21

G-Index: 40

Sociability: 7

Diversity: 2

Activity: 14

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