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论文共 55 篇作者统计合作学者相似作者

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Transcriptome-wide Outlier Approach Identifies Individuals with Minor Spliceopathies
Maggie T Arriaga, Rodrigo Mendez,Rachel A Ungar,Devon E Bonner,Dena R Matalon,Gabrielle Lemire,Pagé C Goddard, Evin M Padhi, Alexander M Miller, Jonathon V Nguyen, Jialan Ma,Kevin S Smith,Stuart A Scott, Linda Liao, Zena Ng,Shruti Marwaha,Guney Bademci, Stephanie A Bivona,Mustafa Tekin, Undiagnosed Disease Network, Genomics Research to Elucidate the Genetics of Rare Diseases consortium,Jonathan A Bernstein,Stephen B Montgomery,Anne O'Donnell-Luria,Matthew T Wheeler,Vijay S Ganesh
medRxiv the preprint server for health sciences (2025)
引用0浏览0WOS引用
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Lethal Neonatal Acidosis: Multiomic Investigation of a Novel HIBCH Variant As the Underlying Cause
Sonali Patel, Muhammad Zain-ul-abideen, Genevieve Guyol,Lance H. Rodan, Casie A. Genetti, Amy Z. Ren, Philip Connors, Patricia Davenport, Ruby Bartolome,Inderneel Sahai,Vijay S. Ganesh,Monica H. Wojcik
Molecular Genetics and Metabolism Reports (2025): 101223
引用0浏览0引用
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De Novo Variants in the RNU4-2 Snrna Cause a Frequent Neurodevelopmental Syndrome
Yuyang Chen,Ruebena Dawes,Hyung Chul Kim,Alicia Ljungdahl,Sarah L Stenton,Susan Walker,Jenny Lord,Gabrielle Lemire, Alexandra C Martin-Geary,Vijay S Ganesh, Jialan Ma,Jamie M Ellingford,Erwan Delage,Elston N D'Souza,Shan Dong,David R Adams, Kirsten Allan,Madhura Bakshi, Erin E Baldwin,Seth I Berger,Jonathan A Bernstein, Ishita Bhatnagar,Ed Blair,Natasha J Brown,Lindsay C Burrage,Kimberly Chapman,David J Coman,Alison G Compton, Chloe A Cunningham,Precilla D'Souza,Petr Danecek,Emmanuèle C Délot,Kerith-Rae Dias,Ellen R Elias,Frances Elmslie,Care-Anne Evans,Lisa Ewans,Kimberly Ezell,Jamie L Fraser,Lyndon Gallacher,Casie A Genetti,Anne Goriely,Christina L Grant,Tobias Haack, Jenny E Higgs,Anjali G Hinch,Matthew E Hurles,Alma Kuechler,Katherine L Lachlan,Seema R Lalani,François Lecoquierre,Elsa Leitão,Anna Le Fevre,Richard J Leventer,Jan E Liebelt,Sarah Lindsay,Paul J Lockhart,Alan S Ma,Ellen F Macnamara,Sahar Mansour,Taylor M Maurer,Hector R Mendez,Kay Metcalfe,Stephen B Montgomery,Mariya Moosajee,Marie-Cécile Nassogne,Serena Neumann, Michael O'Donoghue,Melanie O'Leary,Elizabeth E Palmer, Nikhil Pattani,John Phillips,Georgia Pitsava, Ryan Pysar,Heidi L Rehm,Chloe M Reuter,Nicole Revencu,Angelika Riess,Rocio Rius,Lance Rodan,Tony Roscioli,Jill A Rosenfeld,Rani Sachdev, Charles J Shaw-Smith,Cas Simons,Sanjay M Sisodiya,Penny Snell, Laura St Clair,Zornitza Stark,Helen S Stewart,Tiong Yang Tan,Natalie B Tan,Suzanna E L Temple,David R Thorburn,Cynthia J Tifft,Eloise Uebergang,Grace E VanNoy,Pradeep Vasudevan,Eric Vilain,David H Viskochil,Laura Wedd,Matthew T Wheeler,Susan M White,Monica Wojcik,Lynne A Wolfe,Zoe Wolfenson,Caroline F Wright,Changrui Xiao,David Zocche,John L Rubenstein,Eirene Markenscoff-Papadimitriou,Sebastian M Fica,Diana Baralle,Christel Depienne,Daniel G MacArthur, M,Stephan J Sanders,Anne O'Donnell-Luria,Nicola Whiffin
Natureno. 8026 (2024): 832-840
引用3浏览0WOSNATURE引用
3
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Aggregating the Loose Threads
Sonya Davey,Vijay S. Ganesh,Anthony A. Amato,Yee-Ping Sun,Joseph Loscalzo
NEW ENGLAND JOURNAL OF MEDICINEno. 1 (2024): 69-76
引用0浏览0WOS引用
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Genome Sequencing for Diagnosing Rare Diseases
Monica H. Wojcik,Gabrielle Lemire, Eva Berger,Maha S. Zaki, Mariel Wissmann,Wathone Win,Susan M. White,Ben Weisburd,Dagmar Wieczorek,Leigh B. Waddell,Jeffrey M. Verboon,Grace E. VanNoy,Ana Toepf,Tiong Yang Tan,Steffen Syrbe,Vincent Strehlow,Volker Straub,Sarah L. Stenton,Hana Snow,Moriel Singer-Berk,Josh Silver,Shirlee Shril,Eleanor G. Seaby,Ronen Schneider,Vijay G. Sankaran,Alba Sanchis-Juan,Kathryn A. Russell,Karit Reinson,Gianina Ravenscroft,Maximilian Radtke,Denny Popp,Tilman Polster,Konrad Platzer,Eric A. Pierce,Emily M. Place,Sander Pajusalu,Lynn Pais,Katrin Ounap,Ikeoluwa Osei-Owusu, Henry Opperman,Volkan Okur,Kaisa Teele Oja,Melanie O'Leary,Emily O'Heir,Chantal F. Morel,Andreas Merkenschlager,Rhett G. Marchant,Brian E. Mangilog,Jill A. Madden,Daniel MacArthur,Alysia Lovgren,Jordan P. Lerner-Ellis,Jasmine Lin,Nigel Laing,Friedhelm Hildebrandt,Julia Hentschel,Emily Groopman,Julia Goodrich,Joseph G. Gleeson,Roula Ghaoui,Casie A. Genetti,Janina Gburek-Augustat,Hanna T. Gazda,Vijay S. Ganesh,Mythily Ganapathi,Lyndon Gallacher,Jack M. Fu,Emily Evangelista,Eleina England,Sandra Donkervoort,Stephanie DiTroia,Sandra T. Cooper,Wendy K. Chung,John Christodoulou,Katherine R. Chao,Liam D. Cato,Kinga M. Bujakowska,Samantha J. Bryen,Harrison Brand,Carsten G. Boennemann,Alan H. Beggs,Samantha M. Baxter,Tobias Bartolomaeus,Pankaj B. Agrawal,Michael Talkowski,Christina Austin-Tse,Rami Abou Jamra,Heidi L. Rehm,Anne O'Donnell-Luria
NEW ENGLAND JOURNAL OF MEDICINEno. 21 (2024): 1985-1997
引用10浏览0WOS引用
10
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作者统计

#Papers: 54

#Citation: 1827

H-Index: 18

G-Index: 33

Sociability: 7

Diversity: 2

Activity: 8

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