Chrome Extension
WeChat Mini Program
Use on ChatGLM
VIPCreated with Sketch.
Research Interests

Papers共 52 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
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)
Cited0Views0WOSBibtex
0
0
MBOAT7 Encephalopathy: Characterizing the Neurology and Epileptology
Sebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss,Tobias Bartolomaeus, Maria Escolar,Geneviève Bernard, Ralitza Gavrilova, Rebecca Ahrens-Nicklas,Gabrielle Lemire,Kym M Boycott, Saadet Mercimek-Andrews,Paolo Prontera,Cinzia Costa, Bojana Rakic,Cornelius F Boerkoel, Stephanie Huynh, Linda Huh, Elliott Sherr,Emanuela Argilli,Juan Darío Ortigoza-Escobar, Didac Casas-Alba, Tania Nunes,David A Koolen,Konrad Platzer, Marianne S Khinchi,Elena Gardella,Christina D Fenger,Rikke S Møller,Allan Bayat
Epilepsia (2025)
Cited0Views0WOSBibtex
0
0
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
Cited3Views0WOSNATUREBibtex
3
0
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
Cited10Views0WOSBibtex
10
0
Load More
Author Statistics

#Papers: 52

#Citation: 457

H-Index: 13

G-Index: 20

Sociability: 7

Diversity: 2

Activity: 60

  • 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