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

Papers共 81 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
RNA Sequencing Driven Diagnosis Expands the Phenotypic Spectrum of NBAS Deficiency
Sarah Silverstein, Thomas Cassini, Jiayu Fu, Barbara Pusey,Ellen Macnamara, F Graeme Frost, Charlotte Williams, Yan Huang,Cynthia J Tifft, Undiagnosed Diseases Network, William Gahl,May-Christine Malicdan,David R Adams
Molecular genetics and metabolismno. 1 (2025): 109105-109105
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
P280: Expansion of TAOK1 Related Developmental Delay Phenotype
Riley Johnson,Lynne Wolfe,Ellen Macnamara,David Adams
Genetics in Medicine Open (2024): 101176
Cited0Views0Bibtex
0
0
Load More
Author Statistics

#Papers: 81

#Citation: 1175

H-Index: 20

G-Index: 32

Sociability: 7

Diversity: 3

Activity: 25

  • 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