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Papers共 23 篇Author StatisticsCo-AuthorSimilar Experts

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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
Cited3Views0WOSNATUREBibtex
3
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Standardized Practices for RNA Diagnostics Using Clinically Accessible Specimens Reclassifies 75% of Putative Splicing Variants
Adam M. Bournazos,Lisa G. Riley,Shobhana Bommireddipalli,Lesley Ades,Lauren S. Akesson,Mohammad Al-Shinnag,Stephen Alexander,Alison D. Archibald,Shanti Balasubramaniam,Yemima Berman,Victoria Beshay,Kirsten Boggs,Jasmina Bojadzieva,Natasha J. Brown,Samantha J. Bryen,Michael F. Buckley,Belinda Chong,Mark R. Davis,Ruebena Dawes,Martin Delatycki,Liz Donaldson,Lilian Downie,Caitlin Edwards,Matthew Edwards, Amanda Engel,Lisa J. Ewans,Fathimath Faiz,Andrew Fennell,Michael Field,Mary-Louise Freckmann,Lyndon Gallacher,Russell Gear,Himanshu Goel,Shuxiang Goh,Linda Goodwin,Bernadette Hanna,James Harraway,Megan Higgins,Gladys Ho,Bruce K. Hopper,Ari E. Horton,Matthew F. Hunter,Aamira J. Huq,Sarah Josephi-Taylor,Himanshu Joshi,Edwin Kirk,Emma Krzesinski,Kishore R. Kumar,Frances Lemckert,Richard J. Leventer,Suzanna E. Lindsey-Temple,Sebastian Lunke,Alan Ma, Steven Macaskill,Amali Mallawaarachchi,Melanie Marty,Justine E. Marum,Hugh J. McCarthy,Manoj P. Menezes,Alison McLean,Di Milnes,Shekeeb Mohammad,David Mowat,Aram Niaz,Elizabeth E. Palmer,Chirag Patel,Shilpan G. Patel,Dean Phelan,Jason R. Pinner,Sulekha Rajagopalan,Matthew Regan,Jonathan Rodgers,Miriam Rodrigues,Richard H. Roxburgh,Rani Sachdev,Tony Roscioli, Ruvishani Samarasekera,Sarah A. Sandaradura,Elena Savva,Tim Schindler,Margit Shah,Ingrid B. Sinnerbrink,Janine M. Smith,Richard J. Smith,Amanda Springer,Zornitza Stark,Samuel P. Strom,Carolyn M. Sue,Kenneth Tan,Tiong Y. Tan,Esther Tantsis,Michel C. Tchan,Bryony A. Thompson,Alison H. Trainer,Karin Van Spaendonck-Zwarts,Rebecca Walsh,Linda Warwick,Stephanie White,Susan M. White,Mark G. Williams,Meredith J. Wilson, Wui Kwan Wong,Dale C. Wright,Patrick Yap,Alison Yeung,Helen Young,Kristi J. Jones,Bruce Bennetts,Sandra T. Cooper
Genetics in medicineno. 1 (2022): 130-145
Cited59Views0WOSBibtex
59
0
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Author Statistics

#Papers: 23

#Citation: 445

H-Index: 9

G-Index: 17

Sociability: 6

Diversity: 2

Activity: 6

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