基本信息
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职业迁徙
个人简介
Since 2004, Helen has collaborated with researchers at the Wellcome Sanger Institute and elsewhere to investigate how the application of new genomic technologies can improve the diagnosis of severe developmental disorders. Helen has been central to the development of the DECIPHER database and Deciphering Developmental Disorders (DDD) project.
研究兴趣
论文共 242 篇作者统计合作学者相似作者
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Yongxiang Li,Tessa M. Cacciottolo,Na Yin,Yang He,Hesong Liu,Hailan Liu,Yuxue Yang,Elana Henning,Julia M. Keogh,Katherine Lawler,Edson Mendes de Oliveira,Eugene J. Gardner,Katherine A. Kentistou,Panayiotis Laouris,Rebecca Bounds,Ken K. Ong,John R. B. Perry,Ines Barroso,Longlong Tu,Jonathan C. Bean,Meng Yu,Kristine M. Conde,Mengjie Wang, Olivia Ginnard, Xing Fang, Lydia Tong,Junying Han, Tia Darwich, Kevin W. Williams, Yongjie Yang,Chunmei Wang,Shelagh Joss,Helen V. Firth,Yong Xu,I. Sadaf Farooqi
Cellno. 16 (2024): 4176-4192.e17
BMJ Openno. 5 (2024): e085237-e085237
Morad Ansari,Kamli N. W. Faour,Akiko Shimamura,Graeme Grimes, Emeline M. Kao,Erica R. Denhoff,Ana Blatnik,Daniel Ben-Isvy,Lily Wang,Benjamin M. Helm,Helen Firth,Amy M. Breman,Emilia K. Bijlsma,Aiko Iwata-Otsubo,Thomy J. L. de Ravel,Vincent Fusaro,Alan Fryer,Keith Nykamp,Lara G. Stuhn,Tobias B. Haack,G. Christoph Korenke,Panayioti Constantinou, Kinga M. Bujakowksa,Karen J. Low,Emily Place,Jennifer Humberson,Melanie P. Napier,Jessica Hoffman,Jane Juusola,Matthew A. Deardorff,Wanqing Shao,Shira Rockowitz,Ian Krantz,Maninder Kaur,Sarah Raible, Victoria Dortenzio,Sabine Kliesch,Moriel Singer-Berk,Emily Groopman,Stephanie DiTroia,Sonia Ballal,Siddharth Srivastava, Kathrin Rothfelder,Saskia Biskup,Jessica Rzasa,Jennifer Kerkhof,Haley McConkey,Bekim Sadikovic,Sarah Hilton,Siddharth Banka,Frank Tuettelmann,Donald F. Conrad,Anne O'Donnell-Luria,Michael E. Talkowski,David R. Fitzpatrick,Philip M. Boone
HUMAN GENETICS AND GENOMICS ADVANCESno. 2 (2024)
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 434-434
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Marina DiStefano,Fowzan Alkuraya,Joanna Amberger,Christina Austin-Tse, Ola Austine,Marie Balzotti,Jonathan Berg,Elspeth Bruford,Alicia Byrne, Elena Cibrian-Uhalte,Alison Coffey,Helen Firth,Ada Hamosh,Sarah Hunt,Teri Klein, Catherine Kurtz,Sarah Leigh,Ivone Leong,Caterina Lucano,Sateesh Maddirevula
Genetics in Medicine Open (2024): 101476
V. Kartik Chundru,Zhancheng Zhang,Klaudia Walter,Sarah J. Lindsay,Petr Danecek,Ruth Y. Eberhardt,Eugene J. Gardner,Daniel S. Malawsky,Emilie M. Wigdor,Rebecca Torene,Kyle Retterer,Caroline F. Wright, Hildur Olafsdottir,Maria J. Guillen Sacoto,Akif Ayaz, Ismail Hakki Akbeyaz,Dilsad Tuerkdogan, Aaisha Ibrahim Al Balushi,Aida Bertoli-Avella,Peter Bauer,Emmanuelle Szenker-Ravi,Bruno Reversade,Kirsty Mcwalter,Eamonn Sheridan,Helen V. Firth,Matthew E. Hurles,Kaitlin E. Samocha, Vincent D. Ustach,Hilary C. Martin
Jeremy A Arbesfeld, Estelle Y Da,James S Stevenson,Kori Kuzma, Anika Paul, Tierra Farris, Benjamin J Capodanno, Sally B Grindstaff,Kevin Riehle,Nuno Saraiva-Agostinho,Jordan F Safer,Aleksandar Milosavljevic,Julia Foreman,Helen V Firth,Sarah E Hunt,Sumaiya Iqbal,Melissa S Cline,Alan F Rubin,Alex H Wagner
bioRxiv the preprint server for biology (2024)
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作者统计
#Papers: 240
#Citation: 16257
H-Index: 56
G-Index: 127
Sociability: 8
Diversity: 3
Activity: 89
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