基本信息
views: 23

Bio
Dr. Boycott is a Tier 1 Canada Research Chair in Rare Disease Precision Health whose research program bridges clinical genomics to basic research and is focused on understanding the molecular pathogenesis of rare diseases to improve patient care and family well-being. She leads the national Care4Rare Canada Consortium integrating genomic and other –omic technologies to improve our understanding of rare disease, with a particular focus on solving the unsolved and most difficult rare diseases. To leverage these discoveries, she co-leads the Canadian Rare Diseases: Models & Mechanisms Network, established to catalyze connections between newly discovered rare disease genes and basic scientists who can rapidly study them in model systems. Globally, she moves the rare disease agenda forward as part of the Global Commission to End the Diagnostic Odyssey for Children.
Research Interests
Papers共 468 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
Pleuntje J. van der Sluijs,Sebastien Moutton,Alexander J. M. Dingemans,Denisa Weis,Michael A. Levy,Kym M. Boycott,Claudia Arberas,Margherita Baldassarri,Claire Beneteau,Alfredo Brusco,Charles Coutton,Tabib Dabir,Maria L. Dentici,Koenraad Devriendt,Laurence Faivre,Mieke M. van Haelst,Khadije Jizi, Marlies J. Kempers,Jennifer Kerkhof,Mira Kharbanda,Katherine Lachlan,Nathalie Marle,Haley Mcconkey,Maria A. Mencarelli,David. Mowat,Marcello Niceta,Claire Nicolas,Antonio Novelli,Valeria Orlando,Olivier Pichon,Julia Rankin,Raissa. Relator,Fabienne G. Ropers,Jill A. Rosenfeld,Rani Sachdev,Sarah A. Sandaradura, Elena Shukarova-Angelovska,Duco Steenbeek,Marco Tartaglia, Matthew A. Tedder,Slavica Trajkova,Norbert Winer,Jeremy Woods,Bert B. A. de Vries,Bekim Sadikovic,Marielle Alders,Gijs W. E. Santen
Leanne de Kock, Macarena Nougues, Madeline Couse, Wendy Mears, Alison J Eaton,Kristin D Kernohan, CareRare Canada Consortium,Margarita Larralde,Kym M Boycott
American journal of medical genetics Part App.e64046-e64046, (2025)
The Lancet (2025)
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)
Erin Venti, Diane Masser-Frye,Miguel Del Campo, Marilyn Jones,Mario Cornejo-Olivas, Alid Manrique Palomino, Milagros Duenas-Roque, Gioconda Manassero-Morales, Jeny Bazalar-Montoya,Richard Rodriguez, Hildegard Peña Salguero, Mitzy Cervantes,Aime Lumaka,Gerrye Mubungu, Prince Makay, Mamy Ngole, Prosper Tshilobo Lukusa, Samuel Wiafe, Trudy Nyakambangwe, Patience Kuona, Gwen Kandawasvika, Nothando Napata,Adeline Vanderver,Omar Sherbini,Amy Pizzino,Donald Basel,Julie McCarrier,Marwan Shinawi, Nora Urraca, Chester Brown,Fabio Sirchia,Elisa Giorgio,Alan Taylor, Shruti Shenbagam,Ahmad Abou Tayoun, Erin Royer, Lindsey Schmidt,Denise Perry,Akanchha Kesari,Christian Marshall, Anna Pan,Kym Boycott, Meredith Gillespie,Caitlin Chisholm,Vaidehi Jobanputra,Ashley Wilson, Lena Fielding,David Schlesinger, Fernando Kok, Sharon Terry,Ryan Taft
Genetics in Medicine Open (2025): 102126
Cited0Views0Bibtex
0
0
Rebekah Rushforth,Hanan E Shamseldin, Nicole Costantino, Jes-Rite Michaels,Sarah L Sawyer,Matthew Osmond,Wesam Kurdi,Firdous Abdulwahab,Andrew DiStasio,CareRare Canada Consortium,Kym M Boycott,Fowzan S Alkuraya,Rolf W Stottmann
medRxiv the preprint server for health sciences (2025)
Giulia F Del Gobbo,Kym M Boycott
Genome researchno. 4 (2025): 559-571
Robin Z. Hayeems,Stephanie Luca,Bowen Xiao, Christie Boswell-Patterson,Carolina Lavin Venegas, Clarissa R. Abi Semaan, Tessa Kolar,Diane Myles-Reid,Lauren Chad,David Dyment,Kym M. Boycott,Joanna Lazier,Wendy J. Ungar,Christine M. Armour
David Pellerin,Giulia F. Del Gobbo,Madeline Couse,Egor Dolzhenko, Sathiji K. Nageshwaran,Warren A. Cheung,Isaac R. L. Xu,Marie-Josee Dicaire, Guinevere Spurdens,Gabriel Matos-Rodrigues,Igor Stevanovski,Carolin K. Scriba,Adriana Rebelo,Virginie Roth,Marion Wandzel,Celine Bonnet,Catherine Ashton, Aman Agarwal,Cyril Peter, Dan Hasson,Nadejda M. Tsankova,Ken Dewar,Phillipa J. Lamont,Nigel G. Laing,Mathilde Renaud,Henry Houlden,Matthis Synofzik,Karen Usdin,Andre Nussenzweig,Marek Napierala,Zhao Chen,Hong Jiang,Ira W. Deveson,Gianina Ravenscroft,Schahram Akbarian,Michael A. Eberle,Kym M. Boycott,Tomi Pastinen,Bernard Brais,Stephan Zuchner,Matt C. Danzi
NATURE GENETICSno. 7 (2024)
Load More
Author Statistics
#Papers: 471
#Citation: 18445
H-Index: 69
G-Index: 124
Sociability: 8
Diversity: 3
Activity: 51
Co-Author
Co-Institution
D-Core
- 合作者
- 学生
- 导师
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