2019 - Fellow of the Royal Society of Canada Academy of Science
Kym M. Boycott performs multidisciplinary study in Gene and Computational biology in her work. In her papers, she integrates diverse fields, such as Computational biology and Bioinformatics. In her works, Kym M. Boycott performs multidisciplinary study on Bioinformatics and In silico. Her work blends In silico and Gene studies together. Exome sequencing and Exome are two areas of study in which Kym M. Boycott engages in interdisciplinary work. Kym M. Boycott conducted interdisciplinary study in her works that combined Exome and Exome sequencing. Kym M. Boycott conducts interdisciplinary study in the fields of Genetics and Immunology through her research. In her articles, Kym M. Boycott combines various disciplines, including Immunology and Genetics. Kym M. Boycott integrates many fields in her works, including Phenotype and OMIM : Online Mendelian Inheritance in Man.
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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Han-Xiang Deng;Wenjie Chen;Seong‐Tshool Hong;Seong‐Tshool Hong;Kym M Boycott.
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
Kym M. Boycott;Megan R. Vanstone;Dennis E. Bulman;Alex E. MacKenzie.
Nature Reviews Genetics (2013)
The Human Phenotype Ontology in 2017
Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster.
Nucleic Acids Research (2017)
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Jean Baptiste Rivière;Ghayda M. Mirzaa;Brian J. O'Roak;Margaret Beddaoui.
Nature Genetics (2012)
Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
Bech-Hansen Nt;Naylor Mj;Maybaum Ta;Pearce Wg;Pearce Wg.
Nature Genetics (1998)
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman.
The Matchmaker Exchange: a platform for rare disease gene discovery
Anthony A. Philippakis;Anthony A. Philippakis;Anthony A. Philippakis;Danielle R. Azzariti;Sergi Beltran;Anthony J. Brookes.
Human Mutation (2015)
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
S L Sawyer;T Hartley;D A Dyment;C L Beaulieu.
Clinical Genetics (2016)
Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies
Véronique Bolduc;Gareth Marlow;Kym M. Boycott;Khalil Saleki.
American Journal of Human Genetics (2010)
Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype
Sarah L Sawyer;Lei Tian;Marketta Kähkönen;Jeremy Schwartzentruber.
Cancer Discovery (2015)
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