D-Index & Metrics Best Publications

Kym M. Boycott

Children's Hospital of Eastern Ontario
Canada

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Genetics D-index 65 Citations 16,016 278 World Ranking 1901 National Ranking 62

Research.com Recognitions

Awards & Achievements

2019 - Fellow of the Royal Society of Canada Academy of Science

Overview

What are the main themes of her work throughout her whole career to date

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.

Kym M. Boycott most often published in these fields:

Gene (100.00%)
Exome sequencing (100.00%)
Genetics (100.00%)

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

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.
Nature (2011)

1216 Citations

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)

763 Citations

The Human Phenotype Ontology in 2017

Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster.
Nucleic Acids Research (2017)

677 Citations

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)

639 Citations

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)

619 Citations

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.
(2014)

426 Citations

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)

385 Citations

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)

339 Citations

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)

297 Citations

Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype