World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
79
Citations
23635
World Ranking
1637
National Ranking
58

Research.com Recognitions

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

Overview

Kym M. Boycott is affiliated with the Children's Hospital of Eastern Ontario in Canada. Their research primarily focuses on the intersection of genetics, molecular biology, and medical applications, with a particular emphasis on rare genetic diseases and neurological disorders.

The scientist has contributed extensively to fields including:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these fields, their work spans several subfields such as:

  • Genetics
  • Molecular Biology
  • Cellular and Molecular Neuroscience
  • Neurology
  • Cancer Research

Major topics addressed in their research encompass:

  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • Cancer Genomics and Diagnostics
  • Neurogenetic and Muscular Disorders Research
  • Genetic factors in colorectal cancer
  • Genetic Neurodegenerative Diseases

Kym M. Boycott has authored a number of papers in prominent journals, including:

  • "Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia" (2022), New England Journal of Medicine
  • "Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders" (2021), Human Genetics and Genomics Advances
  • "New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases" (2020), Annual Review of Genomics and Human Genetics
  • "Germline AGO2 mutations impair RNA interference and human neurological development" (2020), Nature Communications
  • "Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders" (2022), Human Mutation

Frequent co-authors collaborating with Boycott include:

  • Kristin D. Kernohan
  • Taila Hartley
  • Robin Z. Hayeems
  • David A. Dyment
  • Meredith Gillespie

The scientist's work often appears in specialized publication venues such as:

  • Genetics in Medicine Open
  • American Journal of Medical Genetics Part A
  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • The American Journal of Human Genetics

Kym M. Boycott has been recognized as a Fellow of the Royal Society of Canada by the Academy of Science in 2019.

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

  • 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

  • The Human Phenotype Ontology in 2017

    Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  • 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

  • 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

  • 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

  • International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

    Kym M. Boycott;Ana Rath;Jessica X. Chong;Taila Hartley

  • 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

  • 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

  • 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

  • Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

    Sarah L Sawyer;Lei Tian;Marketta Kähkönen;Jeremy Schwartzentruber

  • Mutations in EZH2 cause Weaver syndrome.

    William T. Gibson;William T. Gibson;Rebecca L. Hood;Rebecca L. Hood;Shing Hei Zhan;Dennis E. Bulman

  • SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

    Julien H. Park;Max Hogrebe;Marianne Grüneberg;Ingrid DuChesne

  • FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

    Chandree L. Beaulieu;Jacek Majewski;Jeremy Schwartzentruber;Mark E. Samuels

  • Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

    Laure Frésard;Craig Smail;Nicole M. Ferraro;Nicole A. Teran

  • An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

    Gabrielle Wheway;Miriam Schmidts;Dorus A. Mans;Katarzyna Szymanska

  • PhenoTips: patient phenotyping software for clinical and research use.

    Marta Girdea;Sergiu Dumitriu;Marc Fiume;Sarah Bowdin

  • Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.

    Kym M. Boycott;Shauna Flavelle;Alexandre Bureau;Alexandre Bureau;Hannah C. Glass

  • TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

    Lijia Huang;Katarzyna Szymanska;Victor L. Jensen;Andreas R. Janecke

  • Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

    Kym M. Boycott;Chandree L. Beaulieu;Kristin D. Kernohan;Ola H. Gebril

Frequent Co-Authors

Jacek Majewski
Jacek Majewski McGill University
David A. Dyment
David A. Dyment University of Ottawa
Dennis E. Bulman
Dennis E. Bulman Children's Hospital of Eastern Ontario
Jeremy Schwartzentruber
Jeremy Schwartzentruber Wellcome Sanger Institute
A. Micheil Innes
A. Micheil Innes University of Calgary
Guy A. Rouleau
Guy A. Rouleau Montreal Neurological Institute and Hospital
Alex MacKenzie
Alex MacKenzie Children's Hospital of Eastern Ontario
Bartha Maria Knoppers
Bartha Maria Knoppers McGill University Health Centre
Michael Brudno
Michael Brudno University of Toronto
Jacques L. Michaud
Jacques L. Michaud University of Montreal

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

As the field of Genetics evolves, students can explore a range of online schools for medical billing and coding. These programs offer a practical entry point into healthcare environments where genetic knowledge is increasingly valuable.

For those eager to advance quickly, various fast track school programs allow students to complete degrees in less time than traditional paths. This can be ideal for learners seeking to enter the workforce or pivot their careers efficiently.

Flexibility is key in education today. Many learners benefit from enrolling in self paced online colleges, which empower students to match coursework with their personal schedules. This is especially beneficial for working professionals or parents balancing multiple responsibilities.

Cost-conscious students may also appreciate the growing number of online colleges with free applications. Applying to these institutions reduces initial expenses and removes barriers for those interested in pursuing genetics-related fields or complimentary healthcare programs online.

Best Scientists Citing Kym M. Boycott

Trending Scientists

Recently Published Articles