User profiles for Kym M. Boycott
Kym BoycottProfessor of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa Verified email at cheo.on.ca Cited by 21239 |
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
KM Boycott, MR Vanstone, DE Bulman… - Nature Reviews …, 2013 - nature.com
Work over the past 25 years has resulted in the identification of genes responsible for ~50%
of the estimated 7,000 rare monogenic diseases, and it is predicted that most of the …
of the estimated 7,000 rare monogenic diseases, and it is predicted that most of the …
The human phenotype ontology in 2017
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic
abnormalities in which the individual components of the phenotype are observed and …
abnormalities in which the individual components of the phenotype are observed and …
[HTML][HTML] Future of rare diseases research 2017–2027: an IRDiRC perspective
…, D Ardigò, V Hivert, KM Boycott… - Clinical and …, 2018 - ncbi.nlm.nih.gov
The International Rare Diseases Research Consortium (IRDiRC) was founded in 2011 with
the conviction that rare diseases research had reached a critical juncture. Proof of principle …
the conviction that rare diseases research had reached a critical juncture. Proof of principle …
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Amyotrophic lateral sclerosis (ALS) is a paralytic and usually fatal disorder caused by motor-neuron
degeneration in the brain and spinal cord. Most cases of ALS are sporadic but about …
degeneration in the brain and spinal cord. Most cases of ALS are sporadic but about …
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus
(MPPH) syndromes are sporadic overgrowth disorders associated …
(MPPH) syndromes are sporadic overgrowth disorders associated …
Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11. 23 cause incomplete X-linked congenital stationary night blindness
…, GA Fishman, M Mets, MA Musarella, KM Boycott - Nature …, 1998 - nature.com
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal
disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and …
disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and …
[HTML][HTML] Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
…, MF Rioux, J Ragoussis, KM Boycott… - … England Journal of …, 2023 - Mass Medical Soc
Background The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular
diagnosis. Methods We sequenced the genomes of six persons with autosomal dominant LOCA …
diagnosis. Methods We sequenced the genomes of six persons with autosomal dominant LOCA …
The Matchmaker Exchange: a platform for rare disease gene discovery
There are few better examples of the need for data sharing than in the rare disease community,
where patients, physicians, and researchers must search for “the needle in a haystack” to …
where patients, physicians, and researchers must search for “the needle in a haystack” to …
[PDF][PDF] International cooperation to enable the diagnosis of all rare genetic diseases
Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with
rare genetic diseases shortens their "diagnostic odyssey," improves disease management, …
rare genetic diseases shortens their "diagnostic odyssey," improves disease management, …
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
…, Care4Rare Canada Consortium Boycott Kym 9 … - Nature medicine, 2019 - nature.com
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are
predominantly caused by mutation in a single gene 1 . The current molecular diagnostic rate is …
predominantly caused by mutation in a single gene 1 . The current molecular diagnostic rate is …