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Author Details

Kym M Boycott
Children's Hospital of Eastern Ontario
1996
276
56
PMIDPaper TitleJournal TitlePublished Year
37921537Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.Am J Med Genet A2024
37962958Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.J Clin Invest2024
37904029Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.J Hum Genet2024
37795829Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia.Am J Med Genet A2024
37949664Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.Am J Med Genet A2024
38050708RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.Am J Med Genet A2024
37924259Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.Genet Med2024
36353900Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.Clin Genet2023
37489014RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.Mol Genet Genomic Med2023
37621218Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.Am J Med Genet A2023
37551668Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations.Genet Med2023
37577458Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response.medRxiv2023
37923733Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.Nat Commun2023
37425777A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locus.bioRxiv2023
37159433Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in PIEZO1.Am J Med Genet A2023
37453830Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.Clin Ther2023
37211972Precision medicine in rare diseases: What is next?J Intern Med2023
37077559Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor Neuropathy.Neurol Genet2023
37029233Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping Review.Pharmacoeconomics2023
36995918RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.Am J Med Genet A2023
36516086Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.N Engl J Med2023
36331261The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.Am J Med Genet A2023
34542157Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.Hum Mol Genet2022
35351177Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.Orphanet J Rare Dis2022
35609929Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.CMAJ Open2022
35471564Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.Ann Neurol2022
35607970A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome.Am J Med Genet A2022
35537081Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.Hum Mutat2022
35603789Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.JCI Insight2022
35487127Genetic, structural and clinical analysis of spastic paraplegia 4.Parkinsonism Relat Disord2022
35904121Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.Hum Mutat2022
36067766The recurrent de novo c.2011C&gt;T missense variant in MTSS2 causes syndromic intellectual disability.Am J Hum Genet2022
36332614The recurrent de novo c.2011C&gt;T missense variant in MTSS2 causes syndromic intellectual disability.Am J Hum Genet2022
36332610Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.Am J Hum Genet2022
36168523Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development.Hemasphere2022
36216418Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation.BMJ Open2022
35181971Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.Hum Mutat2022
35147173Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.Hum Mol Genet2022
34906497The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence.Genet Med2022
34906460Correspondence on "cost or price of sequencing? implications for economic evaluations in genomic medicine" by Grosse and Gudgeon.Genet Med2022
35165961PhenomeCentral: 7 years of rare disease matchmaking.Hum Mutat2022
34825409Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.Ann Neurol2022
34544840Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.J Med Genet2022
33098347Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.Am J Med Genet A2021
33576074Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.Clin Genet2021
33743206A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.Am J Hum Genet2021
33601405Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.Hum Mol Genet2021
33598982Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.Mov Disord2021
33649541Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.Eur J Hum Genet2021
33596411SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.Am J Hum Genet2021
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Collaborators

Taila Hartley
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 63
Chandree L Beaulieu
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Co-authored papers 40
Lijia Huang
Children's Hospital of Eastern Ontario (CHEO)
Co-authored papers 24
Hugh J McMillan
Montreal Children's Hospital, McGill University
Co-authored papers 15
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 13
Julie Richer
University of Ottawa, Canada Children's Hospital of Eastern Ontario
Co-authored papers 13
Michael Brudno
University of Toronto
Co-authored papers 13
Guy A Rouleau
McGill University, Canada Montreal Neurological Institute and Hospital
Co-authored papers 12
Bartha Maria Knoppers
McGill University
Co-authored papers 12
Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 11
Aren E Marshall
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Co-authored papers 11
Christian R Marshall
Co-authored papers 11
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 10
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 8
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 8
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 7
Robert A Hegele
Co-authored papers 7
Christopher P Austin
St. George's University Medical School
Co-authored papers 7
Charles E Schwartz
Co-authored papers 7
Petra Kaufmann
Novartis Gene Therapies
Co-authored papers 7
Carole Ober
University of Chicago
Co-authored papers 6
Hugh Dawkins
The University of Notre Dame Australia
Co-authored papers 6
Orion J Buske
The Hospital for Sick Children
Co-authored papers 6
Peter N Robinson
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 6
Erik G Puffenberger
Co-authored papers 6
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 5
Jennifer E Posey
Baylor College of Medicine
Co-authored papers 5
Wendy J Ungar
The Hospital for Sick Children
Co-authored papers 5
Melissa A Haendel
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
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