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Author Details

Taila Hartley
Children's Hospital of Eastern Ontario Research Institute
2009
75
26
PMIDPaper TitleJournal TitlePublished Year
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
37949664Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.Am J Med Genet A2024
36353900Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.Clin Genet2023
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
37077559Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor Neuropathy.Neurol Genet2023
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
34544840Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.J Med Genet2022
35607970A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome.Am J Med Genet A2022
35627257The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.Genes (Basel)2022
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
34906497The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence.Genet Med2022
35165961PhenomeCentral: 7 years of rare disease matchmaking.Hum Mutat2022
34825409Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.Ann Neurol2022
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
33596411SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.Am J Hum Genet2021
34587489ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.Am J Hum Genet2021
34796249Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.Child Neurol Open2021
31034989Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.Eur J Med Genet2020
33199684Germline AGO2 mutations impair RNA interference and human neurological development.Nat Commun2020
33163565Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.Mov Disord Clin Pract2020
32747765Application of exome sequencing for prenatal diagnosis: a rapid scoping review.Genet Med2020
32283948New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.Annu Rev Genomics Hum Genet2020
31587668Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada.Can J Neurol Sci2020
30773799NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.Am J Med Genet A2019
30245512Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases.Genet Med2019
31239560The value of diagnostic testing for parents of children with rare genetic diseases.Genet Med2019
31316168Correction: The value of diagnostic testing for parents of children with rare genetic diseases.Genet Med2019
31392718p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.Clin Genet2019
31071488A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.Eur J Med Genet2019
28708278Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.Clin Genet2018
30220433ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.Am J Hum Genet2018
30160830Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.Am J Med Genet A2018
29961568De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.Am J Hum Genet2018
30065956Novel <i>ELOVL4</i> mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34).Neurol Genet2018
30580481The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.Am J Med Genet C Semin Med Genet2018
30643851Lysosomal dysfunction in <i>TMEM106B</i> hypomyelinating leukodystrophy.Neurol Genet2018
30388400Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.Am J Hum Genet2018
29247375A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.Neurogenetics2018
29193559Evaluation of exome filtering techniques for the analysis of clinically relevant genes.Hum Mutat2018
29066376A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.Eur J Med Genet2018
27633801A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.Am J Med Genet A2017
28488422Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.Am J Med Genet A2017
28170084Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.Clin Genet2017
28228640Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.J Hum Genet2017
28334793Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.Hum Mol Genet2017
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Collaborators

Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 63
Lijia Huang
Children's Hospital of Eastern Ontario (CHEO)
Co-authored papers 9
Julie Richer
University of Ottawa, Canada Children's Hospital of Eastern Ontario
Co-authored papers 8
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 7
Chandree L Beaulieu
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Co-authored papers 6
Michael Brudno
University of Toronto
Co-authored papers 6
Aren E Marshall
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Co-authored papers 5
Hugh J McMillan
Montreal Children's Hospital, McGill University
Co-authored papers 4
Orion J Buske
The Hospital for Sick Children
Co-authored papers 4
Guy A Rouleau
McGill University, Canada Montreal Neurological Institute and Hospital
Co-authored papers 3
Peter N Robinson
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
Bridget A Fernandez
Memorial University of Newfoundland
Co-authored papers 3
Bartha Maria Knoppers
McGill University
Co-authored papers 3
Sergiu Dumitriu
DATA Team and Techna Institute, University Health Network
Co-authored papers 3
Marta Girdea
DATA Team and Techna Institute, University Health Network
Co-authored papers 3
Christian R Marshall
Co-authored papers 3
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 3
Shalini N Jhangiani
Baylor College of Medicine
Co-authored papers 2
Anne-Marie Laberge
UNIVERSITY OF MONTREAL
Co-authored papers 2
Nara Sobreira
Johns Hopkins University
Co-authored papers 2
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 2
Andriy Misyura
The Hospital for Sick Children
Co-authored papers 2
Michael J Bamshad
University of Washington
Co-authored papers 2
Asif Doja
University of Ottawa
Co-authored papers 2
Ghayda M Mirzaa
Seattle Children's Hospital.
Co-authored papers 2
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 2
Joseph G Gleeson
University of California
Co-authored papers 2
Lauren Chad
Hospital for Sick Children, Canada University of Toronto
Co-authored papers 2
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 2
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 2
Release 1.2