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Taila Hartley

Explore the profile of Taila Hartley including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 79
Citations 1593
Followers 0
Related Specialties
Genetics
Neurology
Molecular Biology
Top 10 Co-Authors
Kym M Boycott
David A Dyment
Kristin D Kernohan
Christine M Armour
Martine Tetreault
Jacek Majewski
A Micheil Innes
Lijia Huang
Matthew Osmond
Meredith K Gillespie
Published In
Am J Hum Genet
Am J Med Genet A
Genet Med
Hum Mutat
Neurol Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants
Haque B, Cheerie D, Pan A, Curtis M, Nalpathamkalam T, Nguyen J, et al.
PLoS Genet . 2025 Jan; 21(1):e1011540. PMID: 39761285
Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that...
2.
Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?
Degeling K, Tagimacruz T, MacDonald K, Seeger T, Fooks K, Venkataramanan V, et al.
Appl Health Econ Health Policy . 2024 Dec; PMID: 39739296
Background: Patients with suspected rare diseases often experience lengthy and uncertain diagnostic pathways. This study aimed to estimate the cost-effectiveness of exome sequencing (ES) in different positions in the diagnostic...
3.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
Donkervoort S, Mohassel P, OLeary M, Bonner D, Hartley T, Acquaye N, et al.
Ann Clin Transl Neurol . 2024 Feb; 11(3):629-640. PMID: 38311799
Objective: ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants...
4.
Biallelic Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction
Warman-Chardon J, Hartley T, Marshall A, McBride A, Couse M, MacDonald W, et al.
Neurol Genet . 2024 Jan; 9(5):e200088. PMID: 38235364
Background And Objectives: The human genome contains ∼20,000 genes, each of which has its own set of complex regulatory systems to govern precise expression in each developmental stage and cell...
5.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach
de Kock L, Cuillerier A, Gillespie M, Couse M, Hartley T, Mears W, et al.
Am J Med Genet A . 2023 Nov; 194(3):e63466. PMID: 37949664
Activating variants in the PIK3CA gene cause a heterogeneous spectrum of disorders that involve congenital or early-onset segmental/focal overgrowth, now referred to as PIK3CA-related overgrowth spectrum (PROS). Historically, the clinical...
6.
Evaluation 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
Hartley T, Marshall D, Acker M, Fooks K, Gillespie M, Price E, et al.
Genet Med . 2023 Nov; 26(2):101012. PMID: 37924259
Purpose: To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases. Methods: We prospectively enrolled 297 probands who met eligibility criteria...
7.
Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations
Hartley T, Gillespie M, Graham I, Hayeems R, Li S, Sampson M, et al.
Genet Med . 2023 Aug; 25(11):100948. PMID: 37551668
Purpose: Exome and genome sequencing have rapidly transitioned from research methods to widely used clinical tests for diagnosing rare genetic diseases. We sought to synthesize the topics covered and appraise...
8.
Novel Homozygous Variant in in Siblings With Hereditary Motor Neuropathy
Smith I, Pileggi C, Wang Y, Kernohan K, Hartley T, McMillan H, et al.
Neurol Genet . 2023 Apr; 9(1):e200048. PMID: 37077559
Background And Objectives: Coenzyme Q (CoQ) is an important electron carrier and antioxidant. The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 (DMQ), the second-to-last step in the CoQ biosynthesis pathway....
9.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
Hartley T, Soubry E, Acker M, Osmond M, Couse M, Gillespie M, et al.
Clin Genet . 2022 Nov; 103(3):288-300. PMID: 36353900
We examined the utility of clinical and research processes in the reanalysis of publicly-funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we recruited 287 families...
10.
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery
Boycott K, Hartley T, Kernohan K, Dyment D, Howley H, Innes A, et al.
Am J Hum Genet . 2022 Nov; 109(11):1947-1959. PMID: 36332610
The past decade has witnessed a rapid evolution in rare disease (RD) research, fueled by the availability of genome-wide (exome and genome) sequencing. In 2011, as this transformative technology was...