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1 . Academic Journal
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
저자
by
Boycott, Kym
;
Brudno, Michael
;
Bernier, Francois
;
van Karnebeek, Clara
;
Dyment, David
, et al.
소스
In
Genetics in Medicine
February 2024 26(2)
Full Text (ScienceDirect)
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7 . Academic Journal
Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations
저자
by
Hartley, Taila
;
Gillespie, Meredith K.
;
Graham, Ian D.
;
Hayeems, Robin Z.
;
Li, Sheena
, et al.
소스
In
Genetics in Medicine
November 2023 25(11)
Full Text (ScienceDirect)
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7 . Academic Journal
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type
저자
by
Zima, Judith
;
Eaton, Alison
;
Pál, Endre
;
Till, Ágnes
;
Ito, Yoko A.
, et al.
소스
In
European Journal of Medical Genetics
February 2020 63(2)
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7 . Academic Journal
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F
저자
by
Pál, Endre
;
Zima, Judith
;
Hadzsiev, Kinga
;
Ito, Yoko A.
;
Hartley, Taila
, et al.
소스
In
European Journal of Medical Genetics
July 2019 62(7)
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7 . Academic Journal
A 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
저자
by
Bourque, Danielle K.
;
Hartley, Taila
;
Nikkel, Sarah M.
;
Pohl, Daniela
;
Tétreault, Martine
, et al.
소스
In
European Journal of Medical Genetics
February 2018 61(2):89-93
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7 . Academic Journal
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
저자
by
Donkervoort, Sandra
;
Mohassel, Payam
;
O'Leary, Melanie
;
Bonner, Devon E.
;
Hartley, Taila
, et al.
소스
Annals of Clinical & Translational Neurology
. Mar2024, Vol. 11 Issue 3, p629-640. 12p.
Open Access (Wiley)
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7 . Academic Journal
Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach.
저자
by
de Kock, Leanne
;
Cuillerier, Alexanne
;
Gillespie, Meredith
;
Couse, Madeline
;
Hartley, Taila
, et al.
소스
American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-10, 10p
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7 . Academic Journal
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
저자
by
Hartley, Taila
;
Soubry, Élisabeth
;
Acker, Meryl
;
Osmond, Matthew
;
Couse, Madeline
, et al.
소스
Clinical Genetics
. Mar2023, Vol. 103 Issue 3, p288-300. 13p.
Web of Science
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7 . Academic Journal
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.
저자
by
Boycott, Kym M.
;
Hartley, Taila
;
Kernohan, Kristin D.
;
Dyment, David A.
;
Howley, Heather
, et al.
소스
American Journal of Human Genetics
. Nov2022, Vol. 109 Issue 11, p1947-1959. 13p.
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7 . Academic Journal
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
저자
by
Ediae, Grace Uwaila
;
Lemire, Gabrielle
;
Chisholm, Caitlin
;
Hartley, Taila
;
Eaton, Alison
, et al.
소스
American Journal of Medical Genetics. Part A; Feb2023, Vol. 191 Issue 2, p338-347, 10p
Web of Science
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