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T Hartley

Explore the profile of T Hartley including associated specialties, affiliations and a list of published articles. Areas
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Articles 24
Citations 935
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Recent Articles
1.
Backman K, Mears W, Waheeb A, Beaulieu Bergeron M, McClintock J, de Nanassy J, et al.
Eur J Med Genet . 2021 Mar; 64(5):104193. PMID: 33746037
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder of motile cilia. With few exceptions, PCD is an autosomal recessive condition, and there are over 40 genes associated with the...
2.
Zambonin J, Dyment D, Xi Y, Lamont R, Hartley T, Miller E, et al.
Neurogenetics . 2017 Dec; 19(1):61-65. PMID: 29247375
Occipital cortical malformation is a rare neurodevelopmental disorder characterized by pachygyria and polymicrogyria of the occipital lobes as well as global developmental delays and seizures. This condition is due to...
3.
Hartley T, Wagner J, Warman-Chardon J, Tetreault M, Brady L, Baker S, et al.
Clin Genet . 2017 Jul; 93(2):301-309. PMID: 28708278
The inherited peripheral neuropathies (IPNs) are characterized by marked clinical and genetic heterogeneity and include relatively frequent presentations such as Charcot-Marie-Tooth disease and hereditary motor neuropathy, as well as more...
4.
Balci T, Hartley T, Xi Y, Dyment D, Beaulieu C, Bernier F, et al.
Clin Genet . 2017 Feb; 92(3):281-289. PMID: 28170084
Background: Recent clinical whole exome sequencing (WES) cohorts have identified unanticipated multiple genetic diagnoses in single patients. However, the frequency of multiple genetic diagnoses in families is largely unknown. Aims:...
5.
Sawyer S, Hartley T, Dyment D, Beaulieu C, Schwartzentruber J, Smith A, et al.
Clin Genet . 2015 Aug; 89(3):275-84. PMID: 26283276
An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole-exome sequencing (WES), are identifying the genetic basis...
6.
Perks T, Dendere R, Irving B, Hartley T, Scholtz P, Lawson A, et al.
Radiat Prot Dosimetry . 2014 Nov; 167(4):552-61. PMID: 25433049
This paper describes modelling, application and validation of a filtration technique for a linear slot-scanning digital X-ray system to reduce radiation dose to paediatric patients while preserving diagnostic image quality....
7.
Dyment D, Tetreault M, Beaulieu C, Hartley T, Ferreira P, Chardon J, et al.
Clin Genet . 2014 Jul; 88(1):34-40. PMID: 25046240
Whole-exome sequencing (WES) has transformed our ability to detect mutations causing rare diseases. FORGE (Finding Of Rare disease GEnes) and Care4Rare Canada are nation-wide projects focused on identifying disease genes...
8.
Perks T, Trauernicht C, Hartley T, Hobson C, Lawson A, Scholtz P, et al.
Annu Int Conf IEEE Eng Med Biol Soc . 2013 Oct; 2013:2332-5. PMID: 24110192
This paper examines the effect that a 1.8 mm aluminium filter has on paediatric patient dose and image quality for linear slot scanning radiography (LSSR). A dynamic dose prediction model...
9.
King J, Hartley T, Spiers H, Maguire E, Burgess N
Neuroimage . 2005 Jul; 28(1):256-67. PMID: 16027012
Different patterns of prefrontal activation are commonly found in studies of episodic and source memory (typically anterior and lateral) compared to those found in studies of autobiographical memory (typically ventromedial)....
10.
Blaber A, Hartley T, Pretorius P
J Appl Physiol (1985) . 2003 Apr; 95(2):591-601. PMID: 12716872
Orthostatic reflexes were examined at 375 m and after 60 min of exposure in a hypobaric chamber at 3660 m using a 20-min 70 degrees head-up tilt (HUT) test. Mean...