Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 242

1.

Bound together: Social binding leads to faster processing, spatial distortion, and enhanced memory of interacting partners.

Vestner T, Tipper SP, Hartley T, Over H, Rueschemeyer SA.

J Exp Psychol Gen. 2019 Jan 17. doi: 10.1037/xge0000545. [Epub ahead of print]

PMID:
30652892
2.

Intermittent Use of Portable NIV Increases Exercise Tolerance in COPD: A Randomised, Cross-Over Trial.

Vogiatzis I, Chynkiamis N, Armstrong M, Lane ND, Hartley T, Gray WK, Bourke SC.

J Clin Med. 2019 Jan 15;8(1). pii: E94. doi: 10.3390/jcm8010094.

3.

Shift Work and Biomarkers of Subclinical Cardiovascular Disease: The BCOPS Study.

Holst MM, Wirth MD, Mnatsakanova A, Burch JB, Charles LE, Tinney-Zara C, Fekedulegn D, Andrew ME, Hartley TA, Violanti JM.

J Occup Environ Med. 2019 Jan 9. doi: 10.1097/JOM.0000000000001541. [Epub ahead of print]

PMID:
30649009
4.

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy.

Ito Y, Hartley T, Baird S, Venkateswaran S, Simons C, Wolf NI, Boycott KM, Dyment DA, Kernohan KD.

Neurol Genet. 2018 Nov 13;4(6):e288. doi: 10.1212/NXG.0000000000000288. eCollection 2018 Dec. No abstract available.

5.

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.

Hartley T, Balcı TB, Rojas SK, Eaton A, Canada CR, Dyment DA, Boycott KM.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):458-463. doi: 10.1002/ajmg.c.31662.

PMID:
30580481
6.

Shoulder extension strength: a potential risk factor for shoulder pain in young swimmers?

McLaine SJ, Bird ML, Ginn KA, Hartley T, Fell JW.

J Sci Med Sport. 2018 Nov 20. pii: S1440-2440(18)31142-3. doi: 10.1016/j.jsams.2018.11.008. [Epub ahead of print]

PMID:
30482448
7.

Specialist emergency care and COPD outcomes.

Lane ND, Brewin K, Hartley TM, Gray WK, Burgess M, Steer J, Bourke SC.

BMJ Open Respir Res. 2018 Oct 14;5(1):e000334. doi: 10.1136/bmjresp-2018-000334. eCollection 2018.

8.

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

Bonnefoy S, Watson CM, Kernohan KD, Lemos M, Hutchinson S, Poulter JA, Crinnion LA, Berry I, Simmonds J, Vasudevan P, O'Callaghan C, Hirst RA, Rutman A, Huang L, Hartley T, Grynspan D, Moya E, Li C, Carr IM, Bonthron DT, Leroux M; Care4Rare Canada Consortium, Boycott KM, Bastin P, Sheridan EG.

Am J Hum Genet. 2018 Nov 1;103(5):727-739. doi: 10.1016/j.ajhg.2018.10.003.

PMID:
30388400
9.

Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases.

Marshall DA, Benchimol EI, MacKenzie A, Duque DR, MacDonald KV, Hartley T, Howley H, Hamilton A, Gillespie M, Malam F, Boycott KM.

Genet Med. 2018 Sep 24. doi: 10.1038/s41436-018-0289-9. [Epub ahead of print]

PMID:
30245512
10.

ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.

Alirezaie N, Kernohan KD, Hartley T, Majewski J, Hocking TD.

Am J Hum Genet. 2018 Oct 4;103(4):474-483. doi: 10.1016/j.ajhg.2018.08.005. Epub 2018 Sep 13.

PMID:
30220433
11.

The Neurobiology of Mammalian Navigation.

Poulter S, Hartley T, Lever C.

Curr Biol. 2018 Sep 10;28(17):R1023-R1042. doi: 10.1016/j.cub.2018.05.050. Review.

12.

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.

Kernohan KD, Hartley T, Naumenko S, Armour CM, Graham GE, Nikkel SM, Lines M, Geraghty MT, Richer J, Mears W, Boycott KM, Dyment DA.

Am J Med Genet A. 2018 Jul;176(7):1688-1691. doi: 10.1002/ajmg.a.38838. No abstract available.

PMID:
30160830
13.

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34).

Bourque PR, Warman-Chardon J, Lelli DA, LaBerge L, Kirshen C, Bradshaw SH, Hartley T, Boycott KM.

Neurol Genet. 2018 Jul 26;4(4):e263. doi: 10.1212/NXG.0000000000000263. eCollection 2018 Aug. No abstract available.

14.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium, Boycott KM, Kernohan KD, Dyack S, Raymond FL.

Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28.

15.

Intestinal damage following short-duration exercise at the same relative intensity is similar in temperate and hot environments.

Sheahen BL, Fell JW, Zadow EK, Hartley TF, Kitic CM.

Appl Physiol Nutr Metab. 2018 Dec;43(12):1314-1320. doi: 10.1139/apnm-2018-0057. Epub 2018 Jun 6.

PMID:
29874478
16.

Home treatment of COPD exacerbation selected by DECAF score: a non-inferiority, randomised controlled trial and economic evaluation.

Echevarria C, Gray J, Hartley T, Steer J, Miller J, Simpson AJ, Gibson GJ, Bourke SC.

Thorax. 2018 Aug;73(8):713-722. doi: 10.1136/thoraxjnl-2017-211197. Epub 2018 Apr 21.

17.

A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.

Zambonin JL, Dyment DA, Xi Y, Lamont RE, Hartley T, Miller E, Kerr M; Care4Rare Canada Consortium, Boycott KM, Parboosingh JS, Venkateswaran S.

Neurogenetics. 2018 Jan;19(1):61-65. doi: 10.1007/s10048-017-0534-4. Epub 2017 Dec 15.

PMID:
29247375
18.

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

Kernohan KD, Hartley T, Alirezaie N; Care4Rare Canada Consortium, Robinson PN, Dyment DA, Boycott KM.

Hum Mutat. 2018 Feb;39(2):197-201. doi: 10.1002/humu.23374. Epub 2017 Dec 14.

PMID:
29193559
19.

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

Simons C, Dyment D, Bent SJ, Crawford J, D'Hooghe M, Kohlschütter A, Venkateswaran S, Helman G, Poll-The BT, Makowski CC, Ito Y, Kernohan K, Hartley T, Waisfisz Q, Taft RJ; Care4Rare Consortium, van der Knaap MS, Wolf NI.

Brain. 2017 Dec 1;140(12):3105-3111. doi: 10.1093/brain/awx314.

20.

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.

Bourque DK, Hartley T, Nikkel SM, Pohl D, Tétreault M, Kernohan KD; Care4Rare Canada Consortium, Dyment DA.

Eur J Med Genet. 2018 Feb;61(2):89-93. doi: 10.1016/j.ejmg.2017.10.011. Epub 2017 Oct 21. Review.

PMID:
29066376
21.

Addition of chromosomal microarray and next generation sequencing to FISH and classical cytogenetics enhances genomic profiling of myeloid malignancies.

Mukherjee S, Sathanoori M, Ma Z, Andreatta M, Lennon PA, Wheeler SR, Prescott JL, Coldren C, Casey T, Rietz H, Fasig K, Woodford R, Hartley T, Spence D, Donnelan W, Berdeja J, Flinn I, Kozyr N, Bouzyk M, Correll M, Ho H, Kravtsov V, Tunnel D, Chandra P.

Cancer Genet. 2017 Oct;216-217:128-141. doi: 10.1016/j.cancergen.2017.07.010. Epub 2017 Aug 14.

PMID:
29025587
22.

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.

Alcantara D, Elmslie F, Tetreault M, Bareke E, Hartley T; Care4Rare Consortium, Majewski J, Boycott K, Innes AM, Dyment DA, O'Driscoll M.

Hum Mol Genet. 2017 Oct 1;26(19):3713-3721. doi: 10.1093/hmg/ddx256.

PMID:
28934384
23.

Fragile X testing as a second-tier test.

Hartley T, Potter R, Badalato L, Smith AC, Jarinova O, Boycott KM.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.147. Epub 2017 Sep 14. No abstract available.

PMID:
28914265
24.

Cardiovascular Disease Burden and Socioeconomic Correlates: Findings From the Jackson Heart Study.

Min YI, Anugu P, Butler KR, Hartley TA, Mwasongwe S, Norwood AF, Sims M, Wang W, Winters KP, Correa A.

J Am Heart Assoc. 2017 Aug 4;6(8). pii: e004416. doi: 10.1161/JAHA.116.004416.

25.

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Hartley T, Wagner JD, Warman-Chardon J, Tétreault M, Brady L, Baker S, Tarnopolsky M, Bourque PR, Parboosingh JS, Smith C, McInnes B, Innes AM, Bernier F, Curry CJ, Yoon G, Horvath GA, Bareke E, Gillespie M; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Bulman DE, Dyment DA, Boycott KM.

Clin Genet. 2018 Feb;93(2):301-309. doi: 10.1111/cge.13101. Epub 2017 Dec 12.

PMID:
28708278
26.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H.

Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138.

PMID:
28633435
27.

A data driven approach to understanding the organization of high-level visual cortex.

Watson DM, Andrews TJ, Hartley T.

Sci Rep. 2017 Jun 15;7(1):3596. doi: 10.1038/s41598-017-03974-5.

28.

Patterns of response to scrambled scenes reveal the importance of visual properties in the organization of scene-selective cortex.

Watson DM, Hartley T, Andrews TJ.

Cortex. 2017 Jul;92:162-174. doi: 10.1016/j.cortex.2017.04.011. Epub 2017 Apr 21.

PMID:
28499144
29.

Association of shiftwork and immune cells among police officers from the Buffalo Cardio-Metabolic Occupational Police Stress study.

Wirth MD, Andrew ME, Burchfiel CM, Burch JB, Fekedulegn D, Hartley TA, Charles LE, Violanti JM.

Chronobiol Int. 2017;34(6):721-731. doi: 10.1080/07420528.2017.1316732. Epub 2017 May 10.

PMID:
28488901
30.

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.

Malam F, Hartley T, Gillespie MK, Armour CM, Bariciak E, Graham GE, Nikkel SM, Richer J, Sawyer SL, Boycott KM, Dyment DA.

Am J Med Genet A. 2017 May 9. doi: 10.1002/ajmg.a.38250. [Epub ahead of print]

PMID:
28488422
31.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

32.

Genome-wide association studies to identify rice salt-tolerance markers.

Patishtan J, Hartley TN, Fonseca de Carvalho R, Maathuis FJM.

Plant Cell Environ. 2018 May;41(5):970-982. doi: 10.1111/pce.12975. Epub 2017 Jul 14.

PMID:
28436093
33.

Associations Between Body Fat Percentage and Fitness among Police Officers: A Statewide Study.

Violanti JM, Ma CC, Fekedulegn D, Andrew ME, Gu JK, Hartley TA, Charles LE, Burchfiel CM.

Saf Health Work. 2017 Mar;8(1):36-41. doi: 10.1016/j.shaw.2016.07.004. Epub 2016 Aug 3.

34.

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE; Care4Rare Canada Consortium, Kinoshita T, Dyment DA, Boycott KM, Campeau PM.

Hum Mol Genet. 2017 May 1;26(9):1706-1715. doi: 10.1093/hmg/ddx077.

PMID:
28334793
35.

Police work stressors and cardiac vagal control.

Andrew ME, Violanti JM, Gu JK, Fekedulegn D, Li S, Hartley TA, Charles LE, Mnatsakanova A, Miller DB, Burchfiel CM.

Am J Hum Biol. 2017 Sep 10;29(5). doi: 10.1002/ajhb.22996. Epub 2017 Mar 14.

36.

Highly Rated and most Frequent Stressors among Police Officers: Gender Differences.

Violanti JM, Fekedulegn D, Hartley TA, Charles LE, Andrew ME, Ma CC, Burchfiel CM.

Am J Crim Justice. 2016 Dec;41(4):645-662. doi: 10.1007/s12103-016-9342-x.

37.

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, Xu H, McBride A, Bourque PR, Consortium CRC, Bennett SAL, Dyment DA, Boycott KM, Montgomery SB, Warman Chardon J.

Hum Mutat. 2017 Jun;38(6):611-614. doi: 10.1002/humu.23211. Epub 2017 Mar 28.

38.

Knowing what from where: Hippocampal connectivity with temporoparietal cortex at rest is linked to individual differences in semantic and topographic memory.

Sormaz M, Jefferies E, Bernhardt BC, Karapanagiotidis T, Mollo G, Bernasconi N, Bernasconi A, Hartley T, Smallwood J.

Neuroimage. 2017 May 15;152:400-410. doi: 10.1016/j.neuroimage.2017.02.071. Epub 2017 Feb 28.

39.

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

Bhola PT, Hartley T, Bareke E; Care4Rare Canada Consortium, Boycott KM, Nikkel SM, Dyment DA.

J Hum Genet. 2017 Jun;62(6):661-663. doi: 10.1038/jhg.2017.18. Epub 2017 Feb 23.

PMID:
28228640
40.

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.

Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N; Care4Rare Consortium, Saunders C, Boycott KM, Thiffault I.

Hum Mutat. 2017 May;38(5):511-516. doi: 10.1002/humu.23196. Epub 2017 Mar 6.

PMID:
28185376
41.

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, Dupuis L, Horvath GA, Mendoza-Londono R, Prasad C, Richer J, Yang XR, Armour CM, Bareke E, Fernandez BA, McMillan HJ, Lamont RE, Majewski J, Parboosingh JS, Prasad AN, Rupar CA, Schwartzentruber J, Smith AC, Tétreault M; FORGE Canada Consortium; Care4Rare Canada Consortium, Innes AM, Boycott KM.

Clin Genet. 2017 Sep;92(3):281-289. doi: 10.1111/cge.12987. Epub 2017 Mar 13.

PMID:
28170084
42.

Fatigue and on-duty injury among police officers: The BCOPS study.

Fekedulegn D, Burchfiel CM, Ma CC, Andrew ME, Hartley TA, Charles LE, Gu JK, Violanti JM.

J Safety Res. 2017 Feb;60:43-51. doi: 10.1016/j.jsr.2016.11.006. Epub 2016 Dec 8.

43.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW.

Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26.

44.

The impact of perceived intensity and frequency of police work occupational stressors on the cortisol awakening response (CAR): Findings from the BCOPS study.

Violanti JM, Fekedulegn D, Andrew ME, Hartley TA, Charles LE, Miller DB, Burchfiel CM.

Psychoneuroendocrinology. 2017 Jan;75:124-131. doi: 10.1016/j.psyneuen.2016.10.017. Epub 2016 Oct 21.

45.

Prevalence and trends of leisure-time physical activity by occupation and industry in U.S. workers: the National Health Interview Survey 2004-2014.

Gu JK, Charles LE, Ma CC, Andrew ME, Fekedulegn D, Hartley TA, Violanti JM, Burchfiel CM.

Ann Epidemiol. 2016 Oct;26(10):685-692. doi: 10.1016/j.annepidem.2016.08.004. Epub 2016 Aug 28.

46.

The 4 Mountains Test: A Short Test of Spatial Memory with High Sensitivity for the Diagnosis of Pre-dementia Alzheimer's Disease.

Chan D, Gallaher LM, Moodley K, Minati L, Burgess N, Hartley T.

J Vis Exp. 2016 Oct 13;(116). doi: 10.3791/54454.

47.

Temporal precision and the capacity of auditory-verbal short-term memory.

Gilbert RA, Hitch GJ, Hartley T.

Q J Exp Psychol (Hove). 2017 Dec;70(12):2403-2418. doi: 10.1080/17470218.2016.1239749. Epub 2016 Oct 19.

PMID:
27758161
48.

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.

Hamilton A, Tétreault M, Dyment DA, Zou R, Kernohan K, Geraghty MT; FORGE Canada Consortium; Care4Rare Canada Consortium, Hartley T, Boycott KM.

Mol Genet Genomic Med. 2016 May 10;4(5):504-12. doi: 10.1002/mgg3.223. eCollection 2016 Sep.

49.

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.

Nowaczyk MJ, Huang L, Tarnopolsky M, Schwartzentruber J, Majewski J, Bulman DE; FORGE Canada Consortium, Care4Rare Canada Consortium, Hartley T, Boycott KM.

Am J Med Genet A. 2017 Jan;173(1):126-134. doi: 10.1002/ajmg.a.37973. Epub 2016 Sep 15.

PMID:
27633801
50.

Prevalence of work-site injuries and relationship between obesity and injury among U.S. workers: NHIS 2004-2012.

Gu JK, Charles LE, Andrew ME, Ma CC, Hartley TA, Violanti JM, Burchfiel CM.

J Safety Res. 2016 Sep;58:21-30. doi: 10.1016/j.jsr.2016.06.001. Epub 2016 Jun 14.

Supplemental Content

Loading ...
Support Center