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Items: 1 to 50 of 252

1.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.

Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB.

Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3.

PMID:
31160820
2.

A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.

Pál E, Zima J, Hadzsiev K, Ito YA, Hartley T; Care4Rare Canada Consortium, Boycott KM, Melegh B.

Eur J Med Genet. 2019 Jul;62(7):103662. doi: 10.1016/j.ejmg.2019.05.001. Epub 2019 May 6.

PMID:
31071488
3.

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

Zima J, Eaton A, Pál E, Till Á, Ito YA, Warman-Chardon J, Hartley T, Cagnone G, Melegh BI; Care4Rare Canada, Boycott KM, Melegh B, Hadzsiev K.

Eur J Med Genet. 2019 Apr 27. pii: S1769-7212(18)30739-0. doi: 10.1016/j.ejmg.2019.04.012. [Epub ahead of print]

PMID:
31034989
4.

Associations Between Police Work Stressors and Posttraumatic Stress Disorder Symptoms: Examining the Moderating Effects of Coping.

Violanti JM, Ma CC, Mnatsakanova A, Fekedulegn D, Hartley TA, Gu JK, Andrew ME.

J Police Crim Psychol. 2018 Sep;33(3):271-282. doi: 10.1007/s11896-018-9276-y. Epub 2018 Jun 2.

5.

Influence of Work Characteristics on the Association Between Police Stress and Sleep Quality.

Ma CC, Hartley TA, Sarkisian K, Fekedulegn D, Mnatsakanova A, Owens S, Gu JK, Tinney-Zara C, Violanti JM, Andrew ME.

Saf Health Work. 2019 Mar;10(1):30-38. doi: 10.1016/j.shaw.2018.07.004. Epub 2018 Jul 29.

6.

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Riess O, Belmont J, Dunwoodie SL, Jojic N, Lassmann T, Mackay D, Temple IK, Visel A, Baynam G.

Cell. 2019 Mar 21;177(1):32-37. doi: 10.1016/j.cell.2019.02.040.

PMID:
30901545
7.

A role for the OsHKT 2;1 sodium transporter in potassium use efficiency in rice.

Hartley TN, Thomas AS, Maathuis FJM.

J Exp Bot. 2019 Mar 11. pii: erz113. doi: 10.1093/jxb/erz113. [Epub ahead of print]

PMID:
30854552
8.

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.

McNiven V, Ito YA, Hartley T, Kernohan K, Miller E; Care4Rare Canada, Armour CM.

Am J Med Genet A. 2019 May;179(5):837-841. doi: 10.1002/ajmg.a.61095. Epub 2019 Feb 17.

PMID:
30773799
9.

The continuing evolution of ownership.

Hartley T.

PLoS One. 2019 Feb 12;14(2):e0211871. doi: 10.1371/journal.pone.0211871. eCollection 2019.

10.

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 Jul;148(7):1251-1268. doi: 10.1037/xge0000545. Epub 2019 Jan 17.

PMID:
30652892
11.

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.

12.

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
13.

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.

14.

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
15.

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. 2019 May;22(5):516-520. doi: 10.1016/j.jsams.2018.11.008. Epub 2018 Nov 20.

PMID:
30482448
16.

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.

17.

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.

18.

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. 2019 May;21(5):1049-1057. doi: 10.1038/s41436-018-0289-9. Epub 2018 Sep 24.

PMID:
30245512
19.

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.

20.

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.

21.

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
22.

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.

23.

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.

24.

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
25.

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.

26.

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
27.

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
28.

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.

29.

Police stressors and health: a state-of-the-art review.

Violanti JM, Charles LE, McCanlies E, Hartley TA, Baughman P, Andrew ME, Fekedulegn D, Ma CC, Mnatsakanova A, Burchfiel CM.

Policing. 2017 Nov;40(4):642-656. doi: 10.1108/PIJPSM-06-2016-0097.

30.

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
31.

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
32.

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
33.

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
34.

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.

35.

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
36.

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
37.

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.

38.

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
39.

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
40.

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 Jul;173(7):1839-1847. doi: 10.1002/ajmg.a.38250. Epub 2017 May 9.

PMID:
28488422
41.

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.

42.

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
43.

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.

44.

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
45.

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.

46.

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.

47.

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.

48.

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.

49.

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
50.

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

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