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Items: 23

1.

Copy number variation in fetal alcohol spectrum disorder.

Zarrei M, Hicks GG, Reynolds JN, Thiruvahindrapuram B, Engchuan W, Pind M, Lamoureux S, Wei J, Wang Z, Marshall CR, Wintle RF, Chudley AE, Scherer SW.

Biochem Cell Biol. 2018 Apr;96(2):161-166. doi: 10.1139/bcb-2017-0241. Epub 2018 Mar 13.

PMID:
29533680
2.

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW.

CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.

3.

Cerebral palsy and genomics: an international consortium.

MacLennan AH, Kruer MC, Baynam G, Moreno-De-Luca A, Wilson YA, Zhu C, Wintle RF, Gecz J; members of the International Cerebral Palsy Genomics Consortium.

Dev Med Child Neurol. 2018 Feb;60(2):209-210. doi: 10.1111/dmcn.13643. No abstract available.

PMID:
29336076
4.

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

Zarrei M, Fehlings DL, Mawjee K, Switzer L, Thiruvahindrapuram B, Walker S, Merico D, Casallo G, Uddin M, MacDonald JR, Gazzellone MJ, Higginbotham EJ, Campbell C, deVeber G, Frid P, Gorter JW, Hunt C, Kawamura A, Kim M, McCormick A, Mesterman R, Samdup D, Marshall CR, Stavropoulos DJ, Wintle RF, Scherer SW.

Genet Med. 2018 Feb;20(2):172-180. doi: 10.1038/gim.2017.83. Epub 2017 Aug 3.

5.

De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis).

Lok S, Paton TA, Wang Z, Kaur G, Walker S, Yuen RK, Sung WW, Whitney J, Buchanan JA, Trost B, Singh N, Apresto B, Chen N, Coole M, Dawson TJ, Ho K, Hu Z, Pullenayegum S, Samler K, Shipstone A, Tsoi F, Wang T, Pereira SL, Rostami P, Ryan CA, Tong AH, Ng K, Sundaravadanam Y, Simpson JT, Lim BK, Engstrom MD, Dutton CJ, Kerr KC, Franke M, Rapley W, Wintle RF, Scherer SW.

G3 (Bethesda). 2017 Feb 9;7(2):755-773. doi: 10.1534/g3.116.038208.

6.

Clinically relevant copy number variations detected in cerebral palsy.

Oskoui M, Gazzellone MJ, Thiruvahindrapuram B, Zarrei M, Andersen J, Wei J, Wang Z, Wintle RF, Marshall CR, Cohn RD, Weksberg R, Stavropoulos DJ, Fehlings D, Shevell MI, Scherer SW.

Nat Commun. 2015 Aug 3;6:7949. doi: 10.1038/ncomms8949.

7.

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.

Marshall CR, Farrell SA, Cushing D, Paton T, Stockley TL, Stavropoulos DJ, Ray PN, Szego M, Lau L, Pereira SL, Cohn RD, Wintle RF, Abuzenadah AM, Abu-Elmagd M, Scherer SW.

BMC Genomics. 2015;16 Suppl 1:S12. doi: 10.1186/1471-2164-16-S1-S12. Epub 2015 Jan 15.

8.

A high-resolution copy-number variation resource for clinical and population genetics.

Uddin M, Thiruvahindrapuram B, Walker S, Wang Z, Hu P, Lamoureux S, Wei J, MacDonald JR, Pellecchia G, Lu C, Lionel AC, Gazzellone MJ, McLaughlin JR, Brown C, Andrulis IL, Knight JA, Herbrick JA, Wintle RF, Ray P, Stavropoulos DJ, Marshall CR, Scherer SW.

Genet Med. 2015 Sep;17(9):747-52. doi: 10.1038/gim.2014.178. Epub 2014 Dec 11.

9.

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW; FORGE Canada Consortium, Friedman JM, Michaud JL, Boycott KM.

Am J Hum Genet. 2014 Jun 5;94(6):809-17. doi: 10.1016/j.ajhg.2014.05.003.

10.

A genotype resource for postmortem brain samples from the Autism Tissue Program.

Wintle RF, Lionel AC, Hu P, Ginsberg SD, Pinto D, Thiruvahindrapduram B, Wei J, Marshall CR, Pickett J, Cook EH, Scherer SW.

Autism Res. 2011 Apr;4(2):89-97. doi: 10.1002/aur.173. Epub 2011 Jan 19. Erratum in: Autism Res. 2011 Aug;4(4):314.

11.

Characterization of the differentially methylated region of the Impact gene that exhibits Glires-specific imprinting.

Okamura K, Wintle RF, Scherer SW.

Genome Biol. 2008;9(11):R160. doi: 10.1186/gb-2008-9-11-r160. Epub 2008 Nov 13.

12.

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.

Goobie S, Knijnenburg J, Fitzpatrick D, Sharkey FH, Lionel AC, Marshall CR, Azam T, Shago M, Chong K, Mendoza-Londono R, den Hollander NS, Ruivenkamp C, Maher E, Tanke HJ, Szuhai K, Wintle RF, Scherer SW.

Cytogenet Genome Res. 2008;123(1-4):65-78. doi: 10.1159/000184693. Epub 2009 Mar 11.

13.

Structural variants: changing the landscape of chromosomes and design of disease studies.

Feuk L, Marshall CR, Wintle RF, Scherer SW.

Hum Mol Genet. 2006 Apr 15;15 Spec No 1:R57-66. Review.

PMID:
16651370
14.

DLG5 variants contribute to Crohn disease risk in a Canadian population.

Newman WG, Gu X, Wintle RF, Liu X, van Oene M, Amos CI, Siminovitch KA.

Hum Mutat. 2006 Apr;27(4):353-8.

PMID:
16450402
15.

Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations.

van Oene M, Wintle RF, Liu X, Yazdanpanah M, Gu X, Newman B, Kwan A, Johnson B, Owen J, Greer W, Mosher D, Maksymowych W, Keystone E, Rubin LA, Amos CI, Siminovitch KA.

Arthritis Rheum. 2005 Jul;52(7):1993-8.

16.

SLC22A4 polymorphisms implicated in rheumatoid arthritis and Crohn's disease are not associated with rheumatoid arthritis in a Canadian Caucasian population.

Newman B, Wintle RF, van Oene M, Yazdanpanah M, Owen J, Johnson B, Gu X, Amos CI, Keystone E, Rubin LA, Siminovitch KA.

Arthritis Rheum. 2005 Feb;52(2):425-9.

17.

Functional variants of OCTN cation transporter genes are associated with Crohn disease.

Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA.

Nat Genet. 2004 May;36(5):471-5. Epub 2004 Apr 11.

PMID:
15107849
18.

Dopamine modulates the plasticity of mechanosensory responses in Caenorhabditis elegans.

Sanyal S, Wintle RF, Kindt KS, Nuttley WM, Arvan R, Fitzmaurice P, Bigras E, Merz DC, Hébert TE, van der Kooy D, Schafer WR, Culotti JG, Van Tol HH.

EMBO J. 2004 Jan 28;23(2):473-82. Epub 2004 Jan 22.

19.

Dopamine signaling in Caenorhabditis elegans-potential for parkinsonism research.

Wintle RF, Van Tol HH.

Parkinsonism Relat Disord. 2001 Jul;7(3):177-183.

PMID:
11331184
20.

Genetic polymorphism and recombination in the subtelomeric region of chromosome 14q.

Wintle RF, Nygaard TG, Herbrick JA, Kvaløy K, Cox DW.

Genomics. 1997 Mar 15;40(3):409-14.

PMID:
9073508
21.

Molecular analysis redefines three human chromosome 14 deletions.

Wintle RF, Costa T, Haslam RH, Teshima IE, Cox DW.

Hum Genet. 1995 May;95(5):495-500.

PMID:
7759068
22.
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