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Results: 1 to 20 of 50

1.

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.

Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA.

EMBO Rep. 2014 Jul;15(7):766-74. doi: 10.15252/embr.201438840. Epub 2014 Jun 13.

PMID:
24928908
[PubMed - in process]
Free Article
2.

High-resolution genomic analysis of human mitochondrial RNA sequence variation.

Hodgkinson A, Idaghdour Y, Gbeha E, Grenier JC, Hip-Ki E, Bruat V, Goulet JP, de Malliard T, Awadalla P.

Science. 2014 Apr 25;344(6182):413-5. doi: 10.1126/science.1251110.

PMID:
24763589
[PubMed - indexed for MEDLINE]
3.

Genomic architecture of sickle cell disease in West African children.

Quinlan J, Idaghdour Y, Goulet JP, Gbeha E, de Malliard T, Bruat V, Grenier JC, Gomez S, Sanni A, Rahimy MC, Awadalla P.

Front Genet. 2014 Feb 14;5:26. doi: 10.3389/fgene.2014.00026. eCollection 2014.

PMID:
24592274
[PubMed]
Free PMC Article
4.

Prevalence, awareness, and management of CKD and cardiovascular risk factors in publicly funded health care.

Verhave JC, Troyanov S, Mongeau F, Fradette L, Bouchard J, Awadalla P, Madore F.

Clin J Am Soc Nephrol. 2014 Apr;9(4):713-9. doi: 10.2215/CJN.06550613. Epub 2014 Jan 23.

PMID:
24458079
[PubMed - in process]
5.

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.

Casals F, Hodgkinson A, Hussin J, Idaghdour Y, Bruat V, de Maillard T, Grenier JC, Gbeha E, Hamdan FF, Girard S, Spinella JF, Larivière M, Saillour V, Healy J, Fernández I, Sinnett D, Michaud JL, Rouleau GA, Haddad E, Le Deist F, Awadalla P.

PLoS Genet. 2013;9(9):e1003815. doi: 10.1371/journal.pgen.1003815. Epub 2013 Sep 26. Erratum in: PLoS Genet. 2014 Feb;10(2):e1004260. Grenier, Jean-Cristophe [corrected to Grenier, Jean-Christophe].

PMID:
24086152
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Selective constraint, background selection, and mutation accumulation variability within and between human populations.

Hodgkinson A, Casals F, Idaghdour Y, Grenier JC, Hernandez RD, Awadalla P.

BMC Genomics. 2013 Jul 23;14:495. doi: 10.1186/1471-2164-14-495.

PMID:
23875710
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Hypervariable antigen genes in malaria have ancient roots.

Zilversmit MM, Chase EK, Chen DS, Awadalla P, Day KP, McVean G.

BMC Evol Biol. 2013 May 31;13:110. doi: 10.1186/1471-2148-13-110.

PMID:
23725540
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.

Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B.

J Med Genet. 2013 May;50(5):324-9. doi: 10.1136/jmedgenet-2012-101483. Epub 2013 Feb 19.

PMID:
23423984
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Rare allelic forms of PRDM9 associated with childhood leukemogenesis.

Hussin J, Sinnett D, Casals F, Idaghdour Y, Bruat V, Saillour V, Healy J, Grenier JC, de Malliard T, Busche S, Spinella JF, Larivière M, Gibson G, Andersson A, Holmfeldt L, Ma J, Wei L, Zhang J, Andelfinger G, Downing JR, Mullighan CG, Awadalla P.

Genome Res. 2013 Mar;23(3):419-30. doi: 10.1101/gr.144188.112. Epub 2012 Dec 5.

PMID:
23222848
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Cohort profile of the CARTaGENE study: Quebec's population-based biobank for public health and personalized genomics.

Awadalla P, Boileau C, Payette Y, Idaghdour Y, Goulet JP, Knoppers B, Hamet P, Laberge C; CARTaGENE Project.

Int J Epidemiol. 2013 Oct;42(5):1285-99. doi: 10.1093/ije/dys160. Epub 2012 Oct 15.

PMID:
23071140
[PubMed - in process]
11.

Rare copy number variants contribute to congenital left-sided heart disease.

Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, Overduin B, Klaassen S, Hoodless P, Awadalla P, Hussin J, Idaghdour Y, Nemer M, Stewart AF, Boerkoel C, Scherer SW, Richter A, Dubé MP, Andelfinger G.

PLoS Genet. 2012 Sep;8(9):e1002903. doi: 10.1371/journal.pgen.1002903. Epub 2012 Sep 6. Erratum in: PLoS Genet. 2013 Mar;9(3). doi: 10.1371/annotation/8bc63544-9ed4-42ca-a830-e8058ab13bab. Awadalla, Philip [added]; Hussin, Julie [added]; Idaghdour, Youssef [added].

PMID:
22969434
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Evidence for additive and interaction effects of host genotype and infection in malaria.

Idaghdour Y, Quinlan J, Goulet JP, Berghout J, Gbeha E, Bruat V, de Malliard T, Grenier JC, Gomez S, Gros P, Rahimy MC, Sanni A, Awadalla P.

Proc Natl Acad Sci U S A. 2012 Oct 16;109(42):16786-93. doi: 10.1073/pnas.1204945109. Epub 2012 Sep 4.

PMID:
22949651
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Harnessing genomics to identify environmental determinants of heritable disease.

Yauk CL, Lucas Argueso J, Auerbach SS, Awadalla P, Davis SR, Demarini DM, Douglas GR, Dubrova YE, Elespuru RK, Glover TW, Hales BF, Hurles ME, Klein CB, Lupski JR, Manchester DK, Marchetti F, Montpetit A, Mulvihill JJ, Robaire B, Robbins WA, Rouleau GA, Shaughnessy DT, Somers CM, Taylor JG 6th, Trasler J, Waters MD, Wilson TE, Witt KL, Bishop JB.

Mutat Res. 2013 Jan-Mar;752(1):6-9. doi: 10.1016/j.mrrev.2012.08.002. Epub 2012 Aug 28.

PMID:
22935230
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A family-based probabilistic method for capturing de novo mutations from high-throughput short-read sequencing data.

Cartwright RA, Hussin J, Keebler JE, Stone EA, Awadalla P.

Stat Appl Genet Mol Biol. 2012 Jan 6;11(2). pii: /j/sagmb.2012.11.issue-2/1544-6115.1713/1544-6115.1713.xml. doi: 10.2202/1544-6115.1713.

PMID:
22499693
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Next-generation sequencing approaches for genetic mapping of complex diseases.

Casals F, Idaghdour Y, Hussin J, Awadalla P.

J Neuroimmunol. 2012 Jul 15;248(1-2):10-22. doi: 10.1016/j.jneuroim.2011.12.017. Epub 2012 Jan 27. Review.

PMID:
22285396
[PubMed - indexed for MEDLINE]
16.

Exploiting gene expression variation to capture gene-environment interactions for disease.

Idaghdour Y, Awadalla P.

Front Genet. 2013 May 31;3:228. doi: 10.3389/fgene.2012.00228. eCollection 2012.

PMID:
23755064
[PubMed]
Free PMC Article
17.

Age-dependent recombination rates in human pedigrees.

Hussin J, Roy-Gagnon MH, Gendron R, Andelfinger G, Awadalla P.

PLoS Genet. 2011 Sep;7(9):e1002251. doi: 10.1371/journal.pgen.1002251. Epub 2011 Sep 1.

PMID:
21912527
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Genetic adaptation of the antibacterial human innate immunity network.

Casals F, Sikora M, Laayouni H, Montanucci L, Muntasell A, Lazarus R, Calafell F, Awadalla P, Netea MG, Bertranpetit J.

BMC Evol Biol. 2011 Jul 11;11:202. doi: 10.1186/1471-2148-11-202.

PMID:
21745391
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Variation in genome-wide mutation rates within and between human families.

Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P; 1000 Genomes Project.

Nat Genet. 2011 Jun 12;43(7):712-4. doi: 10.1038/ng.862.

PMID:
21666693
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Similarity in recombination rate estimates highly correlates with genetic differentiation in humans.

Laayouni H, Montanucci L, Sikora M, Melé M, Dall'Olio GM, Lorente-Galdos B, McGee KM, Graffelman J, Awadalla P, Bosch E, Comas D, Navarro A, Calafell F, Casals F, Bertranpetit J.

PLoS One. 2011 Mar 28;6(3):e17913. doi: 10.1371/journal.pone.0017913.

PMID:
21464928
[PubMed - indexed for MEDLINE]
Free PMC Article

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