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Items: 1 to 50 of 70

1.

Prediction of acute myeloid leukaemia risk in healthy individuals.

Abelson S, Collord G, Ng SWK, Weissbrod O, Mendelson Cohen N, Niemeyer E, Barda N, Zuzarte PC, Heisler L, Sundaravadanam Y, Luben R, Hayat S, Wang TT, Zhao Z, Cirlan I, Pugh TJ, Soave D, Ng K, Latimer C, Hardy C, Raine K, Jones D, Hoult D, Britten A, McPherson JD, Johansson M, Mbabaali F, Eagles J, Miller JK, Pasternack D, Timms L, Krzyzanowski P, Awadalla P, Costa R, Segal E, Bratman SV, Beer P, Behjati S, Martincorena I, Wang JCY, Bowles KM, Quirós JR, Karakatsani A, La Vecchia C, Trichopoulou A, Salamanca-Fernández E, Huerta JM, Barricarte A, Travis RC, Tumino R, Masala G, Boeing H, Panico S, Kaaks R, Krämer A, Sieri S, Riboli E, Vineis P, Foll M, McKay J, Polidoro S, Sala N, Khaw KT, Vermeulen R, Campbell PJ, Papaemmanuil E, Minden MD, Tanay A, Balicer RD, Wareham NJ, Gerstung M, Dick JE, Brennan P, Vassiliou GS, Shlush LI.

Nature. 2018 Jul;559(7714):400-404. doi: 10.1038/s41586-018-0317-6. Epub 2018 Jul 9.

PMID:
29988082
2.

The Canadian Partnership for Tomorrow Project: a pan-Canadian platform for research on chronic disease prevention.

Dummer TJB, Awadalla P, Boileau C, Craig C, Fortier I, Goel V, Hicks JMT, Jacquemont S, Knoppers BM, Le N, McDonald T, McLaughlin J, Mes-Masson AM, Nuyt AM, Palmer LJ, Parker L, Purdue M, Robson PJ, Spinelli JJ, Thompson D, Vena J, Zawati M; with the CPTP Regional Cohort Consortium.

CMAJ. 2018 Jun 11;190(23):E710-E717. doi: 10.1503/cmaj.170292.

3.

Gene-by-environment interactions in urban populations modulate risk phenotypes.

Favé MJ, Lamaze FC, Soave D, Hodgkinson A, Gauvin H, Bruat V, Grenier JC, Gbeha E, Skead K, Smargiassi A, Johnson M, Idaghdour Y, Awadalla P.

Nat Commun. 2018 Mar 6;9(1):827. doi: 10.1038/s41467-018-03202-2.

4.

Relaxed Selection During a Recent Human Expansion.

Peischl S, Dupanloup I, Foucal A, Jomphe M, Bruat V, Grenier JC, Gouy A, Gilbert KJ, Gbeha E, Bosshard L, Hip-Ki E, Agbessi M, Hodgkinson A, Vézina H, Awadalla P, Excoffier L.

Genetics. 2018 Feb;208(2):763-777. doi: 10.1534/genetics.117.300551. Epub 2017 Nov 29.

PMID:
29187508
5.

The impact of recombination on human mutation load and disease.

Alves I, Houle AA, Hussin JG, Awadalla P.

Philos Trans R Soc Lond B Biol Sci. 2017 Dec 19;372(1736). pii: 20160465. doi: 10.1098/rstb.2016.0465. Review.

PMID:
29109227
6.

Allele-specific expression reveals interactions between genetic variation and environment.

Knowles DA, Davis JR, Edgington H, Raj A, Favé MJ, Zhu X, Potash JB, Weissman MM, Shi J, Levinson DF, Awadalla P, Mostafavi S, Montgomery SB, Battle A.

Nat Methods. 2017 Jul;14(7):699-702. doi: 10.1038/nmeth.4298. Epub 2017 May 22.

7.

Industrial air emissions, and proximity to major industrial emitters, are associated with anti-citrullinated protein antibodies.

Bernatsky S, Smargiassi A, Joseph L, Awadalla P, Colmegna I, Hudson M, Fritzler MJ.

Environ Res. 2017 Aug;157:60-63. doi: 10.1016/j.envres.2017.04.035. Epub 2017 May 17.

PMID:
28525857
8.

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

Preuss C, Capredon M, Wünnemann F, Chetaille P, Prince A, Godard B, Leclerc S, Sobreira N, Ling H, Awadalla P, Thibeault M, Khairy P; MIBAVA Leducq consortium, Samuels ME, Andelfinger G.

PLoS Genet. 2016 Oct 19;12(10):e1006335. doi: 10.1371/journal.pgen.1006335. eCollection 2016 Oct.

9.

A haplotype-based normalization technique for the analysis and detection of allele specific expression.

Hodgkinson A, Grenier JC, Gbeha E, Awadalla P.

BMC Bioinformatics. 2016 Sep 13;17(1):364. doi: 10.1186/s12859-016-1238-8.

10.

Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) - a Pan Canadian cohort study.

Anand SS, Tu JV, Awadalla P, Black S, Boileau C, Busseuil D, Desai D, Després JP, de Souza RJ, Dummer T, Jacquemont S, Knoppers B, Larose E, Lear SA, Marcotte F, Moody AR, Parker L, Poirier P, Robson PJ, Smith EE, Spinelli JJ, Tardif JC, Teo KK, Tusevljak N, Friedrich MG; CAHHM Study Investigators.

BMC Public Health. 2016 Jul 27;16:650. doi: 10.1186/s12889-016-3310-8.

11.

Impact of the X Chromosome and sex on regulatory variation.

Kukurba KR, Parsana P, Balliu B, Smith KS, Zappala Z, Knowles DA, Favé MJ, Davis JR, Li X, Zhu X, Potash JB, Weissman MM, Shi J, Kundaje A, Levinson DF, Awadalla P, Mostafavi S, Battle A, Montgomery SB.

Genome Res. 2016 Jun;26(6):768-77. doi: 10.1101/gr.197897.115. Epub 2016 Apr 21.

12.

Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia.

Merner ND, Mercado A, Khanna AR, Hodgkinson A, Bruat V, Awadalla P, Gamba G, Rouleau GA, Kahle KT.

J Psychiatr Res. 2016 Jun;77:22-6. doi: 10.1016/j.jpsychires.2016.02.016. Epub 2016 Feb 27.

PMID:
26955005
13.

Comparative Analysis of Iron Homeostasis in Sub-Saharan African Children with Sickle Cell Disease and Their Unaffected Siblings.

Gomez S, Diawara A, Gbeha E, Awadalla P, Sanni A, Idaghdour Y, Rahimy MC.

Front Pediatr. 2016 Feb 23;4:8. doi: 10.3389/fped.2016.00008. eCollection 2016.

14.

Depression and risk of type 2 diabetes: the potential role of metabolic factors.

Schmitz N, Deschênes SS, Burns RJ, Smith KJ, Lesage A, Strychar I, Rabasa-Lhoret R, Freitas C, Graham E, Awadalla P, Wang JL.

Mol Psychiatry. 2016 Dec;21(12):1726-1732. doi: 10.1038/mp.2016.7. Epub 2016 Feb 23.

PMID:
26903269
15.

Clinical, Genetic, and Urinary Factors Associated with Uromodulin Excretion.

Troyanov S, Delmas-Frenette C, Bollée G, Youhanna S, Bruat V, Awadalla P, Devuyst O, Madore F.

Clin J Am Soc Nephrol. 2016 Jan 7;11(1):62-9. doi: 10.2215/CJN.04770415. Epub 2015 Dec 18.

16.

ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia.

Bourdeau I, Oble S, Magne F, Lévesque I, Cáceres-Gorriti KY, Nolet S, Awadalla P, Tremblay J, Hamet P, Fragoso MC, Lacroix A.

Eur J Endocrinol. 2016 Jan;174(1):85-96. doi: 10.1530/EJE-15-0642.

17.

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.

Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orrù S, Brunet D, Bouchard JP, Awadalla P, Dupré N, Dion PA, Rouleau GA.

Neurobiol Aging. 2016 Jan;37:209.e17-209.e21. doi: 10.1016/j.neurobiolaging.2015.09.013. Epub 2015 Sep 28.

PMID:
26493020
18.

Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.

Wünnemann F, Kokta V, Leclerc S, Thibeault M, McCuaig C, Hatami A, Stheneur C, Grenier JC, Awadalla P, Mitchell GA, Andelfinger G, Preuss C.

Can J Cardiol. 2016 Jan;32(1):135.e1-7. doi: 10.1016/j.cjca.2015.04.004. Epub 2015 Apr 13.

PMID:
26148450
19.

Association of age-dependent height and bone mineral density decline with increased arterial stiffness and rate of fractures in hypertensive individuals.

El-Bikai R, Tahir MR, Tremblay J, Joffres M, Šeda O, Šedová L, Awadalla P, Laberge C, Knoppers BM, Dumas P, Gaudet D, Ste-Marie LG, Hamet P.

J Hypertens. 2015 Apr;33(4):727-35; discussion 735. doi: 10.1097/HJH.0000000000000475.

PMID:
25915877
20.

Recombination affects accumulation of damaging and disease-associated mutations in human populations.

Hussin JG, Hodgkinson A, Idaghdour Y, Grenier JC, Goulet JP, Gbeha E, Hip-Ki E, Awadalla P.

Nat Genet. 2015 Apr;47(4):400-4. doi: 10.1038/ng.3216. Epub 2015 Feb 16.

PMID:
25685891
21.

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.

22.

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.

23.

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.

24.

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.

25.

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].

26.

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.

27.

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.

28.

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.

29.

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.

30.

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
31.

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].

32.

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.

33.

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.

34.

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.

35.

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
36.

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.

37.

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.

38.

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.

39.

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.

40.

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.

41.

High recombination rates and hotspots in a Plasmodium falciparum genetic cross.

Jiang H, Li N, Gopalan V, Zilversmit MM, Varma S, Nagarajan V, Li J, Mu J, Hayton K, Henschen B, Yi M, Stephens R, McVean G, Awadalla P, Wellems TE, Su XZ.

Genome Biol. 2011;12(4):R33. doi: 10.1186/gb-2011-12-4-r33. Epub 2011 Apr 4.

42.

A population genetic approach to mapping neurological disorder genes using deep resequencing.

Myers RA, Casals F, Gauthier J, Hamdan FF, Keebler J, Boyko AR, Bustamante CD, Piton AM, Spiegelman D, Henrion E, Zilversmit M, Hussin J, Quinlan J, Yang Y, Lafrenière RG, Griffing AR, Stone EA, Rouleau GA, Awadalla P.

PLoS Genet. 2011 Feb;7(2):e1001318. doi: 10.1371/journal.pgen.1001318. Epub 2011 Feb 24.

43.

Plasmodium falciparum genetic diversity maintained and amplified over 5 years of a low transmission endemic in the Peruvian Amazon.

Branch OH, Sutton PL, Barnes C, Castro JC, Hussin J, Awadalla P, Hijar G.

Mol Biol Evol. 2011 Jul;28(7):1973-86. doi: 10.1093/molbev/msq311. Epub 2010 Nov 25.

44.

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.

Awadalla P, Gauthier J, Myers RA, Casals F, Hamdan FF, Griffing AR, Côté M, Henrion E, Spiegelman D, Tarabeux J, Piton A, Yang Y, Boyko A, Bustamante C, Xiong L, Rapoport JL, Addington AM, DeLisi JL, Krebs MO, Joober R, Millet B, Fombonne E, Mottron L, Zilversmit M, Keebler J, Daoud H, Marineau C, Roy-Gagnon MH, Dubé MP, Eyre-Walker A, Drapeau P, Stone EA, Lafrenière RG, Rouleau GA.

Am J Hum Genet. 2010 Sep 10;87(3):316-24. doi: 10.1016/j.ajhg.2010.07.019.

45.

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME.

Am J Hum Genet. 2010 Jul 9;87(1):40-51. doi: 10.1016/j.ajhg.2010.06.003.

46.

Low-complexity regions in Plasmodium falciparum: missing links in the evolution of an extreme genome.

Zilversmit MM, Volkman SK, DePristo MA, Wirth DF, Awadalla P, Hartl DL.

Mol Biol Evol. 2010 Sep;27(9):2198-209. doi: 10.1093/molbev/msq108. Epub 2010 Apr 28.

47.

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

Gauthier J, Champagne N, Lafrenière RG, Xiong L, Spiegelman D, Brustein E, Lapointe M, Peng H, Côté M, Noreau A, Hamdan FF, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Joober R, Fathalli F, Mouaffak F, Haghighi AP, Néri C, Dubé MP, Samuels ME, Marineau C, Stone EA, Awadalla P, Barker PA, Carbonetto S, Drapeau P, Rouleau GA; S2D Team.

Proc Natl Acad Sci U S A. 2010 Apr 27;107(17):7863-8. doi: 10.1073/pnas.0906232107. Epub 2010 Apr 12.

48.

Plasmodium falciparum genome-wide scans for positive selection, recombination hot spots and resistance to antimalarial drugs.

Mu J, Myers RA, Jiang H, Liu S, Ricklefs S, Waisberg M, Chotivanich K, Wilairatana P, Krudsood S, White NJ, Udomsangpetch R, Cui L, Ho M, Ou F, Li H, Song J, Li G, Wang X, Seila S, Sokunthea S, Socheat D, Sturdevant DE, Porcella SF, Fairhurst RM, Wellems TE, Awadalla P, Su XZ.

Nat Genet. 2010 Mar;42(3):268-71. doi: 10.1038/ng.528. Epub 2010 Jan 31.

49.

Selection shapes malaria genomes and drives divergence between pathogens infecting hominids versus rodents.

Prugnolle F, McGee K, Keebler J, Awadalla P.

BMC Evol Biol. 2008 Jul 30;8:223. doi: 10.1186/1471-2148-8-223.

50.

Questioning evidence for recombination in human mitochondrial DNA.

Kivisild T, Villems R, Jorde LB, Bamshad M, Kumar S, Hedrick P, Dowling T, Stoneking M, Parsons TJ, Irwin JA, Awadalla P, Eyre-Walker A, Smith JM.

Science. 2000 Jun 16;288(5473):1931a. No abstract available.

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