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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, Caceres K, 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.


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. 2015 Sep 28. pii: S0197-4580(15)00470-4. doi: 10.1016/j.neurobiolaging.2015.09.013. [Epub ahead of print]


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. 2015 Apr 13. pii: S0828-282X(15)00280-9. doi: 10.1016/j.cjca.2015.04.004. [Epub ahead of print]


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.


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.


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.


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.


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.


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.


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].


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.


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.


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.


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.


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.


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].


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.


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.


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.


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.

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