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Items: 1 to 20 of 63

1.

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.

2.

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.

3.

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.

4.

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.

5.

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.

PMID:
26955005
6.

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.

7.

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.

PMID:
26903269
8.

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.

PMID:
26683887
9.

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.

PMID:
26604299
10.

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.e17-21. doi: 10.1016/j.neurobiolaging.2015.09.013.

PMID:
26493020
11.

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.

PMID:
26148450
12.

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
13.

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.

PMID:
25685891
14.

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.

15.

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.

16.

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.

17.

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.

18.

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. Erratum in: PLoS Genet. 2014 Feb;10(2):e1004260. Grenier, Jean-Cristophe [corrected to Grenier, Jean-Christophe].

19.

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.

20.

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.

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