Leal SM - Search Results

1

Replication strategies for rare variant complex trait association studies via next-generation sequencing.

Liu DJ, Leal SM. Liu DJ, et al. Among authors: leal sm. Am J Hum Genet. 2010 Dec 10;87(6):790-801. doi: 10.1016/j.ajhg.2010.10.025. Am J Hum Genet. 2010. PMID: 21129725 Free PMC article.

2

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

Santos RL, Hassan MJ, Sikandar S, Lee K, Ali G, Martin PE Jr, Wambangco MA, Ahmad W, Leal SM. Santos RL, et al. Among authors: leal sm. Hum Genet. 2006 Aug;120(1):85-92. doi: 10.1007/s00439-006-0188-z. Epub 2006 May 16. Hum Genet. 2006. PMID: 16703383 Free PMC article.

3

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.

Chishti MS, Bhatti A, Tamim S, Lee K, McDonald ML, Leal SM, Ahmad W. Chishti MS, et al. Among authors: leal sm. J Hum Genet. 2008;53(2):101-105. doi: 10.1007/s10038-007-0209-3. Epub 2007 Dec 15. J Hum Genet. 2008. PMID: 18084694 Free PMC article.

4

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data.

Li B, Leal SM. Li B, et al. Among authors: leal sm. Am J Hum Genet. 2008 Sep;83(3):311-21. doi: 10.1016/j.ajhg.2008.06.024. Epub 2008 Aug 7. Am J Hum Genet. 2008. PMID: 18691683 Free PMC article.

5

Mitochondrial DNA variant interactions modify breast cancer risk.

Covarrubias D, Bai RK, Wong LC, Leal SM. Covarrubias D, et al. Among authors: leal sm. J Hum Genet. 2008;53(10):924-928. doi: 10.1007/s10038-008-0331-x. Epub 2008 Aug 19. J Hum Genet. 2008. PMID: 18709563 Free PMC article.

6

Deviations from hardy-weinberg equilibrium in parental and unaffected sibling genotype data.

Li B, Leal SM. Li B, et al. Among authors: leal sm. Hum Hered. 2009;67(2):104-15. doi: 10.1159/000179558. Epub 2008 Dec 12. Hum Hered. 2009. PMID: 19077427 Free PMC article.

7

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

McBride KL, Zender GA, Fitzgerald-Butt SM, Koehler D, Menesses-Diaz A, Fernbach S, Lee K, Towbin JA, Leal S, Belmont JW. McBride KL, et al. Among authors: leal s. Eur J Hum Genet. 2009 Jun;17(6):811-9. doi: 10.1038/ejhg.2008.255. Epub 2009 Jan 14. Eur J Hum Genet. 2009. PMID: 19142209 Free PMC article.

8

Discovery of rare variants via sequencing: implications for the design of complex trait association studies.

Li B, Leal SM. Li B, et al. Among authors: leal sm. PLoS Genet. 2009 May;5(5):e1000481. doi: 10.1371/journal.pgen.1000481. Epub 2009 May 15. PLoS Genet. 2009. PMID: 19436704 Free PMC article.

9

A novel adaptive method for the analysis of next-generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions.

Liu DJ, Leal SM. Liu DJ, et al. Among authors: leal sm. PLoS Genet. 2010 Oct 14;6(10):e1001156. doi: 10.1371/journal.pgen.1001156. PLoS Genet. 2010. PMID: 20976247 Free PMC article.

10

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.

Prakash SK, LeMaire SA, Guo DC, Russell L, Regalado ES, Golabbakhsh H, Johnson RJ, Safi HJ, Estrera AL, Coselli JS, Bray MS, Leal SM, Milewicz DM, Belmont JW. Prakash SK, et al. Among authors: leal sm. Am J Hum Genet. 2010 Dec 10;87(6):743-56. doi: 10.1016/j.ajhg.2010.09.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092924 Free PMC article.

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