Pena SDJ - Search Results

1

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions.

Watson CM, Crinnion LA, Lindsay H, Mitchell R, Camm N, Robinson R, Joyce C, Tanteles GA, Halloran DJO, Pena SDJ, Carr IM, Bonthron DT. Watson CM, et al. Among authors: pena sdj. Lab Invest. 2021 Apr;101(4):442-449. doi: 10.1038/s41374-020-00489-y. Epub 2020 Sep 28. Lab Invest. 2021. PMID: 32989232 Free article.

2

Estimating the degree of identity by descent in consanguineous couples.

Carr IM, Markham SA, Pena SD. Carr IM, et al. Hum Mutat. 2011 Dec;32(12):1350-8. doi: 10.1002/humu.21584. Epub 2011 Sep 23. Hum Mutat. 2011. PMID: 21901788

3

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.

Carr IM, Diggle CP, Khan K, Inglehearn C, McKibbin M, Bonthron DT, Markham AF, Anwar R, Dobbie A, Pena SD, Ali M. Carr IM, et al. PLoS One. 2012;7(8):e43466. doi: 10.1371/journal.pone.0043466. Epub 2012 Aug 17. PLoS One. 2012. PMID: 22912880 Free PMC article.

4

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.

Carr IM, Morgan J, Watson C, Melnik S, Diggle CP, Logan CV, Harrison SM, Taylor GR, Pena SD, Markham AF, Alkuraya FS, Black GC, Ali M, Bonthron DT. Carr IM, et al. Hum Mutat. 2013 Jul;34(7):945-52. doi: 10.1002/humu.22322. Epub 2013 Apr 29. Hum Mutat. 2013. PMID: 23554237

5

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Watson CM, Crinnion LA, Gurgel-Gianetti J, Harrison SM, Daly C, Antanavicuite A, Lascelles C, Markham AF, Pena SD, Bonthron DT, Carr IM. Watson CM, et al. Hum Mutat. 2015 Sep;36(9):823-30. doi: 10.1002/humu.22818. Epub 2015 Jul 22. Hum Mutat. 2015. PMID: 26037133 Free PMC article.

6

Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.

G C C L Cardenas R, D Linhares N, L Ferreira R, Pena SDJ. G C C L Cardenas R, et al. Among authors: pena sdj. PLoS Comput Biol. 2017 Jun 8;13(6):e1005520. doi: 10.1371/journal.pcbi.1005520. eCollection 2017 Jun. PLoS Comput Biol. 2017. PMID: 28594829 Free PMC article.

7

Automated Genotyping of a Highly Informative Panel of 40 Short Insertion-Deletion Polymorphisms Resolved in Polyacrylamide Gels for Forensic Identification and Kinship Analysis.

Pena HB, Pena SD. Pena HB, et al. Transfus Med Hemother. 2012 Jun;39(3):211-216. doi: 10.1159/000338854. Epub 2012 May 11. Transfus Med Hemother. 2012. PMID: 22851937 Free PMC article.

8

The mutational spectrum of human autosomal tetranucleotide microsatellites.

Leopoldino AM, Pena SD. Leopoldino AM, et al. Hum Mutat. 2003 Jan;21(1):71-9. doi: 10.1002/humu.10153. Hum Mutat. 2003. PMID: 12497633

9

No association found between gr/gr deletions and infertility in Brazilian males.

Carvalho CM, Zuccherato LW, Bastos-Rodrigues L, Santos FR, Pena SD. Carvalho CM, et al. Mol Hum Reprod. 2006 Apr;12(4):269-73. doi: 10.1093/molehr/gal029. Epub 2006 Apr 5. Mol Hum Reprod. 2006. PMID: 16597640

10

The genetic structure of human populations studied through short insertion-deletion polymorphisms.

Bastos-Rodrigues L, Pimenta JR, Pena SD. Bastos-Rodrigues L, et al. Ann Hum Genet. 2006 Sep;70(Pt 5):658-65. doi: 10.1111/j.1469-1809.2006.00287.x. Ann Hum Genet. 2006. PMID: 16907710

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