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Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R, Said A, Akinrinade O, Breckpot J, Delfosse K, Liu T, Yao R, Persad G, McKenna F, Noche RR, Oliveros W, Mattioli K, Shah S, Miron A, Yang Q, Meng G, Yue MCS, Sung WWL, Thiruvahindrapuram B, Lougheed J, Oechslin E, Mondal T, Bergin L, Smythe J, Jayappa S, Rao VJ, Shenthar J, Dhandapany PS, Semsarian C, Weintraub RG, Bagnall RD, Ingles J; Genomics England Research Consortium; Melé M, Maass PG, Ellis J, Scherer SW, Mital S. Lesurf R, et al. Among authors: mital s. NPJ Genom Med. 2022 Mar 14;7(1):18. doi: 10.1038/s41525-022-00288-y. NPJ Genom Med. 2022. PMID: 35288587 Free PMC article.
Factors influencing participation in a population-based biorepository for childhood heart disease.
Papaz T, Safi M, Manickaraj AK, Ogaki C, Breaton Kyryliuk J, Burrill L, Dodge C, Chant-Gambacort C, Walter LL, Rosenberg H, Mondal T, Smythe J, Lougheed J, Bergin L, Gordon E, Chitayat D, Oechslin E, Mital S. Papaz T, et al. Among authors: mital s. Pediatrics. 2012 Nov;130(5):e1198-205. doi: 10.1542/peds.2012-0687. Epub 2012 Oct 8. Pediatrics. 2012. PMID: 23045559
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
D'Alessandro LC, Al Turki S, Manickaraj AK, Manase D, Mulder BJ, Bergin L, Rosenberg HC, Mondal T, Gordon E, Lougheed J, Smythe J, Devriendt K, Bhattacharya S, Watkins H, Bentham J, Bowdin S, Hurles ME, Mital S. D'Alessandro LC, et al. Among authors: mital s. Genet Med. 2016 Feb;18(2):189-98. doi: 10.1038/gim.2015.60. Epub 2015 May 21. Genet Med. 2016. PMID: 25996639 Free PMC article.
Return of genetic and genomic research findings: experience of a pediatric biorepository.
Papaz T, Liston E, Zahavich L, Stavropoulos DJ, Jobling RK, Kim RH, Reuter M, Miron A, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano-Diaz L, Lougheed J, Yao R, Akinrinade O, Breckpot J, Mital S. Papaz T, et al. Among authors: mital s. BMC Med Genomics. 2019 Nov 27;12(1):173. doi: 10.1186/s12920-019-0618-0. BMC Med Genomics. 2019. PMID: 31775751 Free PMC article.
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR, Reuter MS, Wei W, Tayebi N, Liu J, Sharmin S, Mulder J, Lesperance LS, Brauer PM, Mok RSF, Kinnear C, Piekna A, Romm A, Howe J, Pasceri P, Meng G, Rozycki M, Rodrigues DC, Martinez EC, Szego MJ, Zúñiga-Pflücker JC, Anderson MK, Prescott SA, Rosenblum ND, Kamath BM, Mital S, Scherer SW, Ellis J. Hildebrandt MR, et al. Among authors: mital s. Stem Cell Reports. 2019 Dec 10;13(6):1126-1141. doi: 10.1016/j.stemcr.2019.11.003. Stem Cell Reports. 2019. PMID: 31813827 Free PMC article.
257 results