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A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Circulation. 2024 Oct 11. doi: 10.1161/CIRCULATIONAHA.124.069041. Online ahead of print.
Circulation. 2024.
PMID: 39391988
Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen.
McBride DJ, Fielding C, Newington T, Vatsiou A, Fischl H, Bajracharya M, Thomson VS, Fraser LJ, Fujita PA, Becq J, Kingsbury Z, Ross MT, Moat SJ, Morgan S.
McBride DJ, et al. Among authors: newington t.
Int J Neonatal Screen. 2023 Sep 21;9(3):52. doi: 10.3390/ijns9030052.
Int J Neonatal Screen. 2023.
PMID: 37754778
Free PMC article.
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Accurate whole human genome sequencing using reversible terminator chemistry.
Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP, Evers DJ, Barnes CL, Bignell HR, Boutell JM, Bryant J, Carter RJ, Keira Cheetham R, Cox AJ, Ellis DJ, Flatbush MR, Gormley NA, Humphray SJ, Irving LJ, Karbelashvili MS, Kirk SM, Li H, Liu X, Maisinger KS, Murray LJ, Obradovic B, Ost T, Parkinson ML, Pratt MR, Rasolonjatovo IM, Reed MT, Rigatti R, Rodighiero C, Ross MT, Sabot A, Sankar SV, Scally A, Schroth GP, Smith ME, Smith VP, Spiridou A, Torrance PE, Tzonev SS, Vermaas EH, Walter K, Wu X, Zhang L, Alam MD, Anastasi C, Aniebo IC, Bailey DM, Bancarz IR, Banerjee S, Barbour SG, Baybayan PA, Benoit VA, Benson KF, Bevis C, Black PJ, Boodhun A, Brennan JS, Bridgham JA, Brown RC, Brown AA, Buermann DH, Bundu AA, Burrows JC, Carter NP, Castillo N, Chiara E Catenazzi M, Chang S, Neil Cooley R, Crake NR, Dada OO, Diakoumakos KD, Dominguez-Fernandez B, Earnshaw DJ, Egbujor UC, Elmore DW, Etchin SS, Ewan MR, Fedurco M, Fraser LJ, Fuentes Fajardo KV, Scott Furey W, George D, Gietzen KJ, Goddard CP, Golda GS, Granieri PA, Green DE, Gustafson DL, Hansen NF, Harnish K, Haudenschild CD, Heyer NI, Hims MM, Ho JT, Horgan AM, Hoschler K, Hurwitz S, Ivanov DV, Johns…
See abstract for full author list ➔
Bentley DR, et al. Among authors: newington t.
Nature. 2008 Nov 6;456(7218):53-9. doi: 10.1038/nature07517.
Nature. 2008.
PMID: 18987734
Free PMC article.
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