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104 results

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Page 1
Sudden Cardiac Death in the Young.
Bagnall RD, Singer ES, Tfelt-Hansen J. Bagnall RD, et al. Heart Lung Circ. 2020 Apr;29(4):498-504. doi: 10.1016/j.hlc.2019.11.007. Epub 2019 Dec 12. Heart Lung Circ. 2020. PMID: 32029328 Review.
A Prospective Study of Sudden Cardiac Death among Children and Young Adults.
Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, Davis AM, Thompson T, Connell V, Wallace J, Naylor C, Crawford J, Love DR, Hallam L, White J, Lawrence C, Lynch M, Morgan N, James P, du Sart D, Puranik R, Langlois N, Vohra J, Winship I, Atherton J, McGaughran J, Skinner JR, Semsarian C. Bagnall RD, et al. N Engl J Med. 2016 Jun 23;374(25):2441-52. doi: 10.1056/NEJMoa1510687. N Engl J Med. 2016. PMID: 27332903 Free article.
Sudden Cardiac Death in Children and Young Adults.
Semsarian C, Bagnall RD. Semsarian C, et al. Among authors: bagnall rd. N Engl J Med. 2016 Sep 29;375(13):1301-2. doi: 10.1056/NEJMc1609620. N Engl J Med. 2016. PMID: 27682048 No abstract available.
Genetic Basis of Sudden Unexpected Death in Epilepsy.
Bagnall RD, Crompton DE, Semsarian C. Bagnall RD, et al. Front Neurol. 2017 Jul 20;8:348. doi: 10.3389/fneur.2017.00348. eCollection 2017. Front Neurol. 2017. PMID: 28775708 Free PMC article. Review.
Genetic Testing for Cardiomyopathies in Clinical Practice.
Ingles J, Bagnall RD, Semsarian C. Ingles J, et al. Among authors: bagnall rd. Heart Fail Clin. 2018 Apr;14(2):129-137. doi: 10.1016/j.hfc.2017.12.001. Heart Fail Clin. 2018. PMID: 29525642 Review.
Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population.
Clemens DJ, Gray B, Bagnall RD, Tester DJ, Dotzler SM, Giudicessi JR, Matthews E, Semsarian C, Behr ER, Ackerman MJ. Clemens DJ, et al. Among authors: bagnall rd. Circ Genom Precis Med. 2020 Apr;13(2):e002731. doi: 10.1161/CIRCGEN.119.002731. Epub 2020 Mar 13. Circ Genom Precis Med. 2020. PMID: 32167373
Genetic architecture of left ventricular noncompaction in adults.
Ross SB, Singer ES, Driscoll E, Nowak N, Yeates L, Puranik R, Sy RW, Rajagopalan S, Barratt A, Ingles J, Bagnall RD, Semsarian C. Ross SB, et al. Among authors: bagnall rd. Hum Genome Var. 2020 Oct 15;7:33. doi: 10.1038/s41439-020-00120-y. eCollection 2020. Hum Genome Var. 2020. PMID: 33082984 Free PMC article.
Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims.
Clemens DJ, Gray B, Bagnall RD, Tester DJ, Giudicessi JR, Maleszewski JJ, Crotti L, Schwartz PJ, Matthews E, Semsarian C, Behr ER, Ackerman MJ. Clemens DJ, et al. Among authors: bagnall rd. Circ Genom Precis Med. 2020 Dec;13(6):e003032. doi: 10.1161/CIRCGEN.120.003032. Epub 2020 Nov 15. Circ Genom Precis Med. 2020. PMID: 33191766 No abstract available.
[No title available]
[No authors listed] [No authors listed] PMID: 33419992
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Bennetts… See abstract for full author list ➔ Bournazos AM, et al. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Genetic Basis of Childhood Cardiomyopathy.
Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C. Bagnall RD, et al. Circ Genom Precis Med. 2022 Dec;15(6):e003686. doi: 10.1161/CIRCGEN.121.003686. Epub 2022 Oct 11. Circ Genom Precis Med. 2022. PMID: 36252119 Free article.
Splicing Functional Assays Into the Genetic Testing Pipeline.
Singer ES, Bagnall RD. Singer ES, et al. Among authors: bagnall rd. Circ Genom Precis Med. 2022 Dec;15(6):e003949. doi: 10.1161/CIRCGEN.122.003949. Epub 2022 Nov 9. Circ Genom Precis Med. 2022. PMID: 36350765 No abstract available.
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.
Stafford F, Krishnan N, Richardson E, Butters A, Hespe S, Burns C, Gray B, Medi C, Nowak N, Isbister JC, Raju H, Richmond D, Ryan MP, Singer ES, Sy RW, Yeates L, Bagnall RD, Semsarian C, Ingles J. Stafford F, et al. Among authors: bagnall rd. Genome Med. 2022 Dec 28;14(1):145. doi: 10.1186/s13073-022-01149-0. Genome Med. 2022. PMID: 36578016 Free PMC article.
Genetic basis of familial valvular heart disease.
Padang R, Bagnall RD, Semsarian C. Padang R, et al. Among authors: bagnall rd. Circ Cardiovasc Genet. 2012 Oct 1;5(5):569-80. doi: 10.1161/CIRCGENETICS.112.962894. Circ Cardiovasc Genet. 2012. PMID: 23074336 Review. No abstract available.
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche AE, Horvat C, Johnson R, Gayevskiy V, Morton SU, Drew AP, Woo K, Statham AL, Lundie B, Bagnall RD, Ingles J, Semsarian C, Seidman JG, Seidman CE, Dinger ME, Cowley MJ, Fatkin D. Minoche AE, et al. Among authors: bagnall rd. Genet Med. 2019 Mar;21(3):650-662. doi: 10.1038/s41436-018-0084-7. Epub 2018 Jul 2. Genet Med. 2019. PMID: 29961767 Free PMC article.
Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.
Soh MS, Bagnall RD, Bennett MF, Bleakley LE, Mohamed Syazwan ES, Phillips AM, Chiam MDF, McKenzie CE, Hildebrand M, Crompton D, Bahlo M, Semsarian C, Scheffer IE, Berkovic SF, Reid CA. Soh MS, et al. Among authors: bagnall rd. Ann Clin Transl Neurol. 2021 Jul;8(7):1422-1432. doi: 10.1002/acn3.51381. Epub 2021 May 18. Ann Clin Transl Neurol. 2021. PMID: 34002542 Free PMC article.
Response to Brodehl et al.
Minoche AE, Horvat C, Johnson R, Gayevskiy V, Morton SU, Drew AP, Woo K, Statham AL, Lundie B, Bagnall RD, Ingles J, Semsarian C, Seidman JG, Seidman CE, Dinger ME, Cowley MJ, Fatkin D. Minoche AE, et al. Among authors: bagnall rd. Genet Med. 2019 May;21(5):1248-1249. doi: 10.1038/s41436-018-0292-1. Epub 2018 Sep 28. Genet Med. 2019. PMID: 30262924 Free article. No abstract available.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET, Burns C, Marsili L, Corden B, Parikh VN, Te Meerman GJ, Gray B, Adiyaman A, Bagnall RD, Barge-Schaapveld DQCM, van den Berg MP, Bootsma M, Bosman LP, Correnti G, Duflou J, Eppinga RN, Fatkin D, Fietz M, Haan E, Jongbloed JDH, Hauer AD, Lam L, van Lint FHM, Lota A, Marcelis C, McCarthy HJ, van Mil AM, Oldenburg RA, Pachter N, Planken RN, Reuter C, Semsarian C, van der Smagt JJ, Thompson T, Vohra J, Volders PGA, van Waning JI, Whiffin N, van den Wijngaard A, Amin AS, Wilde AAM, van Woerden G, Yeates L, Zentner D, Ashley EA, Wheeler MT, Ware JS, van Tintelen JP, Ingles J. Hoorntje ET, et al. Among authors: bagnall rd. Circ Genom Precis Med. 2023 Feb;16(1):e003672. doi: 10.1161/CIRCGEN.121.003672. Epub 2022 Dec 29. Circ Genom Precis Med. 2023. PMID: 36580316 Free PMC article. Review.
Cranio-maxillary fixation using supra-orbital pins.
Wallace J, Bagnall RD. Wallace J, et al. Among authors: bagnall rd. Int J Oral Maxillofac Surg. 1986 Feb;15(1):8-11. doi: 10.1016/s0300-9785(86)80004-7. Int J Oral Maxillofac Surg. 1986. PMID: 3083008
LAMP2 shines a light on cardiomyopathy in an athlete.
Martin S, Ingles J, Hunyor I, Bagnall RD, Puranik R, Semsarian C. Martin S, et al. Among authors: bagnall rd. HeartRhythm Case Rep. 2017 Jan 13;3(3):172-176. doi: 10.1016/j.hrcr.2016.11.005. eCollection 2017 Mar. HeartRhythm Case Rep. 2017. PMID: 28491796 Free PMC article. No abstract available.
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: bagnall rd. 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.
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Ellingford JM, et al. Among authors: bagnall rd. Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3. Genome Med. 2022. PMID: 35850704 Free PMC article.
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.
Rayani K, Davies B, Cheung M, Comber D, Roberts JD, Tadros R, Green MS, Healey JS, Simpson CS, Sanatani S, Steinberg C, MacIntyre C, Angaran P, Duff H, Hamilton R, Arbour L, Leather R, Seifer C, Fournier A, Atallah J, Kimber S, Makanjee B, Alqarawi W, Cadrin-Tourigny J, Joza J, Gardner M, Talajic M, Bagnall RD, Krahn AD, Laksman ZWM. Rayani K, et al. Among authors: bagnall rd. Eur J Hum Genet. 2023 May;31(5):512-520. doi: 10.1038/s41431-022-01193-9. Epub 2022 Sep 22. Eur J Hum Genet. 2023. PMID: 36138163
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA, Fisher SA, Roberts RG, Nimmo ER, Cummings FR, Soars D, Drummond H, Lees CW, Khawaja SA, Bagnall R, Burke DA, Todhunter CE, Ahmad T, Onnie CM, McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC; Wellcome Trust Case Control Consortium; Cardon L, Mathew CG. Parkes M, et al. Nat Genet. 2007 Jul;39(7):830-2. doi: 10.1038/ng2061. Epub 2007 Jun 6. Nat Genet. 2007. PMID: 17554261 Free PMC article.
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F; Epilepsy Electroclinical Study Group; Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM. Ricos MG, et al. Ann Neurol. 2016 Jan;79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26505888
Sources of error in gnathosonics.
Bagnall RD, Tyson KW. Bagnall RD, et al. J Dent. 1992 Dec;20(6):377-8. doi: 10.1016/0300-5712(92)90033-9. J Dent. 1992. PMID: 1452881 No abstract available.
The science of dental materials.
Bagnall RD. Bagnall RD. Br Dent J. 1987 Apr 11;162(7):252. doi: 10.1038/sj.bdj.4806095. Br Dent J. 1987. PMID: 3472554 No abstract available.
104 results