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Page 1
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson KL, Ormondroyd E, Harper AR, Dent T, McGuire K, Baksi J, Blair E, Brennan P, Buchan R, Bueser T, Campbell C, Carr-White G, Cook S, Daniels M, Deevi SVV, Goodship J, Hayesmoore JBG, Henderson A, Lamb T, Prasad S, Rayner-Matthews P, Robert L, Sneddon L, Stark H, Walsh R, Ware JS, Farrall M, Watkins HC; NIHR BioResource – Rare Diseases Consortium. Thomson KL, et al. Among authors: dent t. Genet Med. 2019 Jul;21(7):1576-1584. doi: 10.1038/s41436-018-0375-z. Epub 2018 Dec 11. Genet Med. 2019. PMID: 30531895 Free PMC article.
Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Wei W, et al. Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23. Science. 2019. PMID: 31123110 Free article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6. Nature. 2020. PMID: 32678341
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall HU, Gale DP, Williamson C. Dixon PH, et al. Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z. Nat Commun. 2022. PMID: 35977952 Free PMC article.
Metabolic profiling of aortic stenosis and hypertrophic cardiomyopathy identifies mechanistic contrasts in substrate utilization.
Pal N, Acharjee A, Ament Z, Dent T, Yavari A, Mahmod M, Ariga R, West J, Steeples V, Cassar M, Howell NJ, Lockstone H, Elliott K, Yavari P, Briggs W, Frenneaux M, Prendergast B, Dwight JS, Kharbanda R, Watkins H, Ashrafian H, Griffin JL. Pal N, et al. Among authors: dent t. FASEB J. 2024 Mar 31;38(6):e23505. doi: 10.1096/fj.202301710RR. FASEB J. 2024. PMID: 38507255
Low-latency gravitational wave alert products and their performance at the time of the fourth LIGO-Virgo-KAGRA observing run.
Chaudhary SS, Toivonen A, Waratkar G, Mo G, Chatterjee D, Antier S, Brockill P, Coughlin MW, Essick R, Ghosh S, Morisaki S, Baral P, Baylor A, Adhikari N, Brady P, Cabourn Davies G, Dal Canton T, Cavaglia M, Creighton J, Choudhary S, Chu YK, Clearwater P, Davis L, Dent T, Drago M, Ewing B, Godwin P, Guo W, Hanna C, Huxford R, Harry I, Katsavounidis E, Kovalam M, Li AKY, Magee R, Marx E, Meacher D, Messick C, Morice-Atkinson X, Pace A, De Pietri R, Piotrzkowski B, Roy S, Sachdev S, Singer LP, Singh D, Szczepanczyk M, Tang D, Trevor M, Tsukada L, Villa-Ortega V, Wen L, Wysocki D. Chaudhary SS, et al. Among authors: dent t. Proc Natl Acad Sci U S A. 2024 Apr 30;121(18):e2316474121. doi: 10.1073/pnas.2316474121. Epub 2024 Apr 23. Proc Natl Acad Sci U S A. 2024. PMID: 38652749
Search for Subsolar-Mass Binaries in the First Half of Advanced LIGO's and Advanced Virgo's Third Observing Run.
Abbott R, Abbott TD, Acernese F, Ackley K, Adams C, Adhikari N, Adhikari RX, Adya VB, Affeldt C, Agarwal D, Agathos M, Agatsuma K, Aggarwal N, Aguiar OD, Aiello L, Ain A, Ajith P, Albanesi S, Allocca A, Altin PA, Amato A, Anand C, Anand S, Ananyeva A, Anderson SB, Anderson WG, Andrade T, Andres N, Andrić T, Angelova SV, Ansoldi S, Antelis JM, Antier S, Appert S, Arai K, Araya MC, Areeda JS, Arène M, Arnaud N, Aronson SM, Arun KG, Asali Y, Ashton G, Assiduo M, Aston SM, Astone P, Aubin F, Austin C, Babak S, Badaracco F, Bader MKM, Badger C, Bae S, Baer AM, Bagnasco S, Bai Y, Baird J, Ball M, Ballardin G, Ballmer SW, Balsamo A, Baltus G, Banagiri S, Bankar D, Barayoga JC, Barbieri C, Barish BC, Barker D, Barneo P, Barone F, Barr B, Barsotti L, Barsuglia M, Barta D, Bartlett J, Barton MA, Bartos I, Bassiri R, Basti A, Bawaj M, Bayley JC, Baylor AC, Bazzan M, Bécsy B, Bedakihale VM, Bejger M, Belahcene I, Benedetto V, Beniwal D, Bennett TF, Bentley JD, BenYaala M, Bergamin F, Berger BK, Bernuzzi S, Berry CPL, Bersanetti D, Bertolini A, Betzwieser J, Beveridge D, Bhandare R, Bhardwaj U, Bhattacharjee D, Bhaumik S, Bilenko IA, Billingsley G, Bini S, Birney R, Birnholtz O, Biscans S, Bis… See abstract for full author list ➔ Abbott R, et al. Among authors: dent t. Phys Rev Lett. 2022 Aug 5;129(6):061104. doi: 10.1103/PhysRevLett.129.061104. Phys Rev Lett. 2022. PMID: 36018635 Free article.
162 results