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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: ganesan v. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 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 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.
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.
Hong Y, Keylock A, Jensen B, Jacques TS, Ogunbiyi O, Omoyinmi E, Saunders D, Mallick AA, Tooley M, Newbury-Ecob R, Rankin J, Williams HJ, Ganesan V, Brogan PA, Eleftheriou D. Hong Y, et al. Among authors: ganesan v. Neurol Genet. 2020 Jun 10;6(4):e448. doi: 10.1212/NXG.0000000000000448. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32637631 Free PMC article.
Self-reported needs after pediatric stroke.
Gordon AL, Nguyen L, Panton A, Mallick AA, Ganesan V, Wraige E, McKevitt C. Gordon AL, et al. Among authors: ganesan v. Eur J Paediatr Neurol. 2018 Sep;22(5):791-796. doi: 10.1016/j.ejpn.2018.06.003. Epub 2018 Jun 18. Eur J Paediatr Neurol. 2018. PMID: 29960841
Feasibility of comparing medical management and surgery (with neurosurgery or stereotactic radiosurgery) with medical management alone in people with symptomatic brain cavernoma - protocol for the Cavernomas: A Randomised Effectiveness (CARE) pilot trial.
Loan JJM, Bacon A, van Beijnum J, Bhatt P, Bjornson A, Broomes N, Bullen A, Bulters D, Cahill J, Chavredakis E, Colombo F, Danciut M, Digpal R, Edwards RJ, Ferguson L, Forsyth L, Fouyas I, Ganesan V, Grover P, Gurusinghe N, Hall PS, Harkness K, Harris LS, Hayton T, Helmy A, Holsgrove D, Hutchinson PJ, Israni A, Kinsella E, Lewis S, Majeed S, Mallucci C, Mukerji N, Nair R, Neilson AR, Papadopoulos MC, Radatz M, Rossdeutsch A, Raza-Knight S, Stephen J, Stoddart A, Teo M, Turner C, Wade J, Walsh D, White D, White P, Wildman J, Wroe Wright O, Uff C, Ushewokunze S, Vindlacheruvu R, Kitchen N, Al-Shahi Salman R; Cavernomas A Randomised Effectiveness (CARE) pilot trial collaborators. Loan JJM, et al. Among authors: ganesan v. BMJ Open. 2023 Aug 9;13(8):e075187. doi: 10.1136/bmjopen-2023-075187. BMJ Open. 2023. PMID: 37558454 Free PMC article.
Stroke is an important paediatric illness.
Chong WK, Saunders DE, Ganesan V. Chong WK, et al. Among authors: ganesan v. Pediatr Radiol. 2004 Jan;34(1):2-4. doi: 10.1007/s00247-003-1106-3. Epub 2003 Nov 28. Pediatr Radiol. 2004. PMID: 14647996 No abstract available.
519 results