검색결과 : 7건
| No. | Article |
|---|---|
| 1 |
Whole-genome sequencing of patients with rare diseases in a national health system Turro E, Astle WJ, Megy K, Graf 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, Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH Nature, 583(7814), 96, 2020 |
| 2 |
Whole-genome sequencing of patients with rare diseases in a national health system Turro E, Astle WJ, Megy K, Graf 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, Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH Nature, 583(7814), 96, 2020 |
| 3 |
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, Attwood A, Brown M, Brod NC, Crisp-Hihn A, Davis J, Deevi SVV, Dewhurst EF, Edwards K, Erwood M, Fox J, Frary AJ, Hu FY, Jolley J, Kingston N, Linger R, Mapeta R, Martin J, Meacham S, Papadia S, Rayner-Matthews PJ, Samarghitean C, Shamardina O, Simeoni I, Staines S, Staples E, Stark H, Stephens J, Titterton C, Tuna S, von Ziegenweidt J, Watt C, Whitehorn D, Wood Y, Yates K, Yu P, James R, Ashford S, Penkett CJ, Stirrups KE, Bariana T, Lentaigne C, Sivapalaratnam S, Westbury SK, Allsup DJ, Bakchoul T, Biss T, Boyce S, Collins J, Collins PW, Curry NS, Downes K, Dutt T, Erber WN, Evans G, Everington T, Favier R, Gomez K, Greene D, Gresele P, Hart D, Kazmi R, Kelly AM, Lambert M, Madan B, Mangles S, Mathias M, Millar C, Obaji S, Peerlinck K, Roughley C, Schulman S, Scully M, Shapiro SE, Sibson K, Simeoni I, Sims MC, Tait RC, Talks K, Thys C, Toh CH, Geet C, Westwood JP, Papadia S, Mumford AD, Ouwehand WH, Freson K, Laffan MA, Tan RYY, Harkness K, Mehta S, Muir KW, Hassan A, Traylor M, Drazyk AM, Markus HS, Parry D, Ahmed M, Kazkaz H, Vandersteen AM, Aitman TJ, Ormondroyd E, Thomson K, Dent T, Brennan P, Buchan RJ, Bueser T, Carr-White G, Cook S, Daniels MJ, Harper AR, Ware JS, Watkins H, Dixon PH, Chambers J, Cheng F, Estiu MC, Hague WM, Marschall HU, Vazquez-Lopez M, Williamson C, Arno G, Dewhurst EF, Erwood M, French CE, Michaelides M, Moore AT, Sanchis-Juan A, Carss K, Webster AR, Raymond FL, Chinnery PF, Griffiths P, Horvath R, Hudson G, Jurkute N, Pyle A, Wei W, Yu-Wai-Man P, Whitworth J, Adlard J, Ahmed M, Armstrong R, Brewer C, Casey R, Cole TRP, Evans DG, Greenhalgh L, Hanson HL, Hoffman J, Izatt L, Kumar A, Lalloo F, Ong KR, Park SM, Searle C, Side L, Snape K, Woodward E, Tischkowitz M, Maher ER, Carss K, Dewhurst EF, Erwood M, French CE, Grozeva D, Kurian MA, Themistocleous AC, Gosal D, Horvath R, Marshall A, Matthews E, McCarthy MI, Renton T, Rice ASC, Vale T, Walker SM, Woods CG, Bennett DL, Thaventhiran JE, Allen HL, Savic S, Alachkar H, Antrobus R, Baxendale HE, Browning MJ, Buckland MS, Cooper N, Edgar JDM, Egner W, Gilmour KC, Goddard S, Gordins P, Grigoriadou S, Hackett S, Hague R, Hayman G, Herwadkar A, Huissoon AP, Jolles S, Kelleher P, Kumararatne D, Longhurst H, Lorenzo LE, Lyons PA, Maimaris J, Noorani S, Richter A, Samarghitean C, Sargur RB, Sewell WAC, Simeoni I, Staples E, Thomas D, Thomas MJ, Worth A, Yong PFK, Kuijpers TW, Thrasher AJ, Smith KGC, Levine AP, Sadeghi-Alavijeh O, Wong EKS, Cook HT, Chan MMY, Hall M, Harris C, McAlinden P, Marchbank KJ, Marks S, Maxwell H, Mozere M, Wessels J, Johnson SA, Gale DP, Bleda M, Hadinnapola C, Haimel M, Swietlik E, Bogaard H, Church C, Coghlan G, Condliffe R, Corris P, Danesino C, Eyries M, Gall H, Ghofrani HA, Gibbs JSR, Girerd B, Holden S, Houweling A, Howard LS, Humbert M, Kiely DG, Kovacs G, Lawrie A, Ross RVM, Martin J, Moledina S, Montani D, Newnham M, Olschewski A, Olschewski H, Peacock A, Pepke-Zaba J, Scelsi L, Seeger W, Soubrier F, Suntharalingam J, Toshner M, Treacy C, Trembath R, Noordegraaf AV, Waisfisz Q, Wharton J, Wilkins MR, Wort SJ, Yates K, Graf S, Morrell NW, Louka E, Roy NB, Rao A, Ancliff P, Babbs C, Layton DM, Mead AJ, O'Sullivan J, Okoli S, Roberts I, Saleem M, Bierzynska A, Diz CB, Colby E, Ekani MN, Satchell S, Koziell A, Fowler T, Rendon A, Scott R, Smedley D, Smith KR, Thomas E, Caulfield M, Abbs S, Burrows N, Chitre M, Dewhurst EF, Floto RA, Gattens M, Gurnell M, Holden S, Kelsall W, Mehta S, Poole KES, Ross-Russell R, Spasic-Boskovic O, Twiss P, Wagner A, Banka S, Black GC, Clayton-Smith J, Douzgou S, Newman WG, Abulhoul L, Aurora P, Bockenhauer D, Cleary M, Dattani M, Ganesan V, Pilkington C, Rahman S, Shah N, Wedderburn L, Bitner-Glindzicz MAK, Bueser T, Compton CJ, Deshpande C, Fassihi H, Haque E, Izatt L, Josifova D, Mohammed SN, Robert L, Rose SJ, Ruddy DM, Sarkany RN, Sayer G, Shaw AC, Irving M, Flinter FA, Campbell C, Gibson K, Koelling N, Lester T, Nemeth AH, Palles C, Patel S, Roy NB, Sen A, Taylor J, Tomlinson IP, Taylor JC, Wilkie AOM, Arno G, Malka S, Michaelides M, Moore AT, Webster AR, Brennan P, Browning AC, Burn J, Chinnery PF, De Soyza A, Graham J, Horvath R, Pearce S, Quinton R, Schaefer AM, Wilson BT, Wright M, Yu-Wai-Man P, Sayer JA, Simpson M, Syrris P, Elliott P, Houlden H, Beales PL, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF Science, 364(6442), 749, 2019 |
| 4 |
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition Sciacovelli M, Goncalves E, Johnson TI, Zecchini VR, da Costa ASH, Gaude E, Drubbel AV, Theobald SJ, Abbo SR, Tran MGB, Rajeeve V, Cardaci S, Foster S, Yun HY, Cutillas P, Warren A, Gnanapragasam V, Gottlieb E, Franze K, Huntly B, Maher ER, Maxwell PH, Saez-Rodriguez J, Frezza C Nature, 537(7621), 544, 2016 |
| 5 |
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition (vol 537, pg 544, 2016) Sciacovelli M, Goncalves E, Johnson TI, Zecchini VR, da Costa ASH, Gaude E, Drubbel AV, Theobald SJ, Abbo SR, Tran MGB, Rajeeve V, Cardaci S, Foster S, Yun HY, Cutillas P, Warren A, Gnanapragasam V, Gottlieb E, Franze K, Huntly B, Maher ER, Maxwell PH, Saez-Rodriguez J, Frezza C Nature, 540(7631), -, 2016 |
| 6 |
Health and population effects of rare gene knockouts in adult humans with related parents Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ, Barnes MER, Barnett AH, Bates C, Bellary S, Bockett NA, Giorda K, Griffiths CJ, Hemingway H, Jia ZL, Kelly MA, Khawaja HA, Lek M, McCarthy S, McEachan R, O'Donnell-Luria A, Paigen K, Parisinos CA, Sheridan E, Southgate L, Tee L, Thomas M, Xue YL, Schnall-Levin M, Petkov PM, -Smith CT, Maher ER, Trembath RC, MacArthur DG, Wright J, Durbin R, Heel DA Science, 352(6284), 474, 2016 |
| 7 |
The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis Maxwell PH, Wiesener MS, Chang GW, Clifford SC, Vaux EC, Cockman ME, Wykoff CC, Pugh CW, Maher ER, Ratcliffe PJ Nature, 399(6733), 271, 1999 |