검색결과 : 12건
| 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 |
Ion-induced nucleation of pure biogenic particles Kirkby J, Duplissy J, Sengupta K, Frege C, Gordon H, Williamson C, Heinritzi M, Simon M, Yan C, Almeida J, Trostl J, Nieminen T, Ortega IK, Wagner R, Adamov A, Amorim A, Bernhammer AK, Bianchi F, Breitenlechner M, Brilke S, Chen XM, Craven J, Dias A, Ehrhart S, Flagan RC, Franchin A, Fuchs C, Guida R, Hakala J, Hoyle CR, Jokinen T, Junninen H, Kangasluoma J, Kim J, Krapf M, Kurten A, Laaksonen A, Lehtipalo K, Makhmutov V, Mathot S, Molteni U, Onnela A, Perakyla O, Piel F, Petaja T, Praplan AP, Pringle K, Rap A, Richards NAD, Riipinen I, Rissanen MP, Rondo L, Sarnela N, Schobesberger S, Scott CE, Seinfeld JH, Sipila M, Steiner G, Stozhkov Y, Stratmann F, Tome A, Virtanen A, Vogel AL, Wagner AC, Wagner PE, Weingartner E, Wimmer D, Winkler PM, Ye PL, Zhang X, Hansel A, Dommen J, Donahue NM, Worsnop DR, Baltensperger U, Kulmala M, Carslaw KS, Curtius J Nature, 533(7604), 521, 2016 |
| 5 |
The role of low-volatility organic compounds in initial particle growth in the atmosphere Trostl J, Chuang WK, Gordon H, Heinritzi M, Yan C, Molteni U, Ahlm L, Frege C, Bianchi F, Wagner R, Simon M, Lehtipalo K, Williamson C, Craven JS, Duplissy J, Adamov A, Almeida J, Bernhammer AK, Breitenlechner M, Brilke S, Dias A, Ehrhart S, Flagan RC, Franchin A, Fuchs C, Guida R, Gysel M, Hansel A, Hoyle CR, Jokinen T, Junninen H, Kangasluoma J, Keskinen H, Kim J, Krapf M, Kurten A, Laaksonen A, Lawler M, Leiminger M, Mathot S, Mohler O, Nieminen T, Onnela A, Petaja T, Piel FM, Miettinen P, Rissanen MP, Rondo L, Sarnela N, Schobesberger S, Sengupta K, Sipilaa M, Smith JN, Steiner G, Tome A, Virtanen A, Wagner AC, Weingartner E, Wimmer D, Winkler PM, Ye PL, Carslaw KS, Curtius J, Dommen J, Kirkby J, Kulmala M, Riipinen I, Worsnop DR, Donahue NM, Baltensperger U Nature, 533(7604), 527, 2016 |
| 6 |
New particle formation in the free troposphere: A question of chemistry and timing Bianchi F, Trostl J, Junninen H, Frege C, Henne S, Hoyle CR, Molteni U, Herrmann E, Adamov A, Bukowiecki N, Chen X, Duplissy J, Gysel M, Hutterli M, Kangasluoma J, Kontkanen J, Kurten A, Manninen HE, Munch S, Perakyla O, Petaja T, Rondo L, Williamson C, Weingartner E, Curtius J, Worsnop DR, Kulmala M, Dommen J, Baltensperger U Science, 352(6289), 1109, 2016 |
| 7 |
Global atmospheric particle formation from CERN CLOUD measurements Dunne EM, Gordon H, Kurten A, Almeida J, Duplissy J, Williamson C, Ortega IK, Pringle KJ, Adamov A, Baltensperger U, Barmet P, Benduhn F, Bianchi F, Breitenlechner M, Clarke A, Curtius J, Dommen J, Donahue NM, Ehrhart S, Flagan RC, Franchin A, Guida R, Hakala J, Hansel A, Heinritzi M, Jokinen T, Kangasluoma J, Kirkby J, Kulmala M, Kupc A, Lawler MJ, Lehtipalo K, Makhmutov V, Mann G, Mathot S, Merikanto J, Miettinen P, Nenes A, Onnela A, Rap A, Reddington CLS, Riccobono F, Richards NAD, Rissanen MP, Rondo L, Sarnela N, Schobesberger S, Sengupta K, Simon M, Sipilaa M, Smith JN, Stozkhov Y, Tome A, Trostl J, Wagner PE, Wimmer D, Winkler PM, Worsnop DR, Carslaw KS Science, 354(6316), 1119, 2016 |
| 8 |
Developmental pathway for potent V1V2-directed HIV-neutralizing antibodies Doria-Rose NA, Schramm CA, Gorman J, Moore PL, Bhiman JN, DeKosky BJ, Ernandes MJ, Georgiev IS, Kim HJ, Pancera M, Staupe RP, Altae-Tran HR, Bailer RT, Crooks ET, Cupo A, Druz A, Garrett NJ, Hoi KH, Kong R, Louder MK, Longo NS, McKee K, Nonyane M, O'Dell S, Roark RS, Rudicell RS, Schmidt SD, Sheward DJ, Soto C, Wibmer CK, Yang YP, Zhang ZH, Mullikin JC, Binley JM, Sanders RW, Wilson IA, Moore JP, Ward AB, Georgiou G, Williamson C, Karim SSA, Morris L, Kwong PD, Shapiro L, Mascola JR Nature, 509(7498), 55, 2014 |
| 9 |
Comprehensive molecular profiling of lung adenocarcinoma (vol 489, pg 519, 2012) Collisson EA, Campbell JD, Brooks AN, Berger AH, Lee W, Chmielecki J, Beers DG, Cope L, Creighton CJ, Danilova L, Ding L, Getz G, Hammerman PS, Hayes DN, Hernandez B, Herman JG, Heymach JV, Jurisica I, Kucherlapati R, Kwiatkowski D, Ladanyi M, Robertson G, Schultz N, Shen RL, Sinha R, Sougnez C, Tsao MS, Travis WD, Weinstein JN, Wigle DA, Wilkerson MD, Chu A, Cherniack AD, Hadjipanayis A, Rosenberg M, Weisenberger DJ, Laird PW, Radenbaugh A, Ma S, Stuart JM, Byers LA, Baylin SB, Govindan R, Meyerson M, Rosenberg M, Gabriel SB, Cibulskis K, Sougnez C, Kim J, Stewart C, Lichtenstein L, Lander ES, Lawrence MS, Getz, Kandoth C, Fulton R, Fulton LL, McLellan MD, Wilson RK, Ye K, Fronick CC, Maher CA, Miller CA, Wendl MC, Cabanski C, Ding L, Mardis E, Govindan R, Creighton CJ, Wheeler D, Balasundaraml M, Butterfield YSN, Carlsen R, Chu A, Chuah E, Dhalla N, Guin R, Hirst C, Lee D, Li HYI, Mayo M, Moore RA, Mungall AJ, Schein JE, Sipahimalani P, Tam A, Varhol R, Robertson AG, Wye N, Thiessen N, Holt RA, Jones SJM, Marra MA, Campbell JD, Brooks AN, Chmielecki J, Imielinski M, Onofrio RC, Hodis E, Zack T, Sougnez C, Helman E, Pedamallu CS, Mesirov J, Cherniack AD, Saksena G, Schumacher SE, Carter SL, Hernandez B, Garraway L, Beroukhim R, Gabriel SB, Getz G, Meyerson M, Hadjipanayis A, Lee S, Mahadeshwar HS, Pantazi A, Protopopov A, Ren XJ, Seth S, Song XZ, Tang JB, Yang LX, Zhang JH, Chen PC, Parfenov M, Xu AW, Santoso N, Chin L, Park PJ, Kucherlapati R, Hoadley KA, Auman JT, Meng SW, Shi Y, Buda E, Waring S, Veluvolu U, Tan DH, Mieczkowski PA, Jones CD, Simons JV, Soloway MG, Bodenheimer T, Jefferys SR, Roach J, Hoyle AP, Wu JY, Balu S, Singh D, Prins JF, Marron JS, Parker JS, Hayes DN, Perou CM, Liu JZ, Cope L, Danilova L, Weisenberger DJ, Maglinte DT, Lai PH, Bootwalla MS, Van den Berg DJ, Triche T, Baylin SB, Laird PW, Rosenberg M, Chin L, Zhang J, Cho J, DiCara D, Heiman D, Lin P, Mallard W, Voet D, Zhang HL, Zou LH, Noble MS, Lawrence MS, Saksena G, Gehlenborg N, Thorvaldsdottir H, Mesirov J, Nazaire MD, Robinson J, Getz G, Lee W, Aksoy BA, Ciriello G, Taylor BS, Dresdner G, Gao JJ, Grose B, Seshan VE, Ladanyi M, Reva B, Sinha R, Sumer SO, Weinhold N, Schultz N, Shen RL, Sander C, Ng S, Ma SE, Zhu JC, Radenbaugh A, Stuart JM, Benz CC, Yau C, Haussler D, Spellman PT, Wilkerson MD, Parker JS, Hoadley KA, Kimes PK, Hayes DN, Perou CM, Broom BM, Wang J, Lu YL, Ng PKS, Diao LX, Byers LA, Liu WB, Heymach JV, Amos CI, Weinstein JN, Akbani R, Mills GB, Curley E, Paulauskis J, Lau K, Morris S, Shelton T, Mallery D, Gardner J, Penny R, Saller C, Tarvin K, Richards WG, Cerfolio R, Bryant A, Raymond DP, Pennell NA, Farver C, Czerwinski C, Huelsenbeck-Dill L, Iacocca M, Petrelli N, Rabeno B, Brown J, Bauer T, Dolzhanskiy O, Potapova O, Rotin D, Voronina O, Nemirovich-Danchenko E, Fedosenko KV, Gal A, Behera M, Ramalingam SS, Sica G, Flieder D, Boyd J, Weaver J, Kohl B, Thinh DHQ, Sanduskys G, Juhl H, Duhig E, Illei P, Gabrielson E, Shin J, Lee B, Rogers K, Trusty D, Brock MV, Williamson C, Burks E, Rieger-Christ K, Holway A, Sullivan T, Wigle DA, Asiedu MK, Kosari F, Travis WD, Rekhtman N, Zakowski M, Rusch VW, Zippile P, Suh J, Pass H, Goparaju C, Owusu-Sarpong Y, Bartlett JMS, Kodeeswaran S, Parfitt J, Sekhon H, Albert M, Eckman J, Myers JB, Cheney R, Morrison C, Gaudioso C, Borgia JA, Bonomi P, Pool M, Liptay MJ, Moiseenko F, Zaytseva I, Dienemann H, Meister M, Schnabel PA, Muley TR, Peifer M, Gomez-Fernandez C, Herbert L, Egea S, Huang M, Thorne LB, Boice L, Salazar AH, Funkhouser WK, Rathmell WK, Dhir R, Yousem SA, Dacic S, Schneider F, Siegfried JM, Hajek R, Watson MA, McDonald S, Meyers B, Clarke B, Yang IA, Fong KM, Hunter L, Windsor M, Bowman RV, Peters S, Letovanec I, Khan KZ, Jensen MA, Snyder EE, Srinivasan D, Kahn AB, Baboud J, Pot DA, Shaw KRM, Sheth M, Davidsen T, Demchok JA, Yang LM, Wang ZN, Tarnuzzer R, Zenklusen JC, Ozenberger BA, Sofia HJ, Travis WD, Cheney R, Clarke B, Dacic S, Duhig E, Funkhouser WK, Illei P, Farver C, Rekhtman N, Sica G, Suh J, Tsao MS Nature, 513(7517), 543, 2014 |
| 10 |
Molecular understanding of sulphuric acid-amine particle nucleation in the atmosphere Almeida J, Schobesberger S, Kurten A, Ortega IK, Kupiainen-Maatta O, Praplan AP, Adamov A, Amorim A, Bianchi F, Breitenlechner M, David A, Dommen J, Donahue NM, Downard A, Dunne E, Duplissy J, Ehrhart S, Flagan RC, Franchin A, Guida R, Hakala J, Hansel A, Heinritzi M, Henschel H, Jokinen T, Junninen H, Kajos M, Kangasluoma J, Keskinen H, Kupc A, Kurten T, Kvashin AN, Laaksonen A, Lehtipalo K, Leiminger M, Leppa J, Loukonen V, Makhmutov V, Mathot S, McGrath MJ, Nieminen T, Olenius T, Onnela A, Petaja T, Riccobono F, Riipinen I, Rissanen M, Rondo L, Ruuskanen T, Santos FD, Sarnela N, Schallhart S, Schnitzhofer R, Seinfeld JH, Simon M, Sipila M, Stozhkov Y, Stratmann F, Tome A, Trostl J, Tsagkogeorgas G, Vaattovaara P, Viisanen Y, Virtanen A, Vrtala A, Wagner PE, Weingartner E, Wex H, Williamson C, Wimmer D, Ye PL, Yli-Juuti T, Carslaw KS, Kulmala M, Curtius J, Baltensperger U, Worsnop DR, Vehkamaki H, Kirkby J Nature, 502(7471), 359, 2013 |