검색결과 : 6건
| No. | Article |
|---|---|
| 1 |
Evaluating drug targets through human loss-of-function genetic variation (vol 581, pg 459, 2020) Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alfldi J, Trembath RC, van Heel DA, Daly MJ, Schreiber SL, MacArthur DG Nature, 590(7846), E56, 2021 |
| 2 |
Evaluating drug targets through human loss-of-function genetic variation Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alfoldi J, Trembath RC, van Heel DA, Daly MJ, Schreiber SL, MacArthur DG Nature, 581(7809), 459, 2020 |
| 3 |
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility Patsopoulos NA, Baranzini SE, Santaniello A, Shoostari P, Cotsapas C, Wong G, Beecham AH, James T, Replogle J, Vlachos IS, McCabe C, Pers TH, Brandes A, White C, Keenan B, Cimpean M, Winn P, Panteliadis IP, Robbins A, Andlauer TFM, Zarzycki O, Dubois B, Goris A, Sondergaard HB, Sellebjerg F, Sorensen PS, Ullum H, Thorner LW, Saarela J, Cournu-Rebeix I, Damotte V, Fontaine B, Guillot-Noel L, Lathrop M, Vukusic S, Berthele A, Pongratz V, Pongratz V, Gasperi C, Graetz C, Grummel V, Hemmer B, Hoshi M, Knier B, Korn T, Lill CM, Luessi F, Muhlau M, Zipp F, Dardiotis E, Agliardi C, Amoroso A, Barizzone N, Benedetti MD, Bernardinelli L, Cavalla P, Clarelli F, Comi G, Cusi D, Esposito F, Ferre L, Galimberti D, Guaschino C, Leone MA, Martinelli V, Moiola L, Salvetti M, Sorosina M, Vecchio D, Zauli A, Santoro S, Mancini N, Zuccala M, Mescheriakova J, van Duijn C, Bos SD, Celius EG, Spurkland A, Comabella M, Montalban X, Alfredsson L, Bomfim IL, Gomez-Cabrero D, Hillert J, Jagodic M, Linden M, Piehl F, Jelcic I, Martin R, Sospedra M, Baker A, Ban M, Hawkins C, Hysi P, Kalra S, Karpe F, Khadake J, Lachance G, Molyneux P, Neville M, Thorpe J, Bradshaw E, Caillier SJ, Calabresi P, Cree BAC, Cross A, Davis M, de Bakker PWI, Delgado S, Dembele M, Edwards K, Fitzgerald K, Frohlich IY, Gourraud PA, Haines JL, Hakonarson H, Kimbrough D, Isobe N, Konidari I, Lathi E, Lee MH, Li T, An D, Zimmer A, Madireddy L, Manrique CP, Mitrovic M, Olah M, Patrick E, Pericak-Vance MA, Piccio L, Schaefer C, Weiner H, Lage K, Scott RJ, Lechner-Scott J, Leal R, Moscato P, Booth DR, Stewart GJ, Vucic S, Pame G, BamettO M, Mason D, GriffithS L, Broadley S, Tajouri L, Baxter A, Slee M, Taylor BV, Charlesworth J, Kilpatrick TJ, Rubio J, Jokubaitis V, Wiley J, Butzkueven H, Leslie S, Motyer A, Stankovich J, Carroll WM, Kermode AG, Edrin M, Barclay M, Peyrin-Biroulet L, Chamaillard M, Colombe JF, Cottone M, Croft A, D'Inca R, Halfvarson J, Hanigan K, Henderson P, Hugot JP, Karban A, Kennedy NA, Khan MA, Lemann M, Levine A, Massey D, Milla M, Motoey GW, Ng SME, Oikonomnou J, Peeters H, Proctor DD, Rahier JF, Roberts R, Rutgeerts P, Seibold F, Stronati L, Taylor KM, Torkvist L, Ublick K, Van Limbergen J, Van Gossum A, Vatn MH, Zhang H, Zhang W, Donnelly P, Barroso I, Blackwe JM, Bramon E, Brown MA, Casas JP, Corvin A, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CNA, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Spencer CCA, Band G, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson R, Strange A, Sul Z, Vukcevic DA, Donnelly P, Langford C, Hunt SE, Edkins S, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P, Barroso I, Deloukas P, Mathew CG, Blackwe JM, Brown MA, Corvin A, Spencer CCA, Compston A, Hafler D, Harbo HF, Hauser SL, Stewart G, D'Alfonso S, Hadjigeorgiou G, Taylor B, Barcellos LF, Booth D, Hintzen R, Kockum I, Martinelli-Boneschi F, McCauley JL, Oksenberg JR, Oturai A, Sawcer S, Ivinson AJ, Olsson T, De Jager PL Science, 365(6460), 1417, 2019 |
| 4 |
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 |
| 5 |
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H, Brand O, Burren O, Capon F, Compston A, Gough SCL, Jostins L, Kong Y, Lee JC, Lek M, MacArthur DG, Mansfield JC, Mathew CG, Mein CA, Mirza M, Nutland S, Onengut-Gumuscu S, Papouli E, Parkes M, Rich SS, Sawcer S, Satsangi J, Simmonds MJ, Trembath RC, Walker NM, Wozniak E, Todd JA, Simpson MA, Plagnol V, van Heel DA Nature, 498(7453), 232, 2013 |
| 6 |
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis Sawcer S, Hellenthal G, Pirinen M, Spencer CCA, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F, Jayakumar A, Martin R, Leslie S, Hawkins S, Giannoulatou E, D'alfonso S, Blackburn H, Boneschi FM, Liddle J, Harbo HF, Perez ML, Spurkland A, Waller MJ, Mycko MP, Ricketts M, Comabella M, Hammond N, Kockum I, McCann OT, Ban M, Whittaker P, Kemppinen A, Weston P, Hawkins C, Widaa S, Zajicek J, Dronov S, Robertson N, Bumpstead SJ, Barcellos LF, Ravindrarajah R, Abraham R, Alfredsson L, Ardlie K, Aubin C, Baker A, Baker K, Baranzini SE, Bergamaschi L, Bergamaschi R, Bernstein A, Berthele A, Boggild M, Bradfield JP, Brassat D, Broadley SA, Buck D, Butzkueven H, Capra R, Carroll WM, Cavalla P, Celius EG, Cepok S, Chiavacci R, Clerget-Darpoux F, Clysters K, Comi G, Cossburn M, Cournu-Rebeix I, Cox MB, Cozen W, Cree BAC, Cross AH, Cusi D, Daly MJ, Davis E, de Bakker PIW, Debouverie M, D'hooghe MB, Dixon K, Dobosi R, Dubois B, Ellinghaus D, Elovaara I, Esposito F, Fontenille C, Foote S, Franke A, Galimberti D, Ghezzi A, Glessner J, Gomez R, Gout O, Graham C, Grant SFA, Guerini FR, Hakonarson H, Hall P, Hamsten A, Hartung HP, Heard RN, Heath S, Hobart J, Hoshi M, Infante-Duarte C, Ingram G, Ingram W, Islam T, Jagodic M, Kabesch M, Kermode AG, Kilpatrick TJ, Kim C, Klopp N, Koivisto K, Larsson M, Lathrop M, Lechner-Scott JS, Leone MA, Leppa V, Liljedahl U, Bomfim IL, Lincoln RR, Link J, Liu JJ, Lorentzen AR, Lupoli S, Macciardi F, Mack T, Marriott M, Martinelli V, Mason D, McCauley JL, Mentch F, Mero IL, Mihalova T, Montalban X, Mottershead J, Myhr KM, Naldi P, Ollier W, Page A, Palotie A, Pelletier J, Piccio L, Pickersgill T, Piehl F, Pobywajlo S, Quach HL, Ramsay PP, Reunanen M, Reynolds R, Rioux J, Rodegher M, Roesner S, Rubio JP, Ruckert IM, Salvetti M, Salvi E, Santaniello A, Schaefer CA, Schreiber S, Schulze C, Scott RJ, Sellebjerg F, Selmaj KW, Sexton D, Shen L, Simms-Acuna B, Skidmore S, Sleiman PMA, Smestad C, Sorensen PS, Sondergaard HB, Stankovich J, Strange RC, Sulonen AM, Sundqvist E, Syvanen AC, Taddeo F, Taylor B, Blackwell JM, Tienari P, Bramon E, Tourbah A, Brown MA, Tronczynska E, Casas JP, Tubridy N, Corvin A, Vickery J, Jankowski J, Villoslada P, Markus HS, Wang K, Mathew CG, Wason J, Palmer CNA, Wichmann HE, Plomin R, Willoughby E, Rautanen A, Winkelmann J, Wittig M, Trembath RC, Yaouanq J, Viswanathan AC, Zhang HT, Wood NW, Zuvich R, Deloukas P, Langford C, Duncanson A, Oksenberg JR, Pericak-Vance MA, Haines JL, Olsson T, Hillert J, Ivinson AJ, De Jager PL, Peltonen L, Stewart GJ, Hafler DA, Hauser SL, McVean G, Donnelly P, Compston A Nature, 476(7359), 214, 2011 |