검색결과 : 34건
| No. | Article |
|---|---|
| 1 |
Evidence for 28 genetic disorders discovered by combining healthcare and research data Kaplanis J, Samocha KE, Wiel L, Zhang ZC, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K Nature, 586(7831), 757, 2020 |
| 2 |
Evidence for 28 genetic disorders discovered by combining healthcare and research data Kaplanis J, Samocha KE, Wiel L, Zhang ZC, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K Nature, 586(7831), 757, 2020 |
| 3 |
Evidence for 28 genetic disorders discovered by combining healthcare and research data Kaplanis J, Samocha KE, Wiel L, Zhang ZC, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K Nature, 586(7831), 757, 2020 |
| 4 |
De novo mutations in regulatory elements in neurodevelopmental disorders Short PJ, Mcrae JF, Gallone G, Sifrim A, Won H, Geschwind DH, Wright CF, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME Nature, 555(7698), 611, 2018 |
| 5 |
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders Niemi MEK, Martin HC, Rice DL, Gallon G, Gordon S, Kelemen M, McAloney K, McRae J, Radford EJ, Yu S, Gecz J, Martin NG, Wright CF, Fitzpatrick DR, Firth HV, Hurles ME, Barrett JC Nature, 562(7726), 268, 2018 |
| 6 |
Quantifying the contribution of recessive coding variation to developmental disorders Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akavvi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC Science, 362(6419), 1161, 2018 |
| 7 |
Prevalence and architecture of de novo mutations in developmental disorders Mcrae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M, Ambridge K, Barrett DM, Bayzetinova T, Jones P, Jones WD, King D, Krishnappa N, Mason LE, Singh T, Tivey AR, Ahmed M, Anjum U, Archer H, Armstrong R, Awada J, Balasubramanian M, Banka S, Baralle D, Barnicoat A, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Bitner-Glindzicz M, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Bradley L, Brady A, Brent S, Brewer C, Brunstrom K, Bunyan DJ, Burn J, Canham N, Castle B, Chandler K, Chatzimichali E, Cilliers D, Clarke A, Clasper S, Clayton-Smith J, Clowes V, Coates A, Cole T, Colgiu I, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro M, Dabir T, Davidson R, Davies S, de Vries D, Dean J, Deshpande C, Devlin G, Dixit A, Dobbie A, Donaldson A, Donnai D, Donnelly D, Donnelly C, Douglas A, Douzgou S, Duncan A, Eason J, Ellard S, Ellis I, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fry A, Fryer A, Gardiner C, Gaunt L, Ghali N, Gibbons R, Gill H, Goodship J, Goudie D, Gray E, Green A, Greene P, Greenhalgh L, Gribble S, Harrison R, Harrison L, Harrison V, Hawkins R, He L, Hellens S, Henderson A, Hewitt S, Hildyard L, Hobson E, Holden S, Holder M, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Hutton B, Ingram S, Irving M, Islam L, Jackson A, Jarvis J, Jenkins L, Johnson D, Jones E, Josifova D, Joss S, Kaemba B, Kazembe S, Kelsell R, Kerr B, Kingston H, Kini U, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Kumar VKA, Lachlan K, Lam W, Lampe A, Langman C, Lees M, Lim D, Longman C, Lowther G, Lynch SA, Magee A, Maher E, Male A, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McKee S, McMullan DJ, McNerlan S, McWilliam C, Mehta S, Metcalfe K, Middleton A, Miedzybrodzka Z, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morton J, Mugalaasi H, Murday V, Murphy H, Naik S, Nemeth A, Nevitt L, Newbury-Ecob R, Norman A, O'Shea R, Ogilvie C, Ong KR, Park SM, Parker MJ, Patel C, Paterson J, Payne S, Perrett D, Phipps J, Pilz DT, Pollard M, Pottinger C, Poulton J, Pratt N, Prescott K, Price S, Pridham A, Procter A, Purnell H, Quarrell O, Ragge N, Rahbari R, Randall J, Rankin J, Raymond L, Rice D, Robert L, Roberts E, Roberts J, Roberts P, Roberts G, Ross A, Rosser E, Saggar A, Samant S, Sampson J, Sandford R, Sarkar A, Schweiger S, Scott R, Scurr I, Selby A, Seller A, Sequeira C, Shannon N, Sharif S, Shaw-Smith C, Shearing E, Shears D, Sheridan E, Simonic I, Singzon R, Skitt Z, Smith A, Smith K, Smithson S, Sneddon L, Splitt M, Squires M, Stewart F, Stewart H, Straub V, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tein M, Temple K, Thomson J, Tischkowitz M, Tomkins S, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Varghese V, Vasudevan P, Vijayarangakannan P, Vogt J, Wakeling E, Wallwark S, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Wilkinson E, Williams D, Williams N, Wilson L, Woods G, Wragg C, Wright M, Yates L, Yau M, Nellaker C, Parker M, Firth HV, Wright CF, FitzPatrick DR, Barrett JC, Hurles ME Nature, 542(7642), 433, 2017 |
| 8 |
Fine-mapping inflammatory bowel disease loci to single-variant resolution Huang HL, Fang M, Ostins LJ, Mirkov MU, Boucher G, Anderson CA, Andersen V, Leynen IC, Cortes A, Crins F, D'Amato M, Deffontaine V, Dmitrieva J, Docampo E, Elansary M, Farh KKH, Franke A, Gori AS, Goyette P, Halfvarson J, Haritunians T, Knight J, Lawrance IC, Lees CW, Louis E, Mariman R, Meuwissen T, Mni M, Momozawa Y, Parkes M, Spain SL, Theatre E, Trynka G, Satsangi J, van Sommeren S, Vermeire S, Xavier RJ, Weersma RK, Duerr RH, Mathew CG, Rioux JD, McGovern DPB, Cho JH, Georges M, Daly MJ, Barrett JC Nature, 547(7662), 173, 2017 |
| 9 |
Large-scale discovery of novel genetic causes of developmental disorders Fitzgerald TW, Gerety SS, Jones WD, van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, Barrett DM, Bayzetinova T, Clayton S, Coomber EL, Gribble S, Jones P, Krishnappa N, Mason LE, Middleton A, Miller R, Prigmore E, Rajan D, Sifrim A, Tivey AR, Ahmed M, Akawi N, Andrews R, Anjum U, Archer H, Armstrong R, Balasubramanian M, Banerjee R, Baralle D, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Brady A, Bragin E, Brewer C, Brueton L, Brunstrom K, Bumpstead SJ, Bunyan DJ, Burn J, Burton J, Canham N, Castle B, Chandler K, Clasper S, Clayton-Smith J, Cole T, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro M, Dabir T, Davidson R, Davies S, Dean J, Deshpande C, Devlin G, Dixit A, Dominiczak A, Donnelly C, Donnelly D, Douglas A, Duncan A, Eason J, Edkins S, Ellard S, Ellis P, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fryer A, Fu B, Gardiner C, Gaunt L, Ghali N, Gibbons R, Pereira SLG, Goodship J, Goudie D, Gray E, Greene P, Greenhalgh L, Harrison L, Hawkins R, Hellens S, Henderson A, Hobson E, Holden S, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Ingram S, Irving M, Jarvis J, Jenkins L, Johnson D, Jones D, Jones E, Josifova D, Joss S, Kaemba B, Kazembe S, Kerr B, Kini U, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Lachlan K, Lam W, Lampe A, Langman C, Lees M, Lim D, Lowther G, Lynch SA, Magee A, Maher E, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McKee S, McMullan DJ, McNerlan S, Mehta S, Metcalfe K, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morris A, Morton J, Mugalaasi H, Murday V, Nevitt L, Newbury-Ecob R, Norman A, O'Shea R, Ogilvie C, Park S, Parker MJ, Patel C, Paterson J, Payne S, Phipps J, Pilz DT, Porteous D, Pratt N, Prescott K, Price S, Pridham A, Procter A, Purnell H, Ragge N, Rankin J, Raymond L, Rice D, Robert L, Roberts E, Roberts G, Roberts J, Roberts P, Ross A, Rosser E, Saggar A, Samant S, Sandford R, Sarkar A, Schweier S, Scott C, Scott R, Selby A, Seller A, Sequeira C, Shannon N, Shanrif S, Shaw-Smith C, Shearing E, Shears D, Simonic I, Simpkin D, Singzon R, Skitt Z, Smith A, Smith B, Smith K, Smithson S, Sneddon L, Splitt M, Squires M, Stewart F, Stewart H, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tei M, Temple IK, Thomson J, Tolmie J, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Vasudevan P, Vogt J, Wakeling E, Walker D, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Williams D, Williams N, Woods G, Wragg C, Wright M, Yang F, Yau M, Carter NP, Parker M, Firth HV, FitzPatrick DR, Wright CF, Barrett JC, Hurles ME Nature, 519(7542), 223, 2015 |
| 10 |
The UK10K project identifies rare variants in health and disease Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JRB, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CMT, Timpson NJ, Durbin R, Soranzo N, Bala S, Clapham P, Coates G, Cox T, Daly A, Danecek P, Du Y, Durbin R, Edkins S, Ellis P, Flicek P, Guo X, Guo X, Huang L, Jackson DK, Joyce C, Keane T, Kolb-Kokocinski A, Langford C, Li Y, Liang J, Lin H, Liu R, Maslen J, McCarthy S, Muddyman D, Quail MA, Stalker J, Sun J, Tian J, Wang G, Wang J, Wang Y, Wong K, Zhang P, Barroso I, Birney E, Boustred C, Chen L, Clement G, Cocca M, Danecek P, Smith GD, Day INM, Day-Williams A, Down T, Dunham I, Durbin R, Evans DM, Gaunt TR, Geihs M, Greenwood CMT, Hart D, Hendricks AE, Howie B, Huang J, Hubbard T, Hysi P, Iotchkova V, Jamshidi Y, Karczewski KJ, Kemp JP, Lachance G, Lawson D, Lek M, Lopes M, MacArthur DG, Marchini J, Mangino M, Mathieson I, McCarthy S, Memari Y, Metrustry S, Min JL, Moayyeri A, Muddyman D, Northstone K, Panoutsopoulou K, Paternoster L, Perry JRB, Quaye L, Richards JB, Ring S, Ritchie GRS, Schiffels S, Shihab HA, Shin SY, Small KS, Artigas MS, Soranzo N, Southam L, Spector TD, St Pourcain B, Surdulescu G, Tachmazidou I, Timpson NJ, Tobin MD, Valdes AM, Visscher PM, Wain LV, Walter K, Ward K, Wilson SG, Wong K, Yang J, Zeggini E, Zhang F, Zheng HF, Anney R, Ayub M, Barrett JC, Blackwood D, Bolton PF, Breen G, Collier DA, Craddock N, Crooks L, Curran S, Curtis D, Durbin R, Gallagher L, Geschwind D, Gurling H, Holmans P, Lee I, Lonnqvist J, McCarthy S, McGuffin P, McIntosh AM, McKechanie AG, McQuillin A, Morris J, Muddyman D, O'Donovan MC, Owen MJ, Palotie A, Parr JR, Paunio T, Pietilainen O, Rehnstrom K, Sharp SI, Skuse D, St Clair D, Suvisaari J, Walters JTR, Williams HJ, Barroso I, Bochukova E, Bounds R, Dominiczak A, Durbin R, Farooqi IS, Hendricks AE, Keogh J, Marenne GL, McCarthy S, Morris A, Muddyman D, O'Rahilly S, Porteous DJ, Smith BH, Tachmazidou I, Wheeler E, Zeggini E, Al Turki S, Anderson CA, Antony D, Barroso IS, Beales P, Bentham J, Bhattacharya S, Calissano M, Carss K, Chatterjee K, Cirak S, Cosgrove C, Durbin R, Fitzpatrick DR, Floyd J, Foley AR, Franklin CS, Futema M, Grozeva D, Humphries SE, Hurles ME, McCarthy S, Mitchison HM, Muddyman D, Muntoni F, O'Rahilly S, Onoufriadis A, Parker V, Payne F, Plagnol V, Raymond FL, Roberts N, Savage DB, Scambler P, Schmidts M, Schoenmakers N, Semple RK, Serra E, Spasic-Boskovic O, Stevens E, van Kogelenberg M, Vijayarangakannan P, Walter K, Williamson KA, Wilson C, Whyte T, Ciampi A, Greenwood CMT, Hendricks AE, Li R, Metrustry S, Oualkacha K, Tachmazidou I, Xu CJ, Zeggini E, Bobrow M, Bolton PF, Durbin R, Fitzpatrick DR, Griffin H, Hurles ME, Kaye J, Kennedy K, Kent A, Muddyman D, Muntoni F, Raymond FL, Semple RK, Smee C, Spector TD, Timpson NJ, Charlton R, Ekong R, Futema M, Humphries SE, Khawaja F, Lopes LR, Migone N, Payne SJ, Plagnol V, Pollitt RC, Povey S, Ridout CK, Robinson RL, Scott RH, Shaw A, Syrris P, Taylor R, Vandersteen AM, Barrett JC, Barroso I, Smith GD, Durbin R, Farooqi IS, Fitzpatrick DR, Hurles ME, Kaye J, Kennedy K, Langford C, McCarthy S, Muddyman D, Owen MJ, Palotie A, Richards JB, Soranzo N, Spector TD, Stalker J, Timpson NJ, Zeggini E, Amuzu A, Casas JP, Chambers JC, Cocca M, Dedoussis G, Gambaro G, Gasparini P, Gaunt TR, Huang J, Iotchkova V, Isaacs A, Johnson J, Kleber ME, Kooner JS, Langenberg C, Luan J, Malerba G, Marz W, Matchan A, Min JL, Morris R, Nordestgaard BG, Benn M, Ring S, Scott RA, Soranzo N, Southam L, Timpson NJ, Toniolo D, Traglia M, Tybjaerg-Hansen A, van Duijn CM, van Leeuwen EM, Varbo A, Whincup P, Zaza G, Zeggini E, Zhang WH Nature, 526(7571), 82, 2015 |