검색결과 : 7건
| 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 |
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 |
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 |
| 5 |
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 |
| 6 |
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 |
| 7 |
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 |