검색결과 : 7건
| No. | Article |
|---|---|
| 1 |
Guidelines for investigating causality of sequence variants in human disease MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C Nature, 508(7497), 469, 2014 |
| 2 |
Novel somatic and germline mutations in intracranial germ cell tumours Wang LH, Yamaguchi S, Burstein MD, Terashima K, Chang K, Ng HK, Nakamura H, He ZX, Doddapaneni H, Lewis L, Wang M, Suzuki T, Nishikawa R, Natsume A, Terasaka S, Dauser R, Whitehead W, Adekunle A, Sun JY, Qiao Y, Marth G, Muzny DM, Gibbs RA, Leal SM, Wheeler DA, Lau CC Nature, 511(7508), 241, 2014 |
| 3 |
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants Fu WQ, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, Akey JM Nature, 493(7431), 216, 2013 |
| 4 |
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (vol 493, pg 216, 2013) Fu WQ, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Rieder MJ, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, Akey JM Nature, 495(7440), 270, 2013 |
| 5 |
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes Tennessen JA, Bigham AW, O'Connor TD, Fu WQ, Kenny EE, Gravel S, McGee S, Do R, Liu XM, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM Science, 337(6090), 64, 2012 |
| 6 |
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia Vacic V, McCarthy S, Malhotra D, Murray F, Chou HH, Peoples A, Makarov V, Yoon S, Bhandari A, Corominas R, Iakoucheva LM, Krastoshevsky O, Krause V, Larach-Walters V, Welsh DK, Craig D, Kelsoe JR, Gershon ES, Leal SM, Aquila MD, Morris DW, Gill M, Corvin A, Insel PA, McClellan J, King MC, Karayiorgou M, Levy DL, DeLisi LE, Sebat J Nature, 471(7339), 499, 2011 |
| 7 |
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia (vol 471, pg 499, 2011) Vacic V, McCarthy S, Malhotra D, Murray F, Chou HH, Peoples A, Makarov V, Yoon S, Bhandari A, Corominas R, Iakoucheva LM, Krastoshevsky O, Krause V, Larach-Walters V, Welsh DK, Craig D, Kelsoe JR, Gershon ES, Leal SM, Aquila MD, Morris DW, Gill M, Corvin A, Insel PA, McClellan J, King MC, Karayiorgou M, Levy DL, DeLisi LE, Sebat J Nature, 474(7349), 114, 2011 |