검색결과 : 4건
| No. | Article |
|---|---|
| 1 |
A brief history of human disease genetics Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI Nature, 577(7789), 179, 2020 |
| 2 |
Building the foundation for genomics in precision medicine Aronson SJ, Rehm HL Nature, 526(7573), 336, 2015 |
| 3 |
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 |
| 4 |
Mutation of a gene encoding a protein with extracellular matrix motifs in usher syndrome type IIa Eudy JD, Weston MD, Yao SF, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J Science, 280(5370), 1753, 1998 |