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IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Chekuri A, Guru AA, Biswas P, Branham K, Borooah S, Soto-Hermida A, Hicks M, Khan NW, Matsui H, Alapati A, Raghavendra PB, Roosing S, Sarangapani S, Mathavan S, Telenti A, Heckenlively JR, Riazuddin SA, Frazer KA, Sieving PA, Ayyagari R. Chekuri A, et al. Among authors: hicks m. Hum Genet. 2018 Jul;137(6-7):447-458. doi: 10.1007/s00439-018-1897-9. Epub 2018 Jul 5. Hum Genet. 2018. PMID: 29978320 Free PMC article.
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.
Branham K, Matsui H, Biswas P, Guru AA, Hicks M, Suk JJ, Li H, Jakubosky D, Long T, Telenti A, Nariai N, Heckenlively JR, Frazer KA, Sieving PA, Ayyagari R. Branham K, et al. Among authors: hicks m. Physiol Genomics. 2016 Dec 1;48(12):922-927. doi: 10.1152/physiolgenomics.00101.2016. Epub 2016 Oct 7. Physiol Genomics. 2016. PMID: 27764769 Free PMC article.
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.
Long T, Hicks M, Yu HC, Biggs WH, Kirkness EF, Menni C, Zierer J, Small KS, Mangino M, Messier H, Brewerton S, Turpaz Y, Perkins BA, Evans AM, Miller LA, Guo L, Caskey CT, Schork NJ, Garner C, Spector TD, Venter JC, Telenti A. Long T, et al. Among authors: hicks m. Nat Genet. 2017 Apr;49(4):568-578. doi: 10.1038/ng.3809. Epub 2017 Mar 6. Nat Genet. 2017. PMID: 28263315
The human noncoding genome defined by genetic diversity.
di Iulio J, Bartha I, Wong EHM, Yu HC, Lavrenko V, Yang D, Jung I, Hicks MA, Shah N, Kirkness EF, Fabani MM, Biggs WH, Ren B, Venter JC, Telenti A. di Iulio J, et al. Among authors: hicks ma. Nat Genet. 2018 Mar;50(3):333-337. doi: 10.1038/s41588-018-0062-7. Epub 2018 Feb 26. Nat Genet. 2018. PMID: 29483654
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC, Yu HC, Martin R, Cirulli ET, Schenker-Ahmed NM, Hicks M, Cohen IV, Jönsson TJ, Heister R, Napier L, Swisher CL, Dominguez S, Tang H, Li W, Perkins BA, Barea J, Rybak C, Smith E, Duchicela K, Doney M, Brar P, Hernandez N, Kirkness EF, Kahn AM, Venter JC, Karow DS, Caskey CT. Hou YC, et al. Among authors: hicks m. Proc Natl Acad Sci U S A. 2020 Feb 11;117(6):3053-3062. doi: 10.1073/pnas.1909378117. Epub 2020 Jan 24. Proc Natl Acad Sci U S A. 2020. PMID: 31980526 Free PMC article.
Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework.
Glusman G, Rose PW, Prlić A, Dougherty J, Duarte JM, Hoffman AS, Barton GJ, Bendixen E, Bergquist T, Bock C, Brunk E, Buljan M, Burley SK, Cai B, Carter H, Gao J, Godzik A, Heuer M, Hicks M, Hrabe T, Karchin R, Leman JK, Lane L, Masica DL, Mooney SD, Moult J, Omenn GS, Pearl F, Pejaver V, Reynolds SM, Rokem A, Schwede T, Song S, Tilgner H, Valasatava Y, Zhang Y, Deutsch EW. Glusman G, et al. Among authors: hicks m. Genome Med. 2017 Dec 18;9(1):113. doi: 10.1186/s13073-017-0509-y. Genome Med. 2017. PMID: 29254494 Free PMC article. Review.
An unsupervised learning approach to identify novel signatures of health and disease from multimodal data.
Shomorony I, Cirulli ET, Huang L, Napier LA, Heister RR, Hicks M, Cohen IV, Yu HC, Swisher CL, Schenker-Ahmed NM, Li W, Nelson KE, Brar P, Kahn AM, Spector TD, Caskey CT, Venter JC, Karow DS, Kirkness EF, Shah N. Shomorony I, et al. Among authors: hicks m. Genome Med. 2020 Jan 10;12(1):7. doi: 10.1186/s13073-019-0705-z. Genome Med. 2020. PMID: 31924279 Free PMC article.
Target discovery using biobanks and human genetics.
Hicks MA, Hou CYC, Iranmehr A, Marosi K, Kirkness E. Hicks MA, et al. Drug Discov Today. 2020 Feb;25(2):438-445. doi: 10.1016/j.drudis.2019.09.014. Epub 2019 Sep 25. Drug Discov Today. 2020. PMID: 31562982 Review.
1,140 results