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Towards an evidence-based process for the clinical interpretation of copy number variation.
Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, Kearney HM, Ledbetter DH, South ST, Thorland EC, Martin CL. Riggs ER, et al. Among authors: kuhn rm. Clin Genet. 2012 May;81(5):403-12. doi: 10.1111/j.1399-0004.2011.01818.x. Epub 2011 Dec 13. Clin Genet. 2012. PMID: 22097934 Free PMC article. Review.
Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.
Chee JM, Lanoue L, Clary D, Higgins K, Bower L, Flenniken A, Guo R, Adams DJ, Bosch F, Braun RE, Brown SDM, Chin HG, Dickinson ME, Hsu CW, Dobbie M, Gao X, Galande S, Grobler A, Heaney JD, Herault Y, de Angelis MH, Mammano F, Nutter LMJ, Parkinson H, Qin C, Shiroishi T, Sedlacek R, Seong JK, Xu Y; International Mouse Phenotyping Consortium; Brooks B, McKerlie C, Lloyd KCK, Westerberg H, Moshiri A. Chee JM, et al. BMC Biol. 2023 Feb 3;21(1):22. doi: 10.1186/s12915-022-01475-0. BMC Biol. 2023. PMID: 36737727 Free PMC article.
The UCSC Genome Browser database: 2024 update.
Raney BJ, Barber GP, Benet-Pagès A, Casper J, Clawson H, Cline MS, Diekhans M, Fischer C, Navarro Gonzalez J, Hickey G, Hinrichs AS, Kuhn RM, Lee BT, Lee CM, Le Mercier P, Miga KH, Nassar LR, Nejad P, Paten B, Perez G, Schmelter D, Speir ML, Wick BD, Zweig AS, Haussler D, Kent WJ, Haeussler M. Raney BJ, et al. Among authors: kuhn rm. Nucleic Acids Res. 2024 Jan 5;52(D1):D1082-D1088. doi: 10.1093/nar/gkad987. Nucleic Acids Res. 2024. PMID: 37953330 Free PMC article.
GenArk: towards a million UCSC genome browsers.
Clawson H, Lee BT, Raney BJ, Barber GP, Casper J, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Perez G, Wick B, Schmelter D, Speir ML, Armstrong J, Zweig AS, Kuhn RM, Kirilenko BM, Hiller M, Haussler D, Kent WJ, Haeussler M. Clawson H, et al. Among authors: kuhn rm. Genome Biol. 2023 Oct 2;24(1):217. doi: 10.1186/s13059-023-03057-x. Genome Biol. 2023. PMID: 37784172 Free PMC article.
GenArk: Towards a million UCSC Genome Browsers.
Clawson H, Lee BT, Raney BJ, Barber GP, Casper J, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Perez G, Wick B, Schmelter D, Speir ML, Armstrong J, Zweig AS, Kuhn RM, Kirilenko BM, Hiller M, Haussler D, Kent WJ, Haeussler M. Clawson H, et al. Among authors: kuhn rm. Res Sq [Preprint]. 2023 Apr 3:rs.3.rs-2697398. doi: 10.21203/rs.3.rs-2697398/v1. Res Sq. 2023. PMID: 37066427 Free PMC article. Updated. Preprint.
The UCSC Genome Browser database: 2023 update.
Nassar LR, Barber GP, Benet-Pagès A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee BT, Lee CM, Muthuraman P, Nguy B, Pereira T, Nejad P, Perez G, Raney BJ, Schmelter D, Speir ML, Wick BD, Zweig AS, Haussler D, Kuhn RM, Haeussler M, Kent WJ. Nassar LR, et al. Among authors: kuhn rm. Nucleic Acids Res. 2023 Jan 6;51(D1):D1188-D1195. doi: 10.1093/nar/gkac1072. Nucleic Acids Res. 2023. PMID: 36420891 Free PMC article.
Variant interpretation: UCSC Genome Browser Recommended Track Sets.
Benet-Pagès A, Rosenbloom KR, Nassar LR, Lee CM, Raney BJ, Clawson H, Schmelter D, Casper J, Gonzalez JN, Perez G, Lee BT, Zweig AS, Kent WJ, Haeussler M, Kuhn RM. Benet-Pagès A, et al. Among authors: kuhn rm. Hum Mutat. 2022 Aug;43(8):998-1011. doi: 10.1002/humu.24335. Epub 2022 Feb 7. Hum Mutat. 2022. PMID: 35088925 Free PMC article.
The UCSC Genome Browser database: 2022 update.
Lee BT, Barber GP, Benet-Pagès A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Muthuraman P, Nassar LR, Nguy B, Pereira T, Perez G, Raney BJ, Rosenbloom KR, Schmelter D, Speir ML, Wick BD, Zweig AS, Haussler D, Kuhn RM, Haeussler M, Kent WJ. Lee BT, et al. Among authors: kuhn rm. Nucleic Acids Res. 2022 Jan 7;50(D1):D1115-D1122. doi: 10.1093/nar/gkab959. Nucleic Acids Res. 2022. PMID: 34718705 Free PMC article.
64 results