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Page 1
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: benet pages a. Nucleic Acids Res. 2023 Jan 6;51(D1):D1188-D1195. doi: 10.1093/nar/gkac1072. Nucleic Acids Res. 2023. PMID: 36420891 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: benet pages a. Nucleic Acids Res. 2024 Jan 5;52(D1):D1082-D1088. doi: 10.1093/nar/gkad987. Nucleic Acids Res. 2024. PMID: 37953330 Free PMC article.
Quality assurance within the context of genome diagnostics (a german perspective).
Florian K, Benet-Pagès A, Berner D, Teubert A, Eck S, Arnold N, Bauer P, Begemann M, Sturm M, Kleinle S, B Haack T, Eggermann T. Florian K, et al. Among authors: benet pages a. Med Genet. 2023 Jun 13;35(2):91-104. doi: 10.1515/medgen-2023-2028. eCollection 2023 Jun. Med Genet. 2023. PMID: 38840862 Free PMC article.
The UCSC Genome Browser database: 2025 update.
Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. Perez G, et al. Among authors: benet pages a. Nucleic Acids Res. 2024 Oct 26:gkae974. doi: 10.1093/nar/gkae974. Online ahead of print. Nucleic Acids Res. 2024. PMID: 39460617
Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.
Barseghyan H, Eisenreich D, Lindt E, Wendlandt M, Scharf F, Benet-Pages A, Sendelbach K, Neuhann T, Abicht A, Holinski-Feder E, Koehler U. Barseghyan H, et al. Among authors: benet pages a. Genes (Basel). 2024 Mar 7;15(3):342. doi: 10.3390/genes15030342. Genes (Basel). 2024. PMID: 38540401 Free PMC article.
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Kleinle S, Scholz V, Benet-Pagés A, Wohlfrom T, Gehling S, Scharf F, Rost S, Prott EC, Grinzinger S, Hotter A, Haug V, Niemeier S, Wiethoff-Ubrig L, Hagenacker T, Goldhahn K, von Moers A, Walter MC, Reilich P, Eggermann K, Kraft F, Kurth I, Erdmann H, Holinski-Feder E, Neuhann T, Abicht A. Kleinle S, et al. Among authors: benet pages a. J Neuromuscul Dis. 2023;10(5):835-846. doi: 10.3233/JND-221668. J Neuromuscul Dis. 2023. PMID: 37424474 Free PMC article.
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Erdmann H, Scharf F, Gehling S, Benet-Pagès A, Jakubiczka S, Becker K, Seipelt M, Kleefeld F, Knop KC, Prott EC, Hiebeler M, Montagnese F, Gläser D, Vorgerd M, Hagenacker T, Walter MC, Reilich P, Neuhann T, Zenker M, Holinski-Feder E, Schoser B, Abicht A. Erdmann H, et al. Among authors: benet pages a. Brain. 2023 Apr 19;146(4):1388-1402. doi: 10.1093/brain/awac336. Brain. 2023. PMID: 36100962
Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients.
Hallermayr A, Wohlfrom T, Steinke-Lange V, Benet-Pagès A, Scharf F, Heitzer E, Mansmann U, Haberl C, de Wit M, Vogelsang H, Rentsch M, Holinski-Feder E, Pickl JMA. Hallermayr A, et al. Among authors: benet pages a. J Hematol Oncol. 2022 Sep 2;15(1):125. doi: 10.1186/s13045-022-01342-z. J Hematol Oncol. 2022. PMID: 36056434 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. 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: benet pages a. Nucleic Acids Res. 2022 Jan 7;50(D1):D1115-D1122. doi: 10.1093/nar/gkab959. Nucleic Acids Res. 2022. PMID: 34718705 Free PMC article.
38 results