Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

36 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
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.
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.
36 results