Publications by authors named "Anna Benet-Pages"

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Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics.
Mayra Sauer, Morghan C Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch

Int J Cancer· December 2025

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The UCSC Genome Browser database: 2026 update.
Jonathan Casper, Matthew L Speir, Brian J Raney, Gerardo Perez, Luis R Nassar, Anna Benet-Pages

Nucleic Acids Res· November 2025

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Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.
Hannes Erdmann, Annalisa Schaub, Morghan C Lucas, Veronika Scholz, Anna Benet-Pages

Brain· September 2025

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The UCSC Genome Browser database: 2025 update.
Gerardo Perez, Galt P Barber, Anna Benet-Pages, Jonathan Casper, Hiram Clawson

Nucleic Acids Res· January 2025

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Reclassification of VUS in and using the new / ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.
Anna Benet-Pagès, Andreas Laner, Luis R Nassar, Tobias Wohlfrom, Verena Steinke-Lange

Genet Med Open· January 2025

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Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.
Hayk Barseghyan, Doris Eisenreich, Evgenia Lindt, Martin Wendlandt, Florentine Scharf, Anna Benet-Pages

Genes (Basel)· March 2024

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The UCSC Genome Browser database: 2024 update.
Brian J Raney, Galt P Barber, Anna Benet-Pagès, Jonathan Casper, Hiram Clawson

Nucleic Acids Res· January 2024

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Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Stephanie Kleinle, Veronika Scholz, Anna Benet-Pagés, Tobias Wohlfrom, Stefanie Gehling

J Neuromuscul Dis· September 2023

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Quality assurance within the context of genome diagnostics (a german perspective).
Kraft Florian, Anna Benet-Pagès, Daniel Berner, Anna Teubert, Sebastian Eck

Med Genet· June 2023

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Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Hannes Erdmann, Florentine Scharf, Stefanie Gehling, Anna Benet-Pagès, Sibylle Jakubiczka

Brain· April 2023

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The UCSC Genome Browser database: 2023 update.
Luis R Nassar, Galt P Barber, Anna Benet-Pagès, Jonathan Casper, Hiram Clawson

Nucleic Acids Res· January 2023

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Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients.
Ariane Hallermayr, Tobias Wohlfrom, Verena Steinke-Lange, Anna Benet-Pagès, Florentine Scharf

J Hematol Oncol· September 2022

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Variant interpretation: UCSC Genome Browser Recommended Track Sets.
Anna Benet-Pagès, Kate R Rosenbloom, Luis R Nassar, Christopher M Lee, Brian J Raney

Hum Mutat· August 2022

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The UCSC Genome Browser database: 2022 update.
Brian T Lee, Galt P Barber, Anna Benet-Pagès, Jonathan Casper, Hiram Clawson

Nucleic Acids Res· January 2022

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Liquid Biopsy Hotspot Variant Assays: Analytical Validation for Application in Residual Disease Detection and Treatment Monitoring.
Ariane Hallermayr, Anna Benet-Pagès, Verena Steinke-Lange, Ulrich Mansmann, Markus Rentsch

Clin Chem· November 2021

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HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.
Ulrike Schön, Anna Holzer, Andreas Laner, Stephanie Kleinle, Florentine Scharf

BMC Med Genomics· March 2021

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The UCSC Genome Browser database: 2021 update.
Jairo Navarro Gonzalez, Ann S Zweig, Matthew L Speir, Daniel Schmelter, Kate R Rosenbloom

Nucleic Acids Res· January 2021

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Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome.
Anke Marie Arnold, Monika Morak, Anna Benet-Pagès, Andreas Laner, Dimitrij Frishman

Eur J Hum Genet· May 2020

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Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.
Isabel Diebold, Ulrike Schön, Florentine Scharf, Anna Benet-Pagès, Andreas Laner

Hum Mutat· May 2020

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Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics.
Monika Morak, Verena Steinke-Lange, Trisari Massdorf, Anna Benet-Pages, Melanie Locher

Fam Cancer· April 2020

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Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.
Angela Abicht, Florentine Scharf, Stephanie Kleinle, Ulrike Schön, Elke Holinski-Feder

Mol Genet Genomic Med· November 2018

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Extending the critical regions for mutations in the non-coding gene in another patient with Roifman Syndrome.
Ariane Hallermayr, Janine Graf, Udo Koehler, Andreas Laner, Brigitte Schönfeld

Clin Case Rep· November 2018

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Comprehensive analysis of the promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional epimutation.
Monika Morak, Ayseguel Ibisler, Gisela Keller, Ellen Jessen, Andreas Laner

J Med Genet· April 2018

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Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.
Monika Morak, Sarah Käsbauer, Martina Kerscher, Andreas Laner, Anke M Nissen

Fam Cancer· October 2017

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Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
Andreas Rump, Anna Benet-Pages, Steffen Schubert, Jan Dominik Kuhlmann, Ramūnas Janavičius

PLoS Genet· August 2016

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