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Human Molecular Genetics|December 14, 2004
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemiaAnna Benet-Pagès, Peter Orlik, Tim M Strom, et al.
European Journal of Human Genetics : EJHG|March 11, 2026
Validation structures for sequence variants of uncertain significance in hereditary cancerMorghan C Lucas, Thomas Keßler, Anna Benet-Pagès, et al.
European Journal of Human Genetics : EJHG|December 12, 2019
Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndromeAnke Marie Arnold, Monika Morak, Anna Benet-Pagès, et al.
Genome Biology|August 8, 2009
Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discoverySebastian H Eck, Anna Benet-Pagès, Krzysztof Flisikowski, et al.
Clinical Case Reports|November 21, 2018
Extending the critical regions for mutations in the non-coding gene <i>RNU4ATAC</i> in another patient with Roifman SyndromeAriane Hallermayr, Janine Graf, Udo Koehler, et al.
Human Mutation|February 13, 2020
Critical assessment of secondary findings in genes linked to primary arrhythmia syndromesIsabel Diebold, Ulrike Schön, Florentine Scharf, et al.
Bone|July 23, 2004
FGF23 is processed by proprotein convertases but not by PHEXAnna Benet-Pagès, Bettina Lorenz-Depiereux, Hans Zischka, et al.
Molecular Genetics & Genomic Medicine|November 9, 2018
Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based methodAngela Abicht, Florentine Scharf, Stephanie Kleinle, et al.
Genetics in Medicine Open|March 3, 2025
Reclassification of VUS in <i>BRCA1</i> and <i>BRCA2</i> using the new <i>BRCA1</i>/<i>BRCA2</i> ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification systemAnna Benet-Pagès, Andreas Laner, Luis R Nassar, et al.
Clinical Chemistry|August 15, 2021
Liquid Biopsy Hotspot Variant Assays: Analytical Validation for Application in Residual Disease Detection and Treatment MonitoringAriane Hallermayr, Anna Benet-Pagès, Verena Steinke-Lange, et al.
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