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Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
David Cheerie, Margaret M. Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, +33 more
31citations -
ACO2 clinicobiological dataset with extensive phenotype ontology annotation2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati‐Bonneau, Majida Charif, Estelle Colin, Céline Bris, +9 more
8citations -
Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation2020 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Álvaro N.A. Monteiro, Arne Nedergaard Kousholt, Diana Eccles, Gaël A. Millot, Jean‐Yves Masson, Marjanka K. Schmidt, +5 more
48citations -
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael A. Levy, Alexander J.M. Dingemans, Bert B A De Vries, +84 more
23citations -
The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a “virtual patient”2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Danya F. Vears, Martin Elferink, Marjolein Kriek, Pascal Borry, Koen L.I. van Gassen
3citations -
Analysis of laboratory reporting practices using a quality assessment of a 'virtual patient'. (data)2020 Zenodo (CERN European Organization for Nuclear Research) dataset Medicine Clinical Laboratory Practices and Quality Control Open access
Martin Elferink, Danya F. Vears, Marjolein Kriek, Pascal Borry, Koen L.I. van Gassen
0citations -
31. A cross-consortia initiative for aligning the definitions and descriptions of gene fusions2024 Cancer Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Alex Handler Wagner, Reece K. Hart, Johan T. den Dunnen, Elspeth A. Bruford, Ros J. Hastings, Marina T. DiStefano, +2 more
0citations -
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium2026 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Joanna Domènech-Vivó, Hélène Tubeuf, Romy L.S. Mesman, Aurélie Drouet, Melanie Girardi, María Concepción Alonso‐Cerezo, +27 more
0citations -
Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen2021 Monatsschrift Kinderheilkunde article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Tasja Scholz, Andreas Dufke, Tobias B. Haack, Miriam Elbracht, Thomas Eggermann, Cristiana Roggia, +3 more
0citations -
1886. External Validation of the 4C Mortality Score and the qSOFA for Different Variants of Concerns of SARS-CoV-2 Using Data of the NAPKON Cross-Sectoral Cohort Platform (SUEP)
Katharina S. Appel, Daniel Maier, Sina Marie Hopff, Lazar Mitrov, Melanie Stecher, Margarete Scherer, +39 more
0citations -
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +25 more
6citations -
Splicing predictions, minigene analyses, and ACMG ‐ AMP clinical classification of 42 germline PALB2 splice‐site variants2021 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Lara Sanoguera‐Miralles, Víctor Lorca, Eugenia Fraile‐Bethencourt, Ada Esteban‐Sánchez, +10 more
24citations -
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants2021 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Elena Bueno Martínez, Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Víctor Lorca, Alicia Gómez-Sanz, Jamie Allen, +8 more
22citations -
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools2025 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Mark Drost, Jordy Dekker, Federico Ferraro, Esmee Kasteleijn, Hannie Douben, Leontine van Unen, +42 more
7citations -
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach2022 Human Mutation article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mads Thomassen, Romy L.S. Mesman, Thomas van Overeem Hansen, Mireia Menéndez, Maria Rossing, Ada Esteban‐Sánchez, +43 more
9citations