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Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk2021 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Rick A.C.M. Boonen, Wouter W. Wiegant, Nandi Celosse, Bas Vroling, Stephan Heijl, Zsofia Kote‐Jarai, +10 more
58citations -
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder2021 Annals of Clinical and Translational Neurology article Neuroscience Genetic Neurodegenerative Diseases Open access
Tanja Schmitz‐Hübsch, Silke Lux, Peter Bauer, Alexander Ulrich Brandt, Elena Schlapakow, Susanne Greschus, +22 more
21citations -
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
2citations -
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
0citations -
Saturation genome editing of BAP1 functionally classifies somatic and germline variants2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrew J. Waters, Timothy Brendler-Spaeth, Danielle Smith, Victoria Offord, Hong Kee Tan, Yajie Zhao, +15 more
58citations -
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Molly Godfrey, Michael A. Levy, Christopher Campbell, Leigh A. M. Demain, Sarah Hilton, Berta Almoguera, +34 more
0citations -
Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance2025 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Maria Zanti, Fonnet E. Bleeker, Marinus J. Blok, Merel E. Braspenning, Marta Černá, +16 more
1citations -
A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA22023 Human Mutation article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Hongyan Li, Joe Dennis, Kristiina Aittomäkkiki, +93 more
8citations -
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies2022 eLife article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornelis L. Harteveld, Celeste Bento, +10 more
15citations -
Significance of incidental copy number variants in the Duchenne muscular dystrophy gene2025 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ieke B. Ginjaar, Marjolein Kriek, Mariëtte J.V. Hoffer, Renske Oegema, Ellen van Binsbergen, Karin E. M. Diderich, +7 more
1citations -
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity2021 Journal of Allergy and Clinical Immunology article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Matthias Haimel, Júlia Pázmándi, Raúl Jiménez Heredia, Jasmin Dmytrus, Sevgi Köstel Bal, Samaneh Zoghi, +32 more
33citations -
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J.M. Dingemans, Dmitrijs Rots, +44 more
31citations -
Minigene‐based splicing analysis and ACMG / AMP ‐based tentative classification of 56 ATM variants2022 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Elena Bueno Martínez, Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, +9 more
23citations -
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J.M. Dingemans, Dmitrijs Rots, +46 more
0citations -
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome2020 Genetics in Medicine article Medicine Genetic factors in colorectal cancer Open access cited by 2 patents
Mark Drost, Yvonne Tiersma, Dylan M. Glubb, Scott D. Kathe, Sandrine van Hees, Fabienne M.G.R. Calléja, +10 more
27citations -
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants2023 Clinical Chemistry article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, +8 more
14citations -
Abstract 7325: Integration of functional data to classify BRCA1/2 missense variants: An ENIGMA project2024 Cancer Research conference-abstract Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Paulo Cilas Morais Lyra Junior, Lucas Dalcolmo, Michael T. Parsons, Thales C. Nepomuceno, Samuel Gomes Brito, Nam Phuong N. Nguyen, +26 more
1citations -
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
30citations