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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 -
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer2022 Hereditary Cancer in Clinical Practice article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Beverley Speight, Ellen Colvin, E. D. Epurescu, James Drummond, Senno Verhoef, Mariana Buongermino Pereira, +2 more
7citations -
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 -
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
1citations -
A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman, Anneke T. Vulto‐van Silfhout, Erica G. M. Boonen, Lara K. Holtes, +24 more
0citations -
Patient with an autosomal‐recessive MBTPS1 ‐linked phenotype and clinical features of Silver–Russell syndrome2020 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Robert Meyer, Miriam Elbracht, Thomas Opladen, Thomas Eggermann
17citations -
De novo SETD5 missense variants in individuals with MRD23 cluster within the protein’s SET domain2026 Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Daphna Marom, Yvonne Hilhorst‐Hofstee, Sarina G. Kant, Mira Kharbanda, Fiona Osborne, Lisa Robertson, +10 more
0citations -
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 -
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 -
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
6citations -
Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ramy Saad, Clementina Cobolli Gigli, Pleuntje J. van der Sluijs, Jon R. Wilson, Tzung‐Chien Hsieh, Vivienne P. M. McConnell, +20 more
0citations -
Genotype-Phenotype Correlation in Fibrous Dysplasia/McCune-Albright Syndrome2021 The Journal of Clinical Endocrinology & Metabolism article Medicine Bone Tumor Diagnosis and Treatments Open access
Maria Zhadina, Kelly Lauter Roszko, Raya E.S. Geels, Luis F de Castro, Michael Terrence Collins, Alison M. Boyce
20citations -
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
33citations -
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes2023 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Maria Sáez González, Kes Kloosterhuis, Laura A. van de Pol, Frank F. Baas, Harald M. M. Mikkers
18citations -
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Floranne Boulogne, Laura R. Claus, Henry H. Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, +15 more
15citations -
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence2020 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Christian Thomas Hübner, Robert Meyer, Asmaa Kenawy, Laima Ambrozaitytė, Aušra Matulevičienė, Florian Kraft, +3 more
27citations -
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