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Melanoma arising from pre-existing naevus in carriers of a germline CDKN2A pathogenic variant2024 British Journal of Dermatology article Medicine Cutaneous Melanoma Detection and Management Open access
Daan Jan Willem Rauwerdink, Anne M.R. Schrader, Thomas P. Potjer, Ellen Kapiteijn, Jos A. van der Hage, Remco van Doorn
2citations -
Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers2024 Gynecologic Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Iris A.S. Stroot, Joost Bart, Harry Hollema, Mathilde Jalving, Marise M. Wagner, Refika Yigit, +21 more
2citations -
Individualised progesterone receptor modulator prevention strategies for triple-negative breast cancer in BRCA1 pathogenic variant carriers2026 npj Breast Cancer review Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Martin Widschwendter, Rita Schmutzler, Nora Pashayan, Jelle Wesseling, Marc D. Tischkowitz, Michal Zikan, +22 more
0citations -
Breast Density Changes after Risk-Reducing Salpingo-oophorectomy in Women with a Pathogenic Germline Variant in BRCA1 or BRCA22025 Cancer Epidemiology Biomarkers & Prevention article Medicine Digital Radiography and Breast Imaging Open access
Elizabeth A. Loehrer, Frederieke H. van der Baan, Thea M. Mooij, Nadine Andrieu, Antonis C. Antoniou, Monique D. Dorrius, +12 more
0citations -
Barley Ror1 encodes a class XI myosin required for mlo‐based broad‐spectrum resistance to the fungal powdery mildew pathogen2022 The Plant Journal article Agricultural and Biological Sciences Powdery Mildew Fungal Diseases Open access
Johanna Acevedo‐Garcia, Kim D. Walden, Franz Leissing, Kira Baumgarten, Katarzyna Drwiega, Mark Kwaaitaal, +12 more
11citations -
Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias2023 Circulation Genomic and Precision Medicine article Medicine Cardiomyopathy and Myosin Studies Open access
Caroline Pham, Karolina Andrzejczyk, Sean Joseph Jurgens, Ronald H. Lekanne Deprez, Kaylin C.A. Palm, Alexa M.C. Vermeer, +14 more
6citations -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition2022 Molecular Psychiatry article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, +89 more
35citations -
Carriers of SCN9A variants linked to inherited and acquired pain syndromes show no alteration in the prevalence of pain or analgesic usage in the UK Biobank cohort2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Graeme W. T. Newton, Corin Charman, Aidan P. Nickerson, Keith Geoffrey Phillips, Achim Kless, James Philip Dunham, +1 more
2citations -
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Manon H. C. A Peeters, Mubeen Khan, Anoek A. M. B Rooijakkers, Timo W. F. Mulders, Lonneke Haer‐Wigman, Camiel J. F. Boon, +7 more
42citations -
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Manon H. C. A Peeters, Mubeen Khan, Anoek A. M. B Rooijakkers, Timo W. F. Mulders, Lonneke Haer‐Wigman, Camiel J. F. Boon, +7 more
7citations -
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome2022 Neurology article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maike Franziska Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Śmigiel, Alka Malhotra, +8 more
11citations -
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants2026 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inés Llinares‐Burguet, Lara Sanoguera‐Miralles, Elena Bueno Martínez, Ada Esteban‐Sánchez, Daniel Romano-Medina, Lobna Ramadane‐Morchadi, +7 more
1citations -
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Marco Angelozzi, Anirudha Karvande, Arnaud Molin, Alyssa L. Ritter, Juliann M. Savatt, Kristen Douglass, +40 more
18citations -
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 -
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies2022 bioRxiv (Cold Spring Harbor Laboratory) preprint 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
0citations -
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 -
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene2020 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Patricia Llovet, Beatriz Díez‐Gómez, Marı́a J. Caloca, +9 more
20citations -
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 -
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Zelia Corradi, Rob W.J. Collin, Jim Swildens, Frans P.M. Cremers
10citations -
OC 60.2 Population-Based Prevalence and Mutational Landscape of Von Willebrand Disease using Large-Scale Genetic Databases2023 Research and Practice in Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
Omid Seidizadeh, Andrea Cairo, Luciano Baronciani, Luca V. C. Valenti, Flora Peyvandi
0citations -
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 122020 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Laëtitia Meulemans, Romy L.S. Mesman, Sandrine M. Caputo, Sophie E. Krieger, Marine Guillaud-Bataille, Virginie Caux‐Moncoutier, +25 more
34citations -
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