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Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Cardiac electrophysiology and arrhythmias Open access
Jaël S. Copier, Marianne Bootsma, Chai‐Ann Ng, Arthur A.M. Wilde, Robin A. Bertels, Hennie Bikker, +12 more
1citations -
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants2022 Research Square preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Taru Muranen, Anna Morra, Sofia Khan, Daniel R. Barnes, Manjeet K. Bolla, Joe Dennis, +62 more
0citations -
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Xiaoyu Yin, Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, +26 more
0citations -
Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments2024 medRxiv preprint 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, +31 more
5citations -
Validation of the BOADICEA Model in a Prospective Cohort of BRCA1/2 Pathogenic Variant Carriers2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Xin Yang, Thea M. Mooij, Goska Leslie, Lorenzo Ficorella, Nadine Andrieu, Karin Kast, +34 more
2citations -
A missense variant effect map for the human tumour suppressor protein CHK22024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Marinella Gebbia, Daniel Zimmerman, Rosanna Jiang, Jochen Weile, Roujia Li, Michelle Gavac, +9 more
1citations -
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome2025 Research Square preprint Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Emilia D’Angelo, Laura Pignata, Francesco Cecere, Alessandro Vimercati, Maria Vittoria Cubellis, Abu Saadat, +8 more
0citations -
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Windy Berkofsky‐Fessler, Sandrine M. Caputo, +36 more
6citations -
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 -
Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
John‐Paul Plazzer, Finlay Macrae, Xiaoyu Yin, Bryony A. Thompson, Susan Mary Farrington, Lauren B. Currie, +29 more
7citations -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas James Boddicker, +91 more
3citations -
A Comprehensive and Accessible Model for Co-Segregation Analysis in BRCA1, BRCA2 , and PALB2 Variant Classification2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning, Maaike P.G. Vreeswijk, Mar Rodríguez‐Girondo
1citations -
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 -
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 -
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 -
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 -
Imbalanced expression for predicted high-impact, autosomal-dominant variants in a cohort of 3,818 healthy samples2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Niek de Klein, Freerk van Dijk, Patrick Deelen, Carlos G. Urzúa-Traslaviña, Annique Claringbould, Urmo Võsa, +6 more
3citations -
Modulating effects of FGF12 variants on Na V 1.2 and Na V 1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie T. van der Ven, +5 more
2citations