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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 -
Variant Calling in the Dark Genome: Benchmarking SNV Calls in the Flanks of Structural Variants2026 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ningxin Dang, Peng Jia, Jiadong Lin, Yutong Xie, Yongyong Kang, Z K Li, +2 more
0citations -
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis2021 Genes article Biochemistry, Genetics and Molecular Biology Dermatological and Skeletal Disorders Open access
Yentl Huybrechts, Eveline Boudin, Gretl Hendrickx, Ellen Steenackers, Neveen A. T. Hamdy, Geert R. Mortier, +4 more
9citations -
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Michael G. Anderson, Windy Berkofsky‐Fessler, +37 more
101citations -
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 -
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 -
Stepwise ABC system for classification of any type of genetic variant2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen
102citations -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification2025 Nature Communications article 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, +86 more
11citations -
Ad26.COV2.S elicited neutralizing activity against Delta and other SARS-CoV-2 variants of concern2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine SARS-CoV-2 and COVID-19 Research Open access
Mandy A. C. Jongeneelen, Krisztián Kaszás, Daniel Veldman, Jeroen Huizingh, Remko van der Vlugt, Theo G. Schouten, +15 more
45citations -
Enhancing data consistency in information flow of manual and variant-rich assembly processesEnhancing data consistency in information flow of manual and variant-rich assembly processes2026 RWTH Publications (RWTH Aachen) conference-paper Engineering Manufacturing Process and Optimization Open access
Valesko Dausch, Sebastian Beckschulte, Robert H. Schmitt, Matthias Kreimeyer
0citations -
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 -
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