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Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS2024 The American Journal of Human Genetics article Medicine Genetic factors in colorectal cancer Open access
Xiaoyu Yin, Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, +26 more
17citations -
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, +87 more
13citations -
Multivocal Exhibition: Exploring Cultural Perspectives through User-Curated Art Exhibitions2024 Journal on Computing and Cultural Heritage article Arts and Humanities Museums and Cultural Heritage Open access
Bruno Sartini, Sarah Binta Alam Shoilee, Claudia Alessandra Libbi, Victor de Boer
4citations -
Teachers’ visual inspection of Curriculum-Based Measurement progress graphs: An exploratory, descriptive eye-tracking study2022 Frontiers in Education article Decision Sciences Educational Assessment and Improvement Open access
Roxette M. van den Bosch, Christine A. Espin, Maria T. Sikkema‐de Jong, Siuman Chung, Priscilla D. M. Boender, Nadira Saab
2citations -
Deep learning to predict long-term mortality from plain chest radiographs in patients referred for suspected angina2023 European Heart Journal article Health Professions Artificial Intelligence in Healthcare Open access
Giuseppe D’Ancona, Mattia Savardi, Mauro Massussi, Viktor van der Valk, Alberto Signoroni, Davide Farina, +4 more
0citations -
Artificial Intelligence for Inflammatory Bowel Diseases (IBD); Accurately Predicting Adverse Outcomes Using Machine Learning2022 Digestive Diseases and Sciences article Biochemistry, Genetics and Molecular Biology Inflammatory Bowel Disease Open access
Aria Zand, Zack Stokes, Arjun Sharma, Welmoed Kirsten van Deen, Daniël W. Hommes
32citations -
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 -
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 -
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant2022 Circulation Genomic and Precision Medicine article Medicine Cardiovascular Effects of Exercise Open access
Edgar T. Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria Nicole Parikh, Gerard J. te Meerman, +43 more
30citations -
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 -
3-D seismic chronostratigraphy of reefs and drifts in the Browse Basin, NW Australia2022 Geological Society of America Bulletin article Earth and Planetary Sciences Geological formations and processes Open access
Sebastian Thronberens, Stefan Back, Julien Bourget, Tony Allan, Lars Reuning
10citations -
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 -
Exploring Perspectives and Barriers in Implementing Home Monitoring for Pediatric Pulmonary Diseases: Mixed Methods Study2026 JMIR Pediatrics and Parenting article Health Professions Mobile Health and mHealth Applications Open access
M P O Stoop, Romy Krul, Badies HAN Manai, Iris Groothuis, Arwen Sprij, Marianne Nuijsink, +2 more
0citations