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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 -
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 -
ACMG / AMP ‐Based Variant Classification of a Novel HBA2 Variant ( HBA2 : C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana ( HBA2 :C. 179G >A) Causing Non‐Deletional Hb H Disease2026 International Journal of Laboratory Hematology article Medicine Hemoglobinopathies and Related Disorders Open access
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, +9 more
0citations -
Breakthrough SARS-CoV-2 infections with the delta (B.1.617.2) variant in vaccinated patients with immune-mediated inflammatory diseases using immunosuppressants: a substudy of two prospective cohort studies
Koos P J van Dam, Sander W. Tas, Nicoline F. Post, Fréderike J. Bemelman, Agner R. Parra Sánchez, Abraham Rutgers, +7 more
47citations -
Population and family data support TNNT2 p.Arg288Cys as an intermediate effect variant in hypertrophic cardiomyopathy2026 International Journal of Cardiology article Medicine Cardiomyopathy and Myosin Studies Open access
Talitha C. F. Spanjersberg, Fahima Hassanzada, Jan D.H. Jongbloed, Dennis Dooijes, J. Peter van Tintelen, Folkert Wouter Asselbergs, +5 more
0citations -
Assessing clinical decision support system tools in precision oncology: piloting ring testing2026 ESMO Real World Data and Digital Oncology article Medicine Artificial Intelligence in Healthcare and Education Open access
Vigdis Nygaard, S. Zhao, D. Tamborero, Richard Rosenquist, Albrecht Stenzinger, Paul Roepman, +15 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 -
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 -
Further delineation of phenotypic spectrum of SCN2A ‐related disorder2021 American Journal of Medical Genetics Part A article Medicine Epilepsy research and treatment Open access
Diana Baralle, Christopher Bennett, Tracy Ann Briggs, Emilia K. Bijlsma, Jill Clayton‐Smith, Panayiotis Constantinou, +13 more
10citations