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177 ClinGen Framework for PIK3CD Variant Classification: Use of Adapted ACMG/AMP Guidelines2024 Clinical Immunology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Alejandro Nieto-Patlán, William Hankey, Justine Siew, Lijun Wang, Bertrand Boisson, Jes Maimaris, +10 more
0citations -
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 -
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2021 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elke de Boer, Burcu Yaldız, Anne‐Sophie Denommé‐Pichon, Leslie Matalonga, Steven Laurie, Wouter Steyaert, +67 more
3citations -
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
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Introduction to Galaxy Platform for NGS Variant Calling Pipeline2020 Advancements in Life Sciences (University of the Punjab) article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Rashid Saif, Aniqa Ejaz, Tania Mehmood, Suliman Mohammad Alghanem, Talha Saleem Ahmad
5citations -
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
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Enhancing explainability in process variant analysis: a framework for detecting and interpreting control-flow changes2025 Software & Systems Modeling article Business, Management and Accounting Business Process Modeling and Analysis Open access
Ali Norouzifar, Majid Rafiei, Marcus Dees, Wil M. P. van der Aalst
1citations -
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 -
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA22020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Romy L.S. Mesman, Fabienne M.G.R. Calléja, Miguel de la Hoya, Peter Devilee, Christi J. van Asperen, Harry Vrieling, +1 more
40citations -
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Floranne Boulogne, Laura R. Claus, Henry H. Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, +15 more
15citations -
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Figshare other Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Beatrice Valtorta, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha Saad Zaki, Denisa Bronišová, +26 more
0citations -
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Figshare other Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Beatrice Valtorta, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha Saad Zaki, Denisa Bronišová, +26 more
0citations -
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Genome Medicine article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Beatrice Valtorta, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha S Zaki, Denisa Bronišová, +26 more
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