Papers matching “functional interpretation” 950
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EchoGO: Traceable Functional Interpretation Across Annotation Contexts2026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Bioinformatics and Genomic Networks Open access
Camilo Escobar-Sierra, Felix Langschied, Angelina Miller, Pedro A. Inostroza
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 -
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk2021 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Rick A.C.M. Boonen, Wouter W. Wiegant, Nandi Celosse, Bas Vroling, Stephan Heijl, Zsofia Kote‐Jarai, +10 more
58citations -
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 -
The Effect of General Anesthesia and Mechanical Ventilation on the Echocardiographic Evaluation of Cardiac Function2026 Journal of the American Society of Echocardiography review Medicine Cardiovascular Function and Risk Factors Open access
Johan T. M. Tol, Sharida Mohamedhoesein, Susanne Eberl, Denise Petra Veelo, S. Matthijs Boekholdt, Nina Ajmone Marsan, +1 more
0citations -
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach2022 Human Mutation article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mads Thomassen, Romy L.S. Mesman, Thomas van Overeem Hansen, Mireia Menéndez, Maria Rossing, Ada Esteban‐Sánchez, +43 more
9citations -
Preoperative functional liver imaging score in hepatocellular carcinoma resection: systematic review and meta-analysis2026 European Radiology Abdomen review Medicine Hepatocellular Carcinoma Treatment and Prognosis Open access
Felix Barajas Ordonez, Isaac Eli Martinez Safar, Simon D. Westfechtel, Ana M Rendón-Garavito, Daniel Truhn, Christiane Katharina Kuhl, +2 more
0citations -
Axial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia2026 Annals of Clinical and Translational Neurology article Neuroscience Genetic Neurodegenerative Diseases Open access
Christian Rummey, Sub H. Subramony, David R. Lynch, Louise A. Corben, Martin Bruce Delatycki, Jörg Bernhard Schulz, +47 more
0citations -
Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation2020 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Álvaro N.A. Monteiro, Arne Nedergaard Kousholt, Diana Eccles, Gaël A. Millot, Jean‐Yves Masson, Marjanka K. Schmidt, +5 more
48citations -
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 -
Localized prediction of glutamate from whole-brain functional connectivity of the pregenual anterior cingulate cortex2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Functional Brain Connectivity Studies Open access
Louise Martens, Nils B. Kroemer, Vanessa Teckentrup, Lejla Čolić, Nicola Palomero‐Gallagher, Meng Li, +1 more
1citations