Papers matching “functional interpretation” 683
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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 -
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 -
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 -
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 -
A trait‐based framework to understand and predict the response of wild bee functional groups to anthropogenic landscapes2025 Insect Conservation and Diversity article Agricultural and Biological Sciences Plant and animal studies Open access
J. Visser, Leon Marshall, Jakub Straka, Nicolas J. Vereecken
3citations -
M Protein Interference in Renal Function Assays: A Quest for True Kidney Function2025 The Journal of Applied Laboratory Medicine article Health Professions Clinical Laboratory Practices and Quality Control Open access
Michelle P. van der Helm, Brigitte A. Wevers, Cees van Beek, Paul W. Schenk, Angela Bikker
2citations -
Human Neural Stem Cell Induced Functional Network Stabilization After Cortical Stroke: A Longitudinal Resting-State fMRI Study in Mice2020 Frontiers in Cellular Neuroscience article Neuroscience Functional Brain Connectivity Studies Open access
Anuka Minassian, Claudia Green, Michael Diedenhofen, Stefanie N. Vogel, Simon Heß, Maren Stoeber, +4 more
15citations