Papers matching “disease-associated variants” 47
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Population matched (pm) germline allelic variants of immunoglobulin (IG) loci: Relevance in infectious diseases and vaccination studies in human populations2021 Genes and Immunity article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Indu Khatri, Magdalena A. Berkowska, Erik B. van den Akker, Cristina Teodósio, Marcel J. T. Reinders, Jacques J. M. van Dongen
32citations -
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis2024 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Meghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, Alexander Schmid, Manuel Holtgrewe, Miriam Elbracht, +2 more
3citations -
Federated single-cell QTL meta-analysis reveals novel disease mechanisms2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Dan Kaptijn, Lieke Michielsen, Drew R. Neavin, Aida Ripoll-Cladellas, José Alquicira-Hernández, Maryna Korshevniuk, +51 more
1citations -
The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype specific2026 JCI Insight article Biochemistry, Genetics and Molecular Biology Nuclear Structure and Function Open access
Sebastian Sewerin, Charlotte Aurnhammer, Mohamed Hamed, Gwladys Revêchon, Ria Anne-Rose Schönauer, Christin Findeisen, +26 more
0citations -
Generation of isogenic allelic series of LMNA-mutated hiPSC lines using the novel and highly-efficient targeting platform, STRAIGHT-IN2024 Cardiovascular Research article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Viviana Meraviglia, Albert Blanch-Asensio, Richard P. Davis, Christine L. Mummery, Milena Bellin
0citations -
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases2023 Nature article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access cited by 1 patent
Martin A. Mensah, Henri Niskanen, Alexandre Papadopoulos Magalhães, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, +34 more
168citations -
Intersecting single-cell transcriptomics and genome-wide association studies identifies crucial cell populations and candidate genes for atherosclerosis2021 medRxiv preprint Immunology and Microbiology Atherosclerosis and Cardiovascular Diseases Open access
Lotte Slenders, Lennart P. L. Landsmeer, Kai Cui, Marie A.C. Depuydt, Maarten C. Verwer, Joost M. Mekke, +17 more
4citations -
Optimized summary-statistic-based single-cell eQTL meta-analysis2025 Scientific Reports article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Maryna Korshevniuk, Harm-Jan Westra, Roy Oelen, Monique G.P. van der Wijst, Lude Franke, Marc Jan Bonder, +31 more
3citations -
From Atoms to Neuronal Spikes: A Multi-Scale Simulation Framework2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Vincenzo Carnevale, Thorsten Hater, Nauman Sultan, Giulia Rossetti, Sandra Diaz-Pier, Paolo Carloni
0citations -
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein–Protein Interactions2021 Journal of Medicinal Chemistry article Biochemistry, Genetics and Molecular Biology Protein Tyrosine Phosphatases Open access
Sara Bobone, Luca Pannone, Barbara Biondi, Maja Šolman, Elisabetta Flex, Viviana Claudia Canale, +22 more
52citations -
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting its Protein-Protein Interactions2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Protein Tyrosine Phosphatases Open access
Sara Bobone, Luca Pannone, Barbara Biondi, Maja Šolman, Elisabetta Flex, Viviana Claudia Canale, +22 more
2citations -
Drosophila melanogaster as a versatile model organism to study genetic epilepsies: An overview2023 Frontiers in Molecular Neuroscience article Medicine Epilepsy research and treatment Open access
Florian P. Fischer, Robin A. Karge, Yvonne G. Weber, Henner Koch, Stefan Wolking, Aaron Voigt
50citations -
Timing matters: exon skipping therapy is most effective when initiated early in a mouse model of Duchenne muscular dystrophy2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Sofia Stenler, Junyu Huang, Tirsa L.E. van Westering, Anna M. L. Coenen-Stass, Kaarel Krjutškov, Samir EL Andaloussi, +2 more
0citations