Papers matching “single nucleotide variants” 167
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IGF1 and Insulin Receptor Single Nucleotide Variants Associated with Response in HER2-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy with or without a Fasting Mimicking Diet (BOOG 2013-04 DIRECT Trial)2023 Cancers article Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies Open access
Nadia de Gruil, Stefan Böhringer, Stefanie de Groot, Hanno Pijl, Judith R. Kroep, Jesse Joachim Swen
2citations -
Single Nucleotide Polymorphism Typing Going Spatial: In Situ Padlock Probes Targeting mRNA Variants to Identify Haploidentical Cells within the Tissue Environment2025 Clinical Chemistry article Biochemistry, Genetics and Molecular Biology Advanced biosensing and bioanalysis techniques Open access
Emiel Slaats, Katja Sallinger, Julia Schönberger, Bernadette Bramreiter, Jaqueline Anholts, Daniel Pitz Jacobsen, +4 more
0citations -
A single-nucleotide change in the Kozak sequence enhances protein expression2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology RNA and protein synthesis mechanisms Open access
Renzo A. Knol, Tahmina Fariaby, Eveline A. de Vlieger, Alexander Kros, Bram Slütter
0citations -
SECEDO: SNV-based subclone detection using ultra-low coverage single-cell DNA sequencing2022 Bioinformatics article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access cited by 1 patent
Hana Rozhoňová, Daniel Danciu, Stefan G. Stark, Gunnar Rätsch, André Kahles, Kjong-Van Lehmann
9citations -
SECEDO: SNV-based subclone detection using ultra-low coverage single-cell DNA sequencing2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Hana Rozhoňová, Daniel Danciu, Stefan G. Stark, Gunnar Rätsch, André Kahles, Kjong-Van Lehmann
1citations -
Deep structured learning for variant prioritization in Mendelian diseases2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Matt Christopher Danzi, Maike Franziska Dohrn, Sarah Fazal, Danique Beijer, Adriana P. Rebelo, Vívian Pedigone Cintra, +1 more
46citations -
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog, Goska Leslie, Thea M. Mooij, Joe Dennis, +78 more
147citations -
Variant Calling in the Dark Genome: Benchmarking SNV Calls in the Flanks of Structural Variants2026 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ningxin Dang, Peng Jia, Jiadong Lin, Yongyong Kang, Z K Li, Kai Ye, +1 more
0citations -
6513 Identification of pathogenic ACAN variants in healthy children with normal height and advanced bone age2024 Journal of the Endocrine Society article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
M Hernandez, Nancy Unanue, Hermine van Duyvenvoorde, Verónica Mericq G
0citations -
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals2020 Nature Genetics review Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access cited by 2 patents
Praveen Surendran, Elena Valeryevna Feofanova, Najim Lahrouchi, Ιωάννα Ντάλλα, Savita Karthikeyan, James P. Cook, +91 more
248citations -
Identification of novel genetic variants associated with short stature in a Baka Pygmies population2020 Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Matteo Zoccolillo, Claudia Moia, Sergio Comincini, Davide Cittaro, Dejan Lazarević, Karen A. Pisani, +2 more
11citations -
Exploring the contribution of genetic variants to high sunitinib exposure in patients with cancer2024 British Journal of Clinical Pharmacology article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Eline L. Giraud, Stefanie D. Krens, Stefan Böhringer, Ingrid M.E. Desar, Sita H. H. M. Vermeulen, Lambertus A.L.M. Kiemeney, +4 more
4citations -
Sugar-Sweetened Beverage Consumption May Modify Associations Between Genetic Variants in the CHREBP (Carbohydrate Responsive Element Binding Protein) Locus and HDL-C (High-Density Lipoprotein Cholesterol) and Triglyceride Concentrations2021 Circulation Genomic and Precision Medicine article Biochemistry, Genetics and Molecular Biology Nutrition, Genetics, and Disease Open access
Danielle E. Haslam, Gina Marie Peloso, Mélanie Guirette, Fumiaki Imamura, Traci M. Bartz, Achilleas Pitsillides, +50 more
12citations -
The effect of genetic variants in the transcription factor TSPYL family on the CYP3A4 mediated cyclosporine metabolism in kidney transplant patients2024 Clinical and Translational Science article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Qinglian Zhai, Dirk Jan A. R. Moes, Teun van Gelder, Maaike van der Lee, Jan‐Stephan Sanders, Fréderike J. Bemelman, +4 more
4citations -
PNPLA3 and SERPINA1 Variants Are Associated with Severity of Fatty Liver Disease at First Referral to a Tertiary Center2021 Journal of Personalized Medicine article Medicine Liver Disease Diagnosis and Treatment Open access
Georg Semmler, Lorenz Balcar, Hannes Oberkofler, Stephan Zandanell, Michael Straßer, David Niederseer, +6 more
16citations -
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, +58 more
9citations -
Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries2022 International Journal of Cardiology article Medicine Congenital Heart Disease Studies Open access
Odilia I. Woudstra, Doris Škorić‐Milosavljević, Barbara J.M. Mulder, Folkert Jan Meijboom, Marco C. Post, Monique R.M. Jongbloed, +7 more
12citations -
Variants of IL6, IL10, FCN2, RNASE3, IL12B and IL17B loci are associated with Schistosoma mansoni worm burden in the Albert Nile region of Uganda2023 PLoS neglected tropical diseases article Immunology and Microbiology Parasites and Host Interactions Open access
Oscar A. Nyangiri, Julius Mulindwa, Joyce Namulondo, Anna Kitibwa, Jacent Nassuuna, Alison M. Elliott, +10 more
2citations