Papers matching “single nucleotide variants” 167
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Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries2021 Circulation Research article Biochemistry, Genetics and Molecular Biology Congenital heart defects research Open access
Doris Škorić‐Milosavljević, Rafik Tadros, Fernanda M. Bosada, Federico Tessadori, Jan Hendrik van Weerd, Odilia I. Woudstra, +74 more
40citations -
Genome-Wide Meta-Analysis Identifies Variants in DSCAM and PDLIM3 That Correlate with Efficacy Outcomes in Metastatic Renal Cell Carcinoma Patients Treated with Sunitinib
Meta H.M. Diekstra, Jesse Joachim Swen, Loes F.M. van der Zanden, Sita H. H. M. Vermeulen, Epie Boven, Ron H.J. Mathijssen, +20 more
7citations -
Validation of the BOADICEA Model in a Prospective Cohort of BRCA1/2 Pathogenic Variant Carriers2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Xin Yang, Thea M. Mooij, Goska Leslie, Lorenzo Ficorella, Nadine Andrieu, Karin Kast, +34 more
2citations -
Association of the Genetic Variant VEGFA rs3025039 with Incidence and Prognosis of Cholangiocarcinoma2025 Zeitschrift für Gastroenterologie conference-paper Medicine Cholangiocarcinoma and Gallbladder Cancer Studies
Justus Pein, Saskia Niklisch, Deniz Uluk, Carolin Victoria Schneider, Linda Hammerich, Cornelius Engelmann, +7 more
0citations -
The variant T allele of PvuII in ESR1 gene is a prognostic marker in early breast cancer survival2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies Open access
Danny Houtsma, Stefanie de Groot, Renée F. Baak-Pablo, Elma Meershoek‐Klein Kranenbarg, Caroline Seynaeve, Cornelis J.�H. van de Velde, +4 more
8citations -
PLCG2 variant p.P522R - associated with healthy aging- may reduce the aging of the human immune system2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Genetics, Aging, and Longevity in Model Organisms Open access
Annieck M. Diks, Cristina Teodósio, Bas de Mooij, Rick J. Groenland, Brigitta A. E. Naber, Inge F. de Laat, +8 more
0citations -
A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman, Anneke T. Vulto‐van Silfhout, Erica G. M. Boonen, Lara K. Holtes, +24 more
0citations -
Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour2021 Nature Human Behaviour article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Melinda C Mills, Felix C. Tropf, David M. Brazel, Natalie R. van Zuydam, Ahmad Vaez, Mawussé D. T. Agbessi, +78 more
157citations -
685P Genome-wide association meta-analysis identifies novel variants that correlate with efficacy outcomes in sunitinib-treated patients with metastatic renal cell carcinoma
Meta H.M. Diekstra, Jesse Joachim Swen, L. van der Zanden, Epic Boven, Ron H.J. Mathijssen, Arna Óskarsdóttir, +13 more
0citations -
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
2citations -
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
0citations