Papers matching “pathogenicity prediction” 271
Not finding it? Sign in to also search OpenAlex live.
-
Transient RNA structures underlie highly pathogenic avian influenza virus genesis2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Influenza Virus Research Studies Open access
Mathis Funk, Monique I. J. Spronken, Theo M. Bestebroer, Anja C. M. de Bruin, Alexander P. Gultyaev, Ron A. M. Fouchier, +2 more
3citations -
Interspecies interactions alter the antibiotic sensitivity of Pseudomonas aeruginosa2024 Microbiology Spectrum article Biochemistry, Genetics and Molecular Biology Bacterial biofilms and quorum sensing Open access
Catharina I. M. Koumans, Sebastian Tommi Tandar, Apostolos Liakopoulos, J. G. Coen van Hasselt
6citations -
Albuminuria or proteinuria in glomerular disease and CKD—which one to use?2026 Nephrology Dialysis Transplantation article Medicine Chronic Kidney Disease and Diabetes Open access
Vanja Ivković, Andreas Kronbichler, Chee Kay Cheung, Jonathan Barratt, Annette N. Bruchfeld, Jürgen Floege, +1 more
1citations -
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification2022 Circulation Genomic and Precision Medicine article Medicine Cardiomyopathy and Myosin Studies Open access
Marijke H. van der Meulen, Johanna C. Herkert, Susanna L. den Boer, Gideon J. du Marchie Sarvaas, Nico A. Blom, Arend D.J. ten Harkel, +13 more
21citations -
KIF23 regulation by miR-107 controls replicative tumor cell fitness in mouse and human hepatocellular carcinoma2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology MicroRNA in disease regulation Open access
Sanchari Roy, Carolin Lohr, Rossella Pellegrino, Mihael Vucur, Michael T. Singer, Veronika Buettner, +7 more
0citations -
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria2021 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Pleuntje J. van der Sluijs, Marielle M. Alders, Alexander J.M. Dingemans, Kareesma Parbhoo, Bregje W.M. van Bon, Jennifer C. Dempsey, +17 more
12citations -
The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis2025 Brain Communications article Medicine Amyotrophic Lateral Sclerosis Research Open access cited by 1 patent
Joke J.F.A. van Vugt, Ramona A.J. Zwamborn, Erwin Bekema, Maarten Kooyman, Philippe Corcia, Philippe Couratier, +12 more
2citations -
Outer Pore Collapse as a Potential Mechanism of Partial Loss of Pain in Nav1.7 M899I2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Vishal Sudha Bhagavath Eswaran, Estefania Torres-Ortiz, Petra A. I. Hautvast, Amdiya Botchoi, Silvia Detro‐Dassen, Anika Neureiter, +3 more
0citations -
ACMG / AMP ‐Based Variant Classification of a Novel HBA2 Variant ( HBA2 : C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana ( HBA2 :C. 179G >A) Causing Non‐Deletional Hb H Disease2026 International Journal of Laboratory Hematology article Medicine Hemoglobinopathies and Related Disorders Open access
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, +9 more
0citations -
Molecular Classification Predicts Response to Radiotherapy in the Randomized PORTEC-1 and PORTEC-2 Trials for Early-Stage Endometrioid Endometrial Cancer2023 Journal of Clinical Oncology article Medicine Endometrial and Cervical Cancer Treatments Open access
Nanda Horeweg, Remi A. Nout, Ina Maria Jurgenliemk-Schulz, Ludy C.H.W. Lutgens, Jan J. Jobsen, Marie A.D. Haverkort, +38 more
104citations -
Stepwise ABC system for classification of any type of genetic variant2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 2 patents
Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen
102citations -
Benchmark of thirteen bioinformatic pipelines for metagenomic virus diagnostics using datasets from clinical samples2021 Journal of Clinical Virology article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Jutte J.C. de Vries, Julianne Rose Brown, Nicole Fischer, Igor A. Sidorov, Sofia Morfopoulou, Jiabin Huang, +24 more
73citations -
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 -
Landscape epidemiology of Batrachochytrium salamandrivorans: reconciling data limitations and conservation urgency2021 Ecological Applications article Environmental Science Amphibian and Reptile Biology Open access
Wouter Beukema, Jesse Erens, Vanessa Schulz, Gwij Stegen, Annemarieke Spitzen–van der Sluijs, Tariq Stark, +8 more
19citations -
Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Sunwoo Liv Lee, Lara A. Menzies, Eleanor Hay, Eguzkine Ochoa, France Docquier, Fay Rodger, +16 more
18citations -
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study2024 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Rawda Naamneh Elzenaty, Idoia Martinez de la Piscina, Chrysanthi Kouri, Kay‐Sara Sauter, Grit Sommer, Luis Antonio Castaño, +1 more
10citations -
Fecal profiling reveals a common microbial signature for pancreatic cancer in Finnish and Iranian cohorts2025 Gut Pathogens article Biochemistry, Genetics and Molecular Biology Gut microbiota and health Open access
Heidelinde Sammallahti, Satu Pekkala, Arto Kokkola, Hamid Asadzadeh Aghdaei, Mehdi Azizmohammad Looha, Reza Ghanbari, +6 more
8citations