Papers matching “pathogenicity prediction” 266
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PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants2022 Research Square preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Taru Muranen, Anna Morra, Sofia Khan, Daniel R. Barnes, Manjeet K. Bolla, Joe Dennis, +62 more
0citations -
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inge M. M. Lakeman, Mar D M Rodríguez-Girondo, Andrew Lee, Nandi Celosse, Merel E. Braspenning, Klaartje van Engelen, +11 more
37citations -
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Floranne Boulogne, Laura R. Claus, Henry H. Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, +15 more
15citations -
Performance of five metagenomic classifiers for virus pathogen detection using respiratory samples from a clinical cohort2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ellen C. Carbo, Igor A. Sidorov, Anneloes L. van Rijn-Klink, Sander van Boheemen, Hailiang Mei, Pieter Sicco Hiemstra, +4 more
4citations -
Genome-wide alternative splicing profiling in the fungal plant pathogen Sclerotinia sclerotiorum during the colonization of diverse host families2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Agricultural and Biological Sciences Plant pathogens and resistance mechanisms Open access
Heba M. M. Ibrahim, Stefan Kusch, Marie Didelon, Sylvain Raffaele
2citations -
Torque teno virus loads after kidney transplantation predict allograft rejection but not viral infection2021 Journal of Clinical Virology article Medicine Renal Transplantation Outcomes and Treatments Open access
Aline L. van Rijn, Herman F. Wunderink, Igor A. Sidorov, Caroline S. van der Blij-de Brouwer, Aloys C.M. Kroes, Hein Putter, +3 more
75citations -
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies2022 eLife article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornelis L. Harteveld, Celeste Bento, +10 more
15citations -
Performance of Five Metagenomic Classifiers for Virus Pathogen Detection Using Respiratory Samples from a Clinical Cohort2022 Pathogens article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ellen C. Carbo, Igor A. Sidorov, Anneloes L. van Rijn-Klink, Sander van Boheemen, Hailiang Mei, Pieter Sicco Hiemstra, +4 more
14citations -
LARGE DELETIONS AND SMALL INSERTIONS AND DELETIONS IN THE FACTOR VIII GENE PREDICT FAILURE TO IMMUNE TOLERANCE INDUCTION IN PEOPLE WITH SEVERE HEMOPHILIA A AND HIGH-RESPONDING INHIBITORS2024 Hematology Transfusion and Cell Therapy article Medicine Hemophilia Treatment and Research Open access
Renan Pedra de Souza, RM Camelo, MM Dias, LL Jardim, MAP Santana, DG Chaves, +2 more
0citations -
The genetic diversity of the soybean rust pathogen Phakopsora pachyrhizi has been driven by two major evolutionary lineages2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Yeasts and Rust Fungi Studies Open access
Vinícius Delgado da Rocha, Everton Geraldo Capote Ferreira, Fernanda Machado Castanho, Marcia Kamogae Kuwahara, Claudia Vieira Godoy, M. C. Meyer, +10 more
2citations -
Two-stage total joint replacement for hip or knee septic arthritis: post-traumatic etiology and difficult-to-treat infections predict poor outcomes2024 Archives of Orthopaedic and Trauma Surgery article Medicine Orthopedic Infections and Treatments Open access
Antonio Russo, Filippo Migliorini, Fortunato Giustra, Francesco Bosco, Alessandro Massè, Giorgio Burastero
11citations -
Carriers of SCN9A variants linked to inherited and acquired pain syndromes show no alteration in the prevalence of pain or analgesic usage in the UK Biobank cohort2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Graeme W. T. Newton, Corin Charman, Aidan P. Nickerson, Keith Geoffrey Phillips, Achim Kless, James Philip Dunham, +1 more
2citations -
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy2023 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent
Richard J.L.F. Lemmers, Russell J. Butterfield, Patrick J. van der Vliet, Jan De Bleecker, Ludo van der Pol, Diane Marie Dunn, +17 more
19citations -
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Zelia Corradi, Rob W.J. Collin, Jim Swildens, Frans P.M. Cremers
10citations -
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 -
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornelis L. Harteveld, Celeste Bento, +10 more
0citations -
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +25 more
6citations -
P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL2022 HemaSphere article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Coralea Stephanou, Petros Kountouris, Carsten Werner Lederer, Celeste Bento, C Cornelis L Hartveld, J Jan Traeger-Synodinos, +22 more
0citations -
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias2023 The American Journal of Human Genetics article Neuroscience Genetic Neurodegenerative Diseases Open access
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, +66 more
33citations -
Large language models streamline automated machine learning for clinical studies2024 Nature Communications article Medicine Artificial Intelligence in Healthcare and Education Open access
Soroosh Tayebi Arasteh, Tianyu Han, Mahshad Lotfinia, Christiane Katharina Kuhl, Jakob Nikolas Kather, Daniel Truhn, +1 more
115citations -
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 -
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes2022 JAMA Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Nasim Mavaddat, Leila Dorling, Jamie Allen, Anna González‐Neira, Renske Keeman, Manjeet K. Bolla, +85 more
171citations -
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 -
Ultraviolet Mutagenesis Coupled with Next-Generation Sequencing as a Method for Functional Interrogation of Powdery Mildew Genomes2020 Molecular Plant-Microbe Interactions article Agricultural and Biological Sciences Powdery Mildew Fungal Diseases Open access
Mirna Barsoum, Stefan Kusch, Lamprinos Frantzeskakis, Ulrich Schaffrath, Ralph Panstruga
31citations