Papers matching “pathogenicity prediction” 191
Not finding it? Sign in to also search OpenAlex live.
-
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 -
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 -
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 -
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 -
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 -
Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ramy Saad, Clementina Cobolli Gigli, Pleuntje J. van der Sluijs, Jon R. Wilson, Tzung‐Chien Hsieh, Vivienne P. M. McConnell, +20 more
0citations -
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome2022 Neurology article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maike Franziska Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Śmigiel, Alka Malhotra, +8 more
11citations -
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Marco Angelozzi, Anirudha Karvande, Arnaud Molin, Alyssa L. Ritter, Juliann M. Savatt, Kristen Douglass, +40 more
18citations -
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers2024 Journal of Medical Genetics article 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
16citations -
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton’s tyrosine kinase case-study2023 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lucía del Pino Molina, Yolanda Soto Serrano, Keren Reche Yebra, J. Marty Lobo, B. González Martínez, María Bravo García‐Morato, +3 more
4citations -
Development of a machine‐learning model to identify the impacts of pesticides characteristics on soil microbial communities from high‐throughput sequencing data2022 Environmental Microbiology article Environmental Science Pesticide and Herbicide Environmental Studies Open access
Mingjing Ke, Nuohan Xu, Zhenyan Zhang, Danyan Qiu, Jian Kang, Tao Lu, +5 more
25citations -
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene2020 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Patricia Llovet, Beatriz Díez‐Gómez, Marı́a J. Caloca, +9 more
20citations -
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Gisella Figlioli, Amandine Billaud, Thomas U. Ahearn, Natalia Antonenkova, Heiko Becher, Matthias W. Beckmann, +91 more
15citations -
IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients2024 Hormone Research in Paediatrics article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Lauren D Punt, Daniëlle C M van der Kaay, Petra A. van Setten, Kirsten de Groote, Anne R Kruijsen, Gianni Bocca, +7 more
2citations -
A chromosome-scale genome assembly resource for Myriosclerotinia sulcatula infecting sedge grass (Carex sp.)2020 RWTH Publications (RWTH Aachen) article Agricultural and Biological Sciences Plant pathogens and resistance mechanisms Open access
Stefan Kusch, Heba M. M. Ibrahim, Catherine Zanchetta, Céline Lopez‐Roques, Cécile Donnadieu, Sylvain Raffaele
0citations