Papers matching “pathogenicity prediction” 266
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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 -
Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
John‐Paul Plazzer, Finlay Macrae, Xiaoyu Yin, Bryony A. Thompson, Susan Mary Farrington, Lauren B. Currie, +29 more
7citations -
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 Zenodo (CERN European Organization for Nuclear Research) dataset 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 -
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 -
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach2022 Human Mutation article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mads Thomassen, Romy L.S. Mesman, Thomas van Overeem Hansen, Mireia Menéndez, Maria Rossing, Ada Esteban‐Sánchez, +43 more
9citations -
RAD51 as a functional biomarker for homologous recombination deficiency in cancer: a promising addition to the HRD toolbox?2021 Expert Review of Molecular Diagnostics article Medicine PARP inhibition in cancer therapy Open access cited by 1 patent
Lise M. van Wijk, Andreea B. Nilas, Harry Vrieling, Maaike P.G. Vreeswijk
37citations -
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 122020 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Laëtitia Meulemans, Romy L.S. Mesman, Sandrine M. Caputo, Sophie E. Krieger, Marine Guillaud-Bataille, Virginie Caux‐Moncoutier, +25 more
34citations -
A database of flavivirus RNA structures with a search algorithm for pseudoknots and triple base interactions2020 Bioinformatics article Biochemistry, Genetics and Molecular Biology RNA and protein synthesis mechanisms Open access
Alan Zammit, Leon Helwerda, René C. L. Olsthoorn, Fons J. Verbeek, Alexander P. Gultyaev
10citations