M. Famiglietti

Most-cited papers

UniProt: the Universal Protein Knowledgebase in 2023
A. Bateman, M. Martin, S. Orchard, M. Magrane +110 more
2022Nucleic Acids Res.6,464 citations Open access
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UniProt: the universal protein knowledgebase in 2021
A. Bateman, M. Martin, S. Orchard, M. Magrane +129 more
2020Nucleic Acids Res.5,835 citations Open access
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The Gene Ontology resource: enriching a GOld mine
S. Carbon, Eric Douglass, Benjamin M. Good, D. Unni +176 more
2020Nucleic Acids Res.3,173 citations Open access
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UniProt: the Universal Protein Knowledgebase in 2025
Alex Bateman, M. Martin, Sandra Orchard, M. Magrane +95 more
2024Nucleic Acids Research2,548 citations Open access
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Annotation of biologically relevant ligands in UniProtKB using ChEBI
E. Coudert, S. Gehant, E. de Castro, Monica Pozzato +109 more
2022bioRxiv292 citations Open access
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The Gene Ontology knowledgebase in 2026
Suzi A James P Seth J Michael Dustin Marc Pascale Nomi Aleksander Balhoff Carbon Cherry Ebert Feuermann G, Suzi A. Aleksander, J. Balhoff, S. Carbon +132 more
2025Nucleic Acids Research230 citations Open access
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The UniProtKB guide to the human proteome
L. Breuza, S. Poux, A. Estreicher, M. Famiglietti +6 more
2016Database J. Biol. Databases Curation160 citations Open access
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On expert curation and scalability: UniProtKB/Swiss-Prot as a case study
S. Poux, C. Arighi, M. Magrane, A. Bateman +8 more
2017Bioinform.127 citations Open access
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Annotating single amino acid polymorphisms in the UniProt/Swiss‐Prot knowledgebase
Y. Yip, M. Famiglietti, A. Gos, P. Duek +3 more
2008Human Mutation114 citations Open access
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Genetic variations and diseases in UniProtKB/Swiss-Prot: The ins and outs of expert manual curation
M. Famiglietti, A. Estreicher, A. Gos, Jerven T. Bolleman +7 more
2014Human Mutation50 citations Open access
Semantic Scholar
Scaling up data curation using deep learning: An application to literature triage in genomic variation resources
Kyubum Lee, M. Famiglietti, A. McMahon, Chih-Hsuan Wei +7 more
2018PLoS Comput. Biol.42 citations Open access
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A compendium of human gene functions derived from evolutionary modelling
M. Feuermann, H. Mi, Pascale Gaudet, A. Muruganujan +160 more
2025Nature32 citations Open access
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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar
M. Famiglietti, A. Estreicher, L. Breuza, S. Poux +3 more
2019Database J. Biol. Databases Curation20 citations Open access
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A Coordinated Approach by Public Domain Bioinformatics Resources to Aid the Fight Against Alzheimer’s Disease Through Expert Curation of Key Protein Targets
L. Breuza, C. Arighi, Ghislaine Argoud-Puy, Cristina Casals-Casas +20 more
2020Journal of Alzheimer's Disease8 citations Open access
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On expert curation and sustainability: UniProtKB/Swiss-Prot as a case study
S. Poux, C. Arighi, M. Magrane, A. Bateman +6 more
2016bioRxiv7 citations Open access
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Baseline blink reflex R2 changes correlate with affective and interoceptive domains in functional movement disorders
C. Vinciguerra, M. Gandolfi, Angela Sandri, M. Russo +27 more
2026Journal of neural transmission2 citations
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SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland
Dennis Kraemer, Dillenn Terumalai, M. Famiglietti, I. Filges +14 more
2023medRxiv0 citations Open access
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Curation of human protein variants in UniProtKB/Swiss-Prot
L. Breuza, M. Famiglietti, Teresa Manuela, L. Bougueleret +4 more
20170 citations Open access
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Human protein variants in UniProtKB/Swiss-Prot: improving access to knowledge through standardized annotations
M. Famiglietti, L. Breuza, Teresa Batista, S. Gehant +4 more
20160 citations Open access
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Protein Sequence Variants: Resources and Tools
Y. Yip, M. Famiglietti, E. Gasteiger, A. Bairoch
20080 citations
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