Author

Maurizio Genuardi

Università Cattolica del Sacro CuoreORCID 0000-0002-7410-8351Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:human· 1

Frequent Co-Authors

Alexandra MartinsiD· 2 shared Andreas LaneriD· 2 shared Carli M.J. TopsiD· 2 shared Elisabet OgnedaliD· 2 shared Ester Borràs· 2 shared Finlay MacraeiD· 2 shared Gabriel CapelláiD· 2 shared Ian M. FraylingiD· 2 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexandra MartinsORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

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, Kristina Lagerstedt‐Robinson, Jane Hübertz Frederiksen, Thomas van Overeem Hansen, Lise Graversen, Ian M. Frayling, Kiwamu Akagi, Gou Yamamoto, Fahd Al‐Mulla, Matthew J. Ferber, , Andreas Laner

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

medRxiv · May 13, 2024 · PreprintGenetic & Genomic Medicine

Systematic large-scale application of ClinGen InSiGHT APC-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases

Xiaoyu Yin, Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, Thomas van Overeem Hansen, Marta Pineda, Deborah Ritter, Johan T. den Dunnen, Emadeldin Hassanin, Wencong Lyman Lin, Ester Borràs, Karl Krahn, Margareta Nordling, , Stefan Aretz

medRxiv · May 3, 2024 · PreprintGenetic & Genomic Medicine