Author

Rolando Hernández Trapero

Institute of Genetics and CancerORCID 0000-0002-9066-0699Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Biochemistry· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:DNA methylation· 1 Research Focus:protein folding & dynamics· 1 Assay:protein structure· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Joseph A. MarshiD· 2 shared Cherie P. BrunkeriD· 1 shared Craig Carl TeerlinkiD· 1 shared Dana C. Hughes· 1 shared David Jonah GrunwaldiD· 1 shared Jack P. C. WilliamsiD· 1 shared Jeff StevensiD· 1 shared Julio Cesar FacelliiD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Joseph A. MarshORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Complementary roles of structure and variant effect predictors in RyR1 clinical interpretation

Rolando Hernández Trapero, Mihaly Badonyi, Lukas Gerasimavicius, Joseph A. Marsh

This study evaluates 70 variant effect predictors for RyR1 missense variants and introduces a structural metric, SPDV, to assign ACMG/AMP evidence levels for clinical interpretation.

Human Mutation · Jan 1, 2025Peer-reviewedGenetic & Genomic Medicine

Structural Insight into the Function of Human Peptidyl Arginine Deiminase 6

Jack P. C. Williams, Stéphane Mouilleron, Rolando Hernández Trapero, M. Teresa Bertran, Joseph A. Marsh, Louise J. Walport

This study determines the crystal structure of human PADI6, revealing structural differences that suggest it lacks catalytic activity compared to other PADIs.

Computational and Structural Biotechnology Journal · Aug 16, 2024Peer-reviewedBiochemistry

A role for the MEGF6 gene in predisposition to osteoporosis

Craig Carl Teerlink, Michael J. Jurynec, Rolando Hernández Trapero, Jeff Stevens, Dana C. Hughes, Cherie P. Brunker, Kerry G. Rowe, David Jonah Grunwald, Julio Cesar Facelli, Lisa Cannon‐Albright

The paper identifies a rare variant in the MEGF6 gene associated with osteoporosis through segregation analysis, functional assays, and protein structure modeling.

Annals of Human Genetics · Oct 7, 2020Peer-reviewedGenetics