Author

Sebastian Alexis Vishnopolska

Consejo Nacional de Investigaciones Científicas y TécnicasORCID 0000-0002-1729-9948Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Assay:protein sequence· 1 Approach:statistical model· 1

Frequent Co-Authors

Marcelo Adrian MartiiD· 2 shared Adrian Gustavo TurjanskiiD· 1 shared Alexander A.L. JorgeiD· 1 shared Alexandru SaveanuiD· 1 shared Ana Claudia KeselmaniD· 1 shared Andrew Nahum DauberiD· 1 shared Anne BarlieriD· 1 shared Ayse Bilge OzeliD· 1 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Marcelo Adrian MartiORCID

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2 papers

Recent·Most cited

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Péter Gergics, Cathy Smith, Hironori Bando, Alexander A.L. Jorge, Denise Rockstroh, Sebastian Alexis Vishnopolska, Frédéric Castinetti, Mariam Maksutova, Luciani R. S. Carvalho, Julia Hoppmann, Julian Martinez-Mayer, F. Albarel, Debora Giselle Braslavsky, Ana Claudia Keselman, Ignacio Bergadá, , Sally Ann Camper

The paper identifies splice-disruptive POU1F1 variants, including synonymous ones, associated with hypopituitarism using high-throughput splicing assays.

The American Journal of Human Genetics · Jul 15, 2021Peer-reviewedGenetic & Genomic Medicine

VarQ: a tool for the structural analysis of Human Protein Variants

Leandro Radusky, Carlos Pablo Modenutti, Javier Delgado, Juan P. Bustamante, Sebastian Alexis Vishnopolska, Christina Kiel, Luis G. Serrano, Marcelo Adrian Marti, Adrian Gustavo Turjanski

VarQ assesses the functional impact of single amino acid substitutions on protein activity, folding, and interactions using curated variants.

Frontiers in Genetics · Dec 6, 2018Peer-reviewedBioinformatics