Author

Paola Ghiorzo

McGill University and Génome Québec Innovation CentreORCID 0000-0002-3651-8173Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alisa M. GoldsteiniD· 2 shared Kevin M. BrowniD· 2 shared Nicholas K. HaywardiD· 2 shared Susana PuigiD· 2 shared Adèle C. GreeniD· 1 shared Alessia ViscontiiD· 1 shared Alex Stratigos· 1 shared Alex William HewittiD· 1 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alisa M. GoldsteinORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineFamilial CancerPeer-reviewedJul 2, 2021

Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family

Kevin M. Brown, Mai Xu, Michael R. Sargen…·Maria Teresa Landi

The paper identifies a novel NRAS variant in a melanoma-prone family and shows it impairs MAPK/AKT signaling while enhancing PI3K signaling.

3 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsNature CommunicationsPeer-reviewedNov 8, 2018

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

David L. Duffy, Gu Zhu, Xin Li…·Nicholas Orr

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.

117 citationstop 2%

humanGWAS summary statistics

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