Author

Maura Brunetti

Ospedale Sant'AnnaORCID 0000-0001-9547-904XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrea CalvoiD· 2 shared Gabriele MoraiD· 2 shared Jinhui DingiD· 2 shared Juan Carlos TroncosoiD· 2 shared Marya S. SabiriD· 2 shared Olga PletnikováiD· 2 shared Pentti J. TienariiD· 2 shared Ruth ChiaiD· 2 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Andrea CalvoORCID

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintJul 6, 2020

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

Ruth Chia, Marya S. Sabir, Sara Bandrés‐Ciga…·Thomas G. Beach

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

6 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintJun 29, 2020

Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation

Janel O. Johnson, Ruth Chia, Danny E. Miller…·Bryan J. Traynor

The paper identifies de-novo SPTLC1 mutations in juvenile ALS patients and suggests serine supplementation may alleviate symptoms.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky