Author

Mauro Longoni

Harvard UniversityORCID 0000-0001-9600-1160Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Frances A. HighiD· 2 shared Julia WynniD· 2 shared Patricia K. DonahoeiD· 2 shared Wendy K. ChungiD· 2 shared Yufeng SheniD· 2 shared Aditi Chawla· 1 shared Adriana Huertez-Vasquez· 1 shared Akanchha KesariiD· 1 shared

Activity by Year

2017-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Frances A. HighORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 6, 2024

Development of a comprehensive genome-wide cardiovascular disease genetic risk assessment test

Laura M. Amendola, Alison J. Coffey, Josh Lowry…·Ryan J. Taft

This paper develops a genome-wide cardiovascular disease genetic risk assessment test that includes monogenic conditions, risk alleles, pharmacogenomic variants, and polygenic risk scores, showing high performance and scalability.

1 citation

humanwhole-genome sequencing

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedSep 25, 2023

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

Florence Petit, Mauro Longoni, Julie M. Wells…·Frances A. High

The paper identifies missense variants in PLS3 causing X-linked congenital diaphragmatic hernia and body wall defects through genetic analysis and functional studies.

11 citations

humanmouse

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GeneticsbioRxivPreprintNov 12, 2017

Genetic analysis of de novo variants reveals sex differences in complex and isolated congenital diaphragmatic hernia and indicates MYRF as a candidate gene

Hongjian Qi, Lan Yu, Xueya Zhou…·Yufeng Shen

The paper analyzes de novo variants in congenital diaphragmatic hernia cases to identify sex differences and a new candidate gene MYRF.

4 citations

humanwhole-exome sequencing

𝕏 PostBluesky