Author

Marc A. M. Simon

University of PittsburghORCID 0000-0003-3080-3675Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Adaani FrostiD· 2 shared Anton Vonk NoordegraafiD· 2 shared Barbara Girerd· 2 shared Carmen Treacy· 2 shared Charles D. BurgeriD· 2 shared Christopher F. BarnettiD· 2 shared Christopher J. RhodesiD· 2 shared Colin ChurchiD· 2 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetics

Adaani FrostORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

GeneticsGenome MedicinePeer-reviewedMay 10, 2021

Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH

Na Zhu, Emilia M. Swietlik, Carrie L. Welch…·National Cohort Study of Idiopathic and Heritable PAH

This study identifies two new PAH risk genes, FBLN2 and PDGFD, through rare variant analysis of 4,241 PAH cases, with de novo variants contributing to ~15% of pediatric IPAH.

84 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsThe Lancet Respiratory MedicinePeer-reviewedDec 5, 2018

Genetic determinants of risk and survival in pulmonary arterial hypertension

Christopher J. Rhodes, Ken Batai, Marta Bleda…·Quinten Waisfisz

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.

212 citations

humanGWAS summary statistics

𝕏 PostBluesky