Author

Stefano Ghio

Policlinico San Matteo FondazioneORCID 0000-0002-1858-1152Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 4 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 4 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Approach:Bayesian inference· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Anton Vonk NoordegraafiD· 5 shared Carmen Treacy· 5 shared Christopher J. RhodesiD· 5 shared David Gerard KielyiD· 5 shared David MontaniiD· 5 shared Harm Jan BogaardiD· 5 shared Horst OlschewskiiD· 5 shared Laura SouthgateiD· 5 shared

Activity by Year

2018-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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5 shared papersGenetics

Anton Vonk NoordegraafORCID

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5 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 5, 2023

Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension

Carrie L. Welch, Micheala A. Aldred, Srimmitha Balachandar…·Dmitry A. Zateyshchikov

This paper classifies PAH-related genes based on evidence strength using a semi-quantitative scoring system, identifying twelve genes with definitive evidence and recommending their inclusion in genetic testing panels.

83 citationstop 1%

humanstatistical model

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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

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GeneticsCirculation Genomic and Precision MedicinePeer-reviewedDec 15, 2020

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

Emilia M. Swietlik, Daniel J. Greene, Na Zhu…·Rachel J. Buchan

49 citationstop 4%

humanwhole-genome sequencing

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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

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GeneticsNature CommunicationsPeer-reviewedApr 11, 2018

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Stefan Gräf, Matthias Haimel, Marta Bleda…·Nicholas W. Morrell

This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.

380 citationstop 1%

humanwhole-genome sequencing

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