Author

John Wharton

Imperial College LondonORCID 0000-0001-8110-2575Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 3 Cell Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:differential expression· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Approach:Bayesian inference· 1 Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1

Frequent Co-Authors

Luke HowardiD· 4 shared Martin R. WilkinsiD· 4 shared Allan LawrieiD· 3 shared Anton Vonk NoordegraafiD· 3 shared Barbara Girerd· 3 shared Carmen Treacy· 3 shared Christopher J. RhodesiD· 3 shared Colin ChurchiD· 3 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetics

Luke HowardORCID

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4 papers

Recent·Most cited

Cell BiologyCardiovascular ResearchPeer-reviewedApr 12, 2024

ATP13A3 Variants Promote Pulmonary Arterial Hypertension by Disrupting Polyamine Transport

Bin Liu, Mujahid Azfar, Ekaterina Legchenko…·Paul D. Upton

This study identifies ATP13A3 as a polyamine transporter whose deficiency leads to endothelial dysfunction and pulmonary arterial hypertension.

24 citationstop 3%

humanproteomics

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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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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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