Author

Robin A Condliffe

Royal Hallamshire HospitalORCID 0000-0002-3492-4143Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 3 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 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

Allan LawrieiD· 4 shared Anton Vonk NoordegraafiD· 4 shared Carmen Treacy· 4 shared Christopher J. RhodesiD· 4 shared David Gerard KielyiD· 4 shared David MontaniiD· 4 shared Emilia M. SwietlikiD· 4 shared Harm Jan BogaardiD· 4 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetics

Allan LawrieORCID

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4 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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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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