Author

Tobias Tilly

University of Cambridge

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Allan LawrieiD· 2 shared Andrew J. SwiftiD· 2 shared Anna W. Coleman· 2 shared Anton Vonk NoordegraafiD· 2 shared Barbara Girerd· 2 shared Carmen Treacy· 2 shared Carrie L. WelchiD· 2 shared Christopher J. PenkettiD· 2 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Allan LawrieORCID

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2 papers

Recent·Most cited

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, Michael W. Pauciulo, Jacob Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, , 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.

Genome Medicine · May 10, 2021Peer-reviewedGenetics

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

Emilia M. Swietlik, Daniel J. Greene, Na Zhu, Karyn Mégy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A. Lutz, Carrie L. Welch, Michael W. Pauciulo, Laura Southgate, Jennifer M. Martin, Carmen Treacy, Christopher J. Penkett, , Rachel J. Buchan

Circulation Genomic and Precision Medicine · Dec 15, 2020Peer-reviewedGenetics