Author

Jennifer M. Martin

University of CambridgeORCID 0000-0002-7697-7438Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Approach:Bayesian inference· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

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 David Gerard KielyiD· 3 shared David MontaniiD· 3 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Allan LawrieORCID

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Author profile →

3 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

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Stefan Gräf, Matthias Haimel, Marta Bleda, Charaka Hadinnapola, Laura Southgate, Wei Li, Joshua Hodgson, Bin Liu, Richard M. Salmon, Mark R. Southwood, Rajiv D. Machado, Jennifer M. Martin, Carmen Treacy, Katherine Yates, Louise C. Daugherty, , Nicholas W. Morrell

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

Nature Communications · Apr 11, 2018Peer-reviewedGenetics