Author

Jacob Hagen

Columbia University Irving Medical Center

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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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aaron M. ZorniD· 1 shared Adaani FrostiD· 1 shared Adhish Kashyap· 1 shared Alan P. KennyiD· 1 shared Allan LawrieiD· 1 shared Andrew J. SwiftiD· 1 shared Ankit A. DesaiiD· 1 shared Anna W. Coleman· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aaron M. ZornORCID

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2 papers

Recent·Most cited

Identification and validation of novel candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas

Guojie Zhong, Priyanka R. Ahimaz, Nicole A. Edwards, Jacob Hagen, Christophe C. Faure, Lu Qiao, Paul S. Kingma, William Middlesworth, Julie Khlevner, Mahmoud M. A. Elfiky, David T. Schindel, Elizabeth Fialkowski, Adhish Kashyap, Sophia Forlenza, Alan P. Kenny, , Wendy K. Chung

The paper identifies novel risk genes associated with EA/TEF through whole genome sequencing and functional validation using CRISPR-Cas9 in Xenopus.

Human Genetics and Genomics Advances · Apr 16, 2022Peer-reviewedGenetic & Genomic Medicine

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