Author

Emily Griffin

Columbia University Irving Medical CenterORCID 0000-0001-5193-2041Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Approach:experimental assay· 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

Wendy K. ChungiD· 2 shared Alexander HsiehiD· 1 shared Amanda T. Wilson· 1 shared Angela C. Tai· 1 shared Atteeq Ur RehmaniD· 1 shared Avinash AbhyankariD· 1 shared Bruce D. GelbiD· 1 shared Christine E. SeidmaniD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Wendy K. ChungORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintDec 16, 2022

Implementation of Rapid Genome Sequencing for Infants with Congenital Heart Disease

Thomas Hays, Rebecca Hernan, Michele Disco…·Wendy K. Chung

This study evaluates rapid genome sequencing in infants with congenital heart disease, finding genetic diagnoses in 27% of cases and clinical management changes in 62% of diagnosed infants.

DOI 10.1101/2022.12.16.22283479

humanwhole-genome sequencing

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BioinformaticsbioRxivPreprintAug 13, 2019

Early post-zygotic mutations contribute to congenital heart disease

Alexander Hsieh, Sarah U. Morton, Jon A. L. Willcox…·Yufeng Shen

The paper identifies mosaic mutations in blood and cardiac tissue from CHD patients, finding 1% of cases have detectable mosaic variants that may contribute to congenital heart disease.

2 citations

humanwhole-exome sequencing

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