Author

Kathleen M. Loomes

Children's Hospital of PhiladelphiaORCID 0000-0002-1539-6672Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Christopher M. GrochowskiiD· 1 shared Ellen A. TsaiiD· 1 shared Marcella DevotoiD· 1 shared Nancy Bettina SpinneriD· 1 shared Ramakrishnan RajagopalaniD· 1 shared Susan M. Kelly· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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6 top collaborators · 15 mutual co-author links

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1 shared paperGenetics

Christopher M. GrochowskiORCID

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1 paper

Recent·Most cited

GeneticsScientific ReportsPeer-reviewedFeb 17, 2020

Exome Sequencing in Individuals with Isolated Biliary Atresia

Ramakrishnan Rajagopalan, Ellen A. Tsai, Christopher M. Grochowski…·Marcella Devoto

This study performs exome sequencing in 100 patients with isolated biliary atresia to identify genetic variants, finding no common causal genes but a de novo mutation in STIP1.

24 citationstop 5%

humanwhole-exome sequencing

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