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Susan M. Kelly

Lurie Children's Hospital

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Genetics· 1

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

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

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Christopher M. GrochowskiORCID

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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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