Author

Youngha Lee

Seoul National UniversityORCID 0000-0002-3041-6088Unclaimed 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· 3 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:eQTL / molecular QTL mapping· 1

Frequent Co-Authors

Murim ChoiiD· 3 shared Taekyeong Yoo· 3 shared Anna ChoiD· 2 shared Eunha KimiD· 2 shared Hyuna KimiD· 2 shared Jaeso ChoiD· 2 shared Jana Kneissl· 2 shared Jeongeun Lee· 2 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

Murim ChoiORCID

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3 papers

Recent·Most cited

GeneticsJournal of HepatologyPeer-reviewedApr 20, 2021

Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in nonalcoholic fatty liver disease

Taekyeong Yoo, Sae Kyung Joo, Hyo Jung Kim…·Murim Choi

The paper identifies AGXT2 as a gene with an anti-fibrotic effect in NAFLD through eQTL screening and functional validation.

57 citationstop 1%

humanbulk RNA-seq

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GeneticsScientific ReportsPeer-reviewedJan 29, 2020

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

Youngha Lee, Soojin Park, Jin Sook Lee…·Jong‐Hee Chae

The paper identifies pathogenic variants in 57.5% of 553 undiagnosed neurodevelopmental patients, revealing a high proportion of recessive variants and their potential for carrier screening.

6 citations

humanwhole-exome sequencing

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GeneticsbioRxivPreprintNov 18, 2018

Comprehensive genetic analysis by whole exome sequencing in 352 Korean pediatric patients with unknown neurodevelopmental disorders

Youngha Lee, Jin Sook Lee, Soo Yeon Kim…·Jong‐Hee Chae

This study uses whole exome sequencing to diagnose 352 Korean pediatric patients with undiagnosed neurodevelopmental disorders, identifying pathogenic variants in 57.4% of cases.

2 citations

humanwhole-exome sequencing

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