E
Eddie Park
Researcher at Children's Hospital of Philadelphia
Publications - 15
Citations - 7929
Eddie Park is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: RNA & Gene. The author has an hindex of 9, co-authored 14 publications receiving 7202 citations. Previous affiliations of Eddie Park include University of California, Irvine & University of California, Berkeley.
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Journal ArticleDOI
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Mariella Simon,Elodie Richard,Xinjian Wang,Mohsin Shahzad,Vincent Huang,Tanveer A. Qaiser,Prasanth Potluri,Sarah E. Mahl,Antonio Davila,Sabiha Nazli,Saege Hancock,Margret Yu,J. Jay Gargus,Richard Chang,Nada Al-Sheqaih,William G. Newman,Jose E. Abdenur,Arnold Starr,Rashmi S. Hegde,Thomas Dorn,Anke Busch,Eddie Park,Jie Wu,Hagen Schwenzer,Adrian Flierl,Catherine Florentz,Marie Sissler,Shaheen N. Khan,Ronghua Li,Min-Xin Guan,Thomas B. Friedman,Doris K. Wu,Vincent Procaccio,Sheikh Riazuddin,Douglas C. Wallace,Zubair M. Ahmed,Taosheng Huang,Saima Riazuddin +37 more
TL;DR: These findings establish lesions in NARS2 as a new cause for nonsyndromic hearing loss and Leigh syndrome and demonstrate decreased steady-state levels of mt-tRNAAsn in fibroblasts from the Leigh syndrome patients.
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Population and allelic variation of A-to-I RNA editing in human transcriptomes
TL;DR: This study reveals widespread cis variation in RNA editing among genetically distinct individuals and sheds light on possible phenotypic consequences of such variation on complex traits and diseases.
Journal ArticleDOI
A panoramic view of RNA modifications: exploring new frontiers.
TL;DR: This meeting report on the Cold Spring Harbor Asia conference on RNA Modifications and Epitranscriptomics, held in Suzhou, China, 13–17 November, 2017, describes the research presented at this conference and some of the main findings were described.
Journal ArticleDOI
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome
Mariella Simon,Elodie Richard,Xinjian Wang,Mohsin Shahzad,Vincent Huang,Tanveer A. Qaiser,Prasanth Potluri,Sarah E. Mahl,Antonio Davila,Sabiha Nazli,Saege Hancock,Margret Yu,Jay Gargus,Richard Chang,Nada Al-Sheqaih,William G. Newman,Jose E. Abdenur,Arnold Starr,Rashmi S. Hegde,Thomas Dorn,Anke Busch,Eddie Park,Jie Wu,Hagen Schwenzer,Adrian Flierl,Catherine Florentz,Marie Sissler,Shaheen N. Khan,Ronghua Li,Min-Xin Guan,Thomas B. Friedman,Doris K. Wu,Vincent Procaccio,Sheikh Riazuddin,Douglas C. Wallace,Zubair M. Ahmed,Saima Riazuddin,Taosheng Huang +37 more
Journal ArticleDOI
Genetic variation and microRNA targeting of A-to-I RNA editing fine tune human tissue transcriptomes.
TL;DR: In this paper, an RNA editing quantitative trait loci (edQTL) mapping approach was used to identify 3117 unique RNA editing events associated with a cis genetic polymorphism.