Author

Robert A. Cusick

Children's Hospital & Medical Center

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:variant calling· 1

Frequent Co-Authors

Amy J. Wagner· 2 shared Brad W. WarneriD· 2 shared Dai H. ChungiD· 2 shared Douglas A. Potoka· 2 shared Foong‐Yen Y. LimiD· 2 shared Frances A. HighiD· 2 shared George B. MychaliskaiD· 2 shared Guðrún AspelundiD· 2 shared

Activity by Year

2017-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Amy J. Wagner

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedSep 20, 2021

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 and ALYREF as new candidate risk genes

Lu Qiao, Le Xu, Lan Yu…·Wendy K. Chung

The paper identifies LONP1 and ALYREF as new candidate risk genes for congenital diaphragmatic hernia through de novo and ultra-rare variant analyses in proband-parent trios and population controls.

51 citationstop 2%

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintNov 12, 2017

Genetic analysis of de novo variants reveals sex differences in complex and isolated congenital diaphragmatic hernia and indicates MYRF as a candidate gene

Hongjian Qi, Lan Yu, Xueya Zhou…·Yufeng Shen

The paper analyzes de novo variants in congenital diaphragmatic hernia cases to identify sex differences and a new candidate gene MYRF.

4 citations

humanwhole-exome sequencing

𝕏 PostBluesky