Author

Guðrún Aspelund

Columbia University Irving Medical CenterORCID 0000-0001-5279-869XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Julia WynniD· 3 shared Lan YuiD· 3 shared Wendy K. ChungiD· 3 shared Yufeng SheniD· 3 shared Amy J. Wagner· 2 shared Brad W. WarneriD· 2 shared Dai H. ChungiD· 2 shared Douglas A. Potoka· 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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3 shared papersGenetics

Julia WynnORCID

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3 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

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GeneticsHuman Genetics and Genomics AdvancesPeer-reviewedAug 25, 2020

Deep whole genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias

Eric L. Bogenschutz, Zac D Fox, Andrew Farrell…·Gabrielle Kardon

The paper uses deep whole genome sequencing to analyze genetic variants in CDH patients and their families, revealing heterogeneous and multifactorial genetic etiology.

13 citations

humanwhole-genome 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