Author

Mahmoud M. A. Elfiky

Cairo UniversityORCID 0000-0003-1820-8603Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Wendy K. ChungiD· 3 shared Yufeng SheniD· 3 shared Amy J. Wagner· 2 shared Brad W. WarneriD· 2 shared Dai H. ChungiD· 2 shared David T. Schindel· 2 shared Douglas A. Potoka· 2 shared Elizabeth FialkowskiiD· 2 shared

Activity by Year

2017-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Wendy K. ChungORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedApr 16, 2022

Identification and validation of novel candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas

Guojie Zhong, Priyanka R. Ahimaz, Nicole A. Edwards…·Wendy K. Chung

The paper identifies novel risk genes associated with EA/TEF through whole genome sequencing and functional validation using CRISPR-Cas9 in Xenopus.

14 citations

humanwhole-genome sequencing

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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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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