Author

Tawfeg Ben‐Omran

Hamad Medical CorporationORCID 0000-0001-8522-7738Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:protein structure prediction· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Anju ShuklaiD· 1 shared Arthur S. Aylsworth· 1 shared Brit L. MartiniD· 1 shared Colby T. MarviniD· 1 shared David M. WarshawiD· 1 shared Deborah A. NickersoniD· 1 shared Emily M. TeetsiD· 1 shared Fatima Almusafri· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anju ShuklaORCID

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1 paper

Recent·Most cited

GeneticsThe American Journal of Human GeneticsPeer-reviewedJul 23, 2020

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

Jessica X. Chong, Jared Coffin Talbot, Emily M. Teets…·Michael J. Bamshad

The paper identifies mutations in MYLPF causing segmental amyoplasia with distal arthrogryposis, showing both dominant and recessive inheritance patterns and linking MYLPF impairment to muscle degeneration.

34 citations

humanzebrafish

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