Author

Mariam AlMulla

Hamad Medical Corporation

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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Genetics· 1

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

Co-Author Collaboration Network

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

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

Jessica X. Chong, Jared Coffin Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively, Colby T. Marvin, Arthur S. Aylsworth, Reem Saadeh‐Haddad, Ulrich A. Schatz, Francesca Inzana, Tawfeg Ben‐Omran, Fatima Almusafri, Mariam AlMulla, Kati J. Buckingham, , 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.

The American Journal of Human Genetics · Jul 23, 2020Peer-reviewedGenetics