Author

Arthur S. Aylsworth

University of North Carolina at Chapel Hill

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:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:protein structure prediction· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Colby T. MarviniD· 2 shared Jessica X. ChongiD· 2 shared Kathryn M. Shively· 2 shared Kati J. BuckinghamiD· 2 shared Michael J. BamshadiD· 2 shared Angela MarcelloiD· 1 shared Anju ShuklaiD· 1 shared Brit L. MartiniD· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Colby T. MarvinORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Angela Marcello, Hernan Dario Gonorazky, Lili‐Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Ángel Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, , Michael J. Bamshad

The paper identifies heterozygous missense variants in ACTC1 as the cause of distal arthrogryposis with congenital heart defects in five families.

Human Genetics and Genomics Advances · Jun 16, 2023Peer-reviewedGenetic & Genomic Medicine

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