Author

Rita J Serrano

Monash University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Research Focus:protein structure prediction· 1 Assay:proteomics· 1 Assay:spatial transcriptomics· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alison RodgeriD· 1 shared Brian E. Mangilog· 1 shared Carmen ParadasiD· 1 shared Carsten G. BönnemanniD· 1 shared Chiara FiorilloiD· 1 shared Chiara L FollandiD· 1 shared Claudio BrunoiD· 1 shared Daniella Helena HockiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Alison RodgerORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

Lein Dofash, Lee B. Miles, Yoshihiko Saito, Eloy Rivas, Vanessa Calcinotto, Sara Oveissi, Rita J Serrano, Rachel Templin, Georg Ramm, Alison Rodger, Joel Haywood, Evan Ingley, Joshua S. Clayton, Rhonda L. Taylor, Chiara L Folland, , Gianina Ravenscroft

This study identifies biallelic HMGCS1 variants as a novel cause of rigid spine syndrome, showing hypomorphic effects through functional and clinical analyses.

medRxiv · Oct 25, 2023 · PreprintGenetic & Genomic Medicine