Author

Evan Ingley

The University of Western AustraliaORCID 0000-0002-8112-9134Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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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

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1 shared paperGenetic & Genomic Medicine

Alison RodgerORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 25, 2023

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

Lein Dofash, Lee B. Miles, Yoshihiko Saito…·Gianina Ravenscroft

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

3 citations

humanzebrafish

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