Author

Lein Dofash

The University of Western AustraliaORCID 0000-0002-4381-1909Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:protein structure prediction· 1

Frequent Co-Authors

Eloy RivasiD· 2 shared Gianina RavenscroftiD· 2 shared Joshua S. ClaytoniD· 2 shared Macarena Cabrera‐SerranoiD· 2 shared Nigel G. LaingiD· 2 shared Rhonda L. TayloriD· 2 shared Alison RodgeriD· 1 shared Brian E. Mangilog· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Eloy RivasORCID

Mutual co-authors in cluster

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2 papers

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

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

Lein Dofash, Gavin Monahan, Emilia Servián‐Morilla, Eloy Rivas, Fathimath Faiz, Patricia A. Sullivan, Emily C. Oates, Joshua S. Clayton, Rhonda L. Taylor, Mark R. Davis, Traude Helene Beilharz, Nigel G. Laing, Macarena Cabrera‐Serrano, Gianina Ravenscroft

The paper identifies a splice-altering variant in KLHL40 causing milder NEM8, showing it leads to reduced mRNA and protein expression through aberrant splicing.

Human Molecular Genetics · Nov 2, 2022Peer-reviewedGenetic & Genomic Medicine