Author

Shelagh Joss

Queen Elizabeth University Hospital

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· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1

Frequent Co-Authors

Siddharth BankaiD· 2 shared Abhijit DixitiD· 1 shared Adam G Thomas· 1 shared Adam T. HigginsiD· 1 shared Alessandro ReaiD· 1 shared Alexander J. M. BlakesiD· 1 shared Alison Foster· 1 shared Alison KrausiD· 1 shared

Activity by Year

2016-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Siddharth BankaORCID

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Author profile →

3 papers

Recent·Most cited

Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.

James Fasham, Rucha Pandit, Adam T. Higgins, Dowon Kim, Karl Austin‐Muttitt, Anna V. Derrick, Robert Gunn, Maya Matty, Nicola Ragge, Kate Chandler, Gabriela E. Jones, Mohnish Suri, Alison Kraus, Tabib A. Dabir, Katrina Stone, , Abhijit Dixit

The paper identifies novel TUBA1A variants and shows reduced penetrance of malformations of cortical development in tubulinopathies.

medRxiv · Mar 28, 2025 · PreprintGenetic & Genomic Medicine

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

Thomas B. Smith, Robert Kopajtich, Leigh A. M. Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff, Christian Beetz, Shelagh Joss, Gerard S. Conway, Anju Shukla, Mayuri Yeole, Periyasamy Radhakrishnan, Hatem Azzouz, Amel Ben Chehida, Monique Elmaleh, , William G. Newman

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

medRxiv · Aug 19, 2024 · PreprintGenetic & Genomic Medicine

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

Tarjinder Singh, Mitja I. Kurki, David Curtis, Shaun M. Purcell, Lucy Crooks, Jeremy McRae, Jaana Suvisaari, Himanshu Chheda, Douglas Blackwood, Gerome Breen, Olli Pietilainen, Sebastian S. Gerety, Muhammad Ayub, Moira Blyth, Trevor Cole, , Carmel Moo

The paper identifies rare loss-of-function variants in KMT2F associated with schizophrenia and developmental disorders, showing their role in neurodevelopmental conditions.

bioRxiv · Jan 12, 2016Genomics