Author

Emma Hobson

Chapel Allerton 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 Assay:ATAC-seq· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Assay:proteomics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Pradeep C. VasudevaniD· 2 shared Alba Sanchis‐JuaniD· 1 shared Alejandro SifrimiD· 1 shared Alexandrea F. Wadley· 1 shared Aliza Imam· 1 shared Alyssa Gates· 1 shared Amy McTagueiD· 1 shared Angus John ClarkeiD· 1 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Pradeep C. VasudevanORCID

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3 papers

Recent·Most cited

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder

James Lambton, Shotaro Asano, Yuxiang Huang, Fumi Suomi, Tomoya Eguchi, Cassidy Petree, Kevin Huang, Magali Prigent, Aliza Imam, Thomas J. McCorvie, Daniel Warren, Emma Hobson, Helen McCullagh, Doriana Misceo, Anna Kristina Bjerre, , Robert William Taylor

The paper identifies bi-allelic ATG12 variants causing a neurodevelopmental disorder by impairing autophagy, with clinical and functional evidence from patient cells, yeast, and zebrafish models.

The American Journal of Human Genetics · Mar 26, 2026Peer-reviewedGenetic & Genomic Medicine

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy E Barwick, Michaela Veronika Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus John Clarke, Patrick Devine, Sandra C. Donkervoort, Jamie L. Fraser, , Konrad Platzer

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

Genetics in Medicine · Dec 9, 2020Peer-reviewedGenetic & Genomic Medicine

Detection of structural mosaicism from targeted and whole-genome sequencing data

Daniel A King, Alejandro Sifrim, Tomas W. Fitzgerald, Raheleh Rahbari, Emma Hobson, Tessa Homfray, Sahar Mansour, Sarju G. Mehta, Mohammed Shehla, Susan E. Tomkins, Pradeep C. Vasudevan, Matthew E. Hurles, The Deciphering Developmental Disorders Study

The paper introduces MrMosaic, a method to detect structural mosaicism using sequencing data, finding that blood-only testing misses over 50% of mosaic rearrangements.

Genome Research · Aug 30, 2017Peer-reviewedGenomics