Author

Gemma R. Brett

Royal Children's HospitalORCID 0000-0003-0133-7994Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alison G. ComptoniD· 1 shared Cas SimonsiD· 1 shared Daniella Helena HockiD· 1 shared David A. StroudiD· 1 shared David Ross ThorburniD· 1 shared Guy HelmaniD· 1 shared John ChristodoulouiD· 1 shared Lynn S. PaisiD· 1 shared

Activity by Year

2020-2020 · 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 G. ComptonORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Genetic & Genomic MedicineHuman MutationPeer-reviewedNov 10, 2020

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

Guy Helman, Alison G. Compton, Daniella Helena Hock…·Cas Simons

The paper identifies a deep intronic variant in NDUFB10 causing a cryptic exon and isolated Complex I deficiency through RNA sequencing in two affected siblings.

30 citations

humanbulk RNA-seq

𝕏 PostBluesky