Author

Samantha J. Turner

La Trobe UniversityORCID 0000-0002-7707-6228Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Assay:proteomics· 1

Frequent Co-Authors

Angela Tamsin MorganiD· 2 shared Ruth O. BradeniD· 2 shared Simon E. FisheriD· 2 shared Adam P. VogeliD· 1 shared Aglaia VignoliiD· 1 shared Alexander J.M. DingemansiD· 1 shared Alfredo BruscoiD· 1 shared Alice MoroniiD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Angela Tamsin MorganORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 1, 2022

Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

Lottie D. Morison, Elisabeth Meffert, Miriam Stampfer…·Angela Tamsin Morgan

This study characterizes 29 individuals with FOXP2 variants, showing high prevalence of speech disorders and language impairments, with relatively specific phenotypes compared to other monogenic conditions.

DOI 10.1101/2022.06.01.22275851

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMar 4, 2022

SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

Maggie M. K. Wong, Rosalie A. Kampen, Ruth O. Braden…·Simon E. Fisher

The paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.

6 citations

humanDNA methylation

𝕏 PostBluesky