Author

Jo M. Wilmshurst

University of Cape TownORCID 0000-0001-7328-1796Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Approach:experimental assay· 1 Organism:human· 1 Organism:rat· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Richard Joseph BurmaniD· 2 shared Aishwarya RamamurthyiD· 1 shared Alexandru CaliniD· 1 shared Alina Izabela EsterhuizeniD· 1 shared Andrew J. TrevelyaniD· 1 shared Aparna RadhakrishnaniD· 1 shared Arieh Anthony KatziD· 1 shared Betselote Mekonnen· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Richard Joseph BurmanORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedDec 8, 2022

Precision medicine for developmental and epileptic encephalopathies in Africa: strategies for a resource-limited setting.

Alina Izabela Esterhuizen, Nicki Tiffin, Gillian Tracy Riordan…·Gemma L. Carvill

The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.

16 citations

humanwhole-exome sequencing

𝕏 PostBluesky

NeuroscienceBrainPeer-reviewedSep 5, 2019

Excitatory GABAergic signalling is associated with acquired benzodiazepine resistance in status epilepticus

Richard Joseph Burman, Joshua S Selfe, John Hamin Lee…·Joseph V. Raimondo

The paper investigates the cellular mechanisms of benzodiazepine resistance in status epilepticus, finding that persistent high intraneuronal chloride levels contribute to reduced GABAA receptor function and enhanced epileptiform activity.

107 citationstop 1%

ratelectronic health records

𝕏 PostBluesky