Author

Ernest Gerard Butler

Peninsula HealthORCID 0000-0003-0551-5671Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Abhishek Malhotra· 2 shared David J. SzmulewicziD· 2 shared Greta Gillies· 2 shared Haloom RafehiiD· 2 shared Justin L. Read· 2 shared Kate PopeiD· 2 shared Kathy H. C. WuiD· 2 shared Kayli C. DaviesiD· 2 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Abhishek Malhotra

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 8, 2024

Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

Haloom Rafehi, Liam G. Fearnley, Justin L. Read…·Paul J. Lockhart

This study compares short-read and long-read sequencing for diagnosing cerebellar ataxia, finding both effective but with different strengths in repeat expansion detection.

1 citation

humanwhole-genome sequencing

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedDec 8, 2022

An intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)

Haloom Rafehi, Justin L. Read, David J. Szmulewicz…·Paul J. Lockhart

This study identifies a novel intronic GAA repeat expansion in FGF14 as a cause of autosomal dominant adult-onset ataxia, with (GAA)>335 being fully penetrant and (GAA)>250 likely pathogenic.

175 citationstop 1%

humanwhole-genome sequencing

NeurosciencebioRxivPreprintAug 23, 2019

Immunotherapy prevents long-term disability in relapsing multiple sclerosis over 15 years

Tomáš Kalinčík, Sifat Sharmin, Charles Benjamin Malpas…·on behalf of the MSBase Study group

This study shows that immunotherapy reduces disability and relapses in relapsing multiple sclerosis over 15 years.

2 citations

humanstatistical model