Author

Emily P. McCann

Macquarie UniversityORCID 0000-0002-8200-3525Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:differential expression· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Ian P. BlairiD· 4 shared Lyndal HendeniD· 4 shared Kelly L. WilliamsiD· 3 shared Denis C. BaueriD· 2 shared Jennifer A. FifitaiD· 2 shared Natalie A. TwineiD· 2 shared Piotr SzuliD· 2 shared Ahmad Al NasseriD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Ian P. BlairORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineAmyotrophic Lateral Sclerosis and Frontotemporal DegenerationPeer-reviewedMar 10, 2023

Clinical testing panels for ALS: global distribution, consistency, and challenges

Allison Ann Dilliott, Ahmad Al Nasser, Marwa Elnagheeb…·On behalf of the Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel

The paper evaluates the variability in ALS clinical genetic testing panels globally, finding inconsistent gene inclusion and potential diagnostic challenges.

20 citations

humanGWAS summary statistics

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NeuroscienceNeuropathology and Applied NeurobiologyPeer-reviewedJul 21, 2021

SFPQ intron retention, reduced expression and aggregate formation in central nervous system tissue are pathological features of amyotrophic lateral sclerosis

Alison L. Hogan, Natalie Grima, Jennifer A. Fifita…·Ian P. Blair

This study examines SFPQ dysregulation in ALS patients, finding increased intron retention, reduced mRNA expression in motor cortex, and cytoplasmic aggregates.

25 citations

humanbulk RNA-seq

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Geneticsnpj Genomic MedicinePeer-reviewedAug 7, 2020

IBD analysis of Australian amyotrophic lateral sclerosis SOD1-mutation carriers identifies five founder events and links sporadic cases to existing ALS families

Lyndal Henden, Natalie A. Twine, Piotr Szul…·Kelly L. Williams

33 citations

humanstatistical model

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BioinformaticsbioRxivPreprintSep 24, 2019

TRIBES: A user-friendly pipeline for relatedness detection and disease gene discovery

Natalie A. Twine, Piotr Szul, Lyndal Henden…·Denis C. Bauer

TRIBES detects genomic relatedness up to 7th degree relatives and identifies disease susceptibility loci using a single pipeline.

10 citations

humanwhole-genome sequencing

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