Genetic & Genomic MedicinemedRxivPreprint
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS
Tess D. Pottinger, Joshua E. Motelow, Gundula Povysil…·Matthew B. Harms
4 citations
Author
Cristiane Araújo Martins Moreno
Universidade de São PauloORCID 0000-0002-5867-6359Unclaimed ORCID profile · follow to get notified of new preprints
Biology Disciplines
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2019-2023 · peak 2/yrCo-Author Collaboration Network
10 top collaborators · 28 mutual co-author linksFocal author (center)Selected co-authorORCID co-authorUnlinked name
Curved chords = mutual co-authorship3 shared papersGenetic & Genomic Medicine
Matthew B. HarmsORCID
Mutual co-authors in cluster
3 papers
Recent·Most cited
- Genetic & Genomic MedicineAmyotrophic Lateral Sclerosis and Frontotemporal DegenerationPeer-reviewed
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 - GeneticsGenome ResearchPeer-reviewed
Regional collapsing of rare variation implicates specific genic regions in ALS
Sahar Gelfman, Sarah A. Dugger, Cristiane Araújo Martins Moreno…·Matthew B. Harms
The paper applies two novel collapsing methods to ALS sequencing data to identify risk regions in known ALS genes and candidate genes.
26 citations