Author

Laura Rufibach

Jain FoundationORCID 0000-0001-8208-0574Unclaimed 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 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Akanchha KesariiD· 1 shared Alassane Baneye MaīgaiD· 1 shared Amanda R. ClauseiD· 1 shared Amrit SinghiD· 1 shared April KennedyiD· 1 shared Autumn Self· 1 shared Bradley Williams· 1 shared Brooke Palus· 1 shared

Activity by Year

2024-2026 · peak 1/yr

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10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

Akanchha KesariORCID

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintJan 6, 2026

Circulating miR-4532 is associated with loss of ambulation in dysferlinopathy

Tajveer Singh Grewal, Zsuzsanna Hollander, Darlene L. Y. Dai…·Amrit Singh

The paper identifies miR-4532 as a circulating miRNA associated with ambulatory status in dysferlinopathy, showing differential expression between ambulatory and non-ambulatory patients.

DOI 10.64898/2026.01.05.697793

humanbulk RNA-seq

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GeneticsAnnals of Clinical and Translational NeurologyPeer-reviewedAug 30, 2024

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

Shruthi Mohan, Shannon M. McNulty, Courtney Thaxton…·Conrad Chris Weihl

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

4 citations

humanstatistical model

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