Author

Safoora B. Syeda

National Institutes of HealthORCID 0009-0009-3250-6755Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Aileen Reghan FoleyiD· 1 shared Carsten G. BönnemanniD· 1 shared Katherine G. MeilleuriD· 1 shared Katherine R. ChaoiD· 1 shared Meganne E. LeachiD· 1 shared Prech UapinyoyingiD· 1 shared Rotem OrbachiD· 1 shared Sandra C. DonkervoortiD· 1 shared

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2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aileen Reghan FoleyORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedSep 23, 2024

Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation

Sarah Silverstein, Rotem Orbach, Safoora B. Syeda…·Carsten G. Bönnemann

The paper reports two patients with NEB-related congenital myopathy and describes how differential inclusion of NEB exons 143 and 144 affects disease manifestation and MRI patterns.

1 citation

humanbulk RNA-seq

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