Author

Nia Moore

National Institutes of Health

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Assay:multiome· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Amelia NaikiD· 2 shared Bin GuaniD· 2 shared Chelsea Bender· 2 shared Laryssa A. HuryniD· 2 shared Robert B. HufnageliD· 2 shared Aime R. Agather· 1 shared Andrea Hilary NemethiD· 1 shared Andrea Louise VincentiD· 1 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Amelia NaikORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

The qMini assay identifies an overlooked class of splice variants

Bin Guan, Chelsea Bender, Madhulatha Pantrangi, Nia Moore, Melissa J. Reeves, Amelia Naik, Huirong Li, Kerry Goetz, Delphine Blain, Aime R. Agather, Catherine A. Cukras, Wadih M. Zein, Laryssa A. Huryn, Brian P. Brooks, Robert B. Hufnagel

The qMini assay identifies a new class of splice variants that reduce mature mRNA levels without altering sequence, suggesting a novel pathogenic mechanism.

medRxiv · Nov 2, 2023 · PreprintGenetic & Genomic Medicine

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders

James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Amelia Naik, Chelsea Bender, Nia Moore, Laryssa A. Huryn, Yuri V. Sergeev, Haohua Qian, Yong Zeng, Lijin Dong, Pinghu Liu, Jingqi Lei, , Robert B. Hufnagel

The paper identifies NTE activity as a biomarker for retinopathy and endocrinopathy in PNPLA6 disorders, using clinical and preclinical data to establish a genotype-activity-phenotype relationship.

bioRxiv · Jun 9, 2023 · PreprintNeuroscience