Author

Chelsea Bender

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

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Genetic & Genomic Medicine· 2 Developmental Biology· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:mouse· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Organism:human· 1 Assay:multiome· 1

Frequent Co-Authors

Bin GuaniD· 4 shared Robert B. HufnageliD· 4 shared Amelia NaikiD· 3 shared Brian P. BrooksiD· 3 shared Delphine BlainiD· 3 shared Gavin ArnoiD· 3 shared David M. McGaugheyiD· 2 shared Elangovan BoobalaniD· 2 shared

Activity by Year

2022-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Bin GuanORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome

Uma M Neelathi, Ehsan Ullah, Aman George, Mara I Maftei, Elangovan Boobalan, Daniel Sanchez-Mendoza, Chloe Adams, David M. McGaughey, Yuri V. Sergeev, Ranya Al Rawi, Amelia Naik, Chelsea Bender, Irene Hussels Maumenee, Michel Michaelides, Tun Giap Tan, , Brian P. Brooks

This study identifies six rare variants in NR6A1 in six families with oculo-vertebral-renal syndrome, demonstrating their pathogenicity through in silico, cellular, and zebrafish experiments.

Nature Communications · Jul 3, 2025Peer-reviewedGenetic & Genomic Medicine

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

Zfp503/Nlz2 is Required for RPE Differentiation and Optic Fissure Closure

Elangovan Boobalan, A. Thompson, Ramakrishna P. Alur, David M. McGaughey, Lijin Dong, Grace C. Shih, Emile R. Vieta-Ferrer, Ighovie F. Onojafe, Vijay K. Kalaskar, Gavin Arno, Andrew John Lotery, Bin Guan, Chelsea Bender, Omar Memon, Lauren Brinster, , Brian P. Brooks

The paper shows that Zfp503 is essential for RPE differentiation and optic fissure closure, with loss of function leading to uveal coloboma and altered gene expression in developing mouse eyes.

Investigative Ophthalmology & Visual Science · Nov 3, 2022Peer-reviewedDevelopmental Biology