Publications by authors named "Chelsea Bender"

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Variants in NR6A1 cause a novel oculo vertebral renal syndrome.
Uma M Neelathi, Ehsan Ullah, Aman George, Mara I Maftei, Elangovan Boobalan, Chelsea Bender

Nat Commun· July 2025

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FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma.
William Presley, Su Qing Wang, Bin Guan, Seong Hoon Jeong, Chelsea Bender

Invest Ophthalmol Vis Sci· July 2025

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Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.
Ehsan Ullah, Siying Lin, Jiaxiong Lu, Chelsea Bender, Andrew R Webster

JAMA Ophthalmol· November 2024

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Variants in cause a novel oculo-vertebral-renal (OVR) syndrome.
Uma M Neelathi, Ehsan Ullah, Aman George, Mara I Maftei, Elangovan Boobalan, Chelsea Bender

medRxiv· November 2024

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Variants in cause a novel oculo-vertebral-renal (OVR) syndrome.
Uma M Neelathi, Ehsan Ullah, Aman George, Mara I Maftei, Elangovan Boobalan, Chelsea Bender

Res Sq· November 2024

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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Chelsea Bender

Brain· June 2024

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The qMini assay identifies an overlooked class of splice variants.
Bin Guan, Chelsea Bender, Madhulatha Pantrangi, Nia Moore, Melissa Reeves

medRxiv· November 2023

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Neuropathy target esterase activity predicts retinopathy among disorders.
James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Chelsea Bender

bioRxiv· June 2023

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Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure.
Elangovan Boobalan, Amy H Thompson, Ramakrishna P Alur, David M McGaughey, Lijin Dong, Chelsea Bender

Invest Ophthalmol Vis Sci· November 2022

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Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.
Nancy Aguilera, Tao Liu, Andrew J Bower, Joanne Li, Sarah Abouassali, Chelsea Bender

Commun Biol· September 2022

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Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal Peptide.
Bin Guan, Laryssa A Huryn, Andrew B Hughes, Zhiyu Li, Chelsea Bender

JAMA Ophthalmol· July 2022

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Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Chelsea Bender, Elizabeth Geena Woo, Bin Guan, Ehsan Ullah, Eric Feng

Genes (Basel)· April 2022

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Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa.
Trisha Lal, Zu-Xi Yu, Bin Guan, Chelsea Bender, Chi-Chao Chan

JAMA Ophthalmol· September 2021

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Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.
Kerry E Goetz, Melissa J Reeves, Shaina Gagadam, Delphine Blain, Chelsea Bender

Am J Med Genet C Semin Med Genet· September 2020

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