Jana Zernant

Columbia University Irving Medical Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

38h-index7.5kcitations118works2.72yr avg
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Research Topics

Retinal Development and Disorders(90), Retinal Diseases and Treatments(68), Glaucoma and retinal disorders(18), Photoreceptor and optogenetics research(14), Cell Adhesion Molecules Research(9)

Publications118 total

Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease
Translational Vision Science & Technology·2025Open Access
Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease
2024· 1 citedOpen Access
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Biomolecules·2024· 7 citedOpen Access
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
Human Genetics and Genomics Advances·2023· 12 citedOpen Access
Insights Into <i>PROM1</i>-Macular Disease Using Multimodal Imaging
Investigative Ophthalmology & Visual Science·2023· 6 citedOpen Access
Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture
Stem Cell Research·2022· 4 citedOpen Access
A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease
JCI Insight·2022· 4 citedOpen Access
Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease
Ophthalmology Retina·2022· 2 citedOpen Access
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
PLoS Genetics·2022· 15 citedOpen Access
Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in <i>ABCA4</i>-Associated Disease
Translational Vision Science & Technology·2022· 6 citedOpen Access
A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes
JCI Insight·2021· 51 citedOpen Access
Characterization of Stargardt disease patient-derived human retinal organoids harboring the p.Gly1961Glu mutation in the ABCA4 gene
Investigative Ophthalmology & Visual Science·2021· 2 citedOpen Access
Clinical and Genetics Characterization of Hypomorphic Variants in Stargardt disease
Investigative Ophthalmology & Visual Science·2021Open Access
<i>Cis</i>-acting modifiers in the <i>ABCA4</i> locus contribute to the penetrance of the major disease-causing variant in Stargardt disease
Human Molecular Genetics·2021· 54 citedOpen Access
Reevaluating the Association of Sex With <i>ABCA4</i> Alleles in Patients With Stargardt Disease
JAMA Ophthalmology·2021· 7 citedOpen Access
Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence
Translational Vision Science & Technology·2021· 16 citedOpen Access
Do Mutations in ABCA4 Really Cause Retinitis Pigmentosa
2020
Clinical Characterization of an Extremely Mild, Late-Onset Phenotype of ABCA4 Disease
Investigative Ophthalmology & Visual Science·2020Open Access
Progressive Choriocapillaris Impairment in <i>ABCA4</i> Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy
Investigative Ophthalmology & Visual Science·2020· 8 citedOpen Access
Analysis of ABCA4 mutation spectrum in Stargardt/ABCA4 disease
2019
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Frequent Co-authors

Rando Allikmets(48), Stephen H. Tsang(21), Winston Lee(19), Janet R. Sparrow(14), R. Theodore Smith(9), Gerald A. Fishman(9), Tobias Duncker(9), Joanna E. Merriam(6), Frederick T. Collison(6), Tomas R. Burke(6), Peter Gouras(5), James R. Lupski(5), Caroline C. W. Klaver(4), Gaetano R. Barile(4), Michael Dean(4), Francesco Testa(4), Francesca Simonelli(4), Stephen H. Tsang(4), François C. Delori(4), Frans P.M. Cremers(4)