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Laryssa A. Huryn · SciRah

Researcher profile · Semantic Scholar

Laryssa A. Huryn

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Laryssa A. Huryn — researcher profile on SciRah

h-index: 20
Works: 103
Citations: 1,305

Most-cited papers

Single-cell–resolution map of human retinal pigment epithelium helps discover subpopulations with differential disease sensitivity
D. Ortolan, Ruchi Sharma, Andrei Volkov, A. Maminishkis +6 more
2022Proceedings of the National Academy of Sciences of the United States of America85 citations Open access
Semantic Scholar
Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7
Chenchen Niu, Thazha P. Prakash, Aneeza Kim, J. Quach +10 more
2018Science Translational Medicine75 citations Open access
Semantic Scholar
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
Sarah J Garnai, M. Brinkmeier, B. Emery, T. Aleman +25 more
2019PLoS Genetics74 citations Open access
Semantic Scholar
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
C. Kozycki, Shilpa Kodati, Laryssa A. Huryn, Hongying Wang +66 more
2022Annals of the Rheumatic Diseases62 citations Open access
Semantic Scholar
Intrathecal Gene Therapy for Giant Axonal Neuropathy
D. Bharucha-Goebel, Joshua J. Todd, D. Saade, G. Norato +25 more
2024New England Journal of Medicine45 citations Open access
Semantic Scholar
SCCRO promotes glioma formation and malignant progression in mice.
S. Broderick, B. Golas, Duykhanh Pham, C. Towe +9 more
2010Neoplasia44 citations Open access
Semantic Scholar
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
L. Prasov, Bin Guan, Ehsan Ullah, S. Archer +19 more
2020Scientific Reports32 citations Open access
Semantic Scholar
Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients.
Haewon Jung, Jian-Fei Liu, Tao Liu, A. George +11 more
2019JCI Insight31 citations Open access
Semantic Scholar
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy
Laryssa A. Huryn, C. Kozycki, Jasmine Y Serpen, W. Zein +9 more
2022Ophthalmology (Rochester, Minn.)30 citations Open access
Semantic Scholar
Integrating adaptive optics-SLO and OCT for multimodal visualization of the human retinal pigment epithelial mosaic.
A. Bower, Tao Liu, N. Aguilera, Joanne Li +8 more
2021Biomedical Optics Express30 citations Open access
Semantic Scholar
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Linda Xu, H. Jensen, J. Johnston, E. Di Maria +13 more
2018American Journal of Human Genetics25 citations Open access
Semantic Scholar
Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis
Catherine A. Cukras, Laryssa A. Huryn, B. G. Jeffrey, Amy E. Turriff +1 more
2018Investigative Ophthalmology and Visual Science25 citations Open access
Semantic Scholar
Severity modeling of propionic acidemia using clinical and laboratory biomarkers
O. Shchelochkov, I. Manoli, P. Juneau, J. Sloan +16 more
2021Genetics in Medicine24 citations Open access
Semantic Scholar
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis
E. Schiff, M. Varela, A. Robson, K. Pierpoint +13 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics24 citations Open access
Semantic Scholar
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature
M. Varela, Priyam Jani, W. Zein, Precilla D'Souza +7 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics23 citations Open access
Semantic Scholar
DICER1 Syndrome: Characterization of the ocular phenotype in a family-based cohort study
Laryssa A. Huryn, Amy E. Turriff, Laura A. Harney, Ann G. Carr +9 more
2018Ophthalmology (Rochester, Minn.)23 citations Open access
Semantic Scholar
Combining multimodal adaptive optics imaging and angiography improves visualization of human eyes with cellular-level resolution
Haewon Jung, Tao Liu, Jian-Fei Liu, Laryssa A. Huryn +1 more
2018Communications Biology21 citations Open access
Semantic Scholar
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates
M. Pfau, Catherine A. Cukras, Laryssa A. Huryn, W. Zein +9 more
2022JCI Insight20 citations Open access
Semantic Scholar
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy
T. Pfister, W. Zein, Catherine A. Cukras, H. Sen +3 more
2021Investigative Ophthalmology and Visual Science20 citations Open access
Semantic Scholar
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
H. Cope, H. Barseghyan, Surajit Bhattacharya, Yu-Long Fu +290 more
2021Molecular Genetics & Genomic Medicine19 citations Open access
Semantic Scholar
Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort
Jasmine Y Serpen, L. Prasov, W. Zein, Catherine A. Cukras +5 more
2020Journal of Ophthalmology16 citations Open access
Semantic Scholar
Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging
Tao Liu, N. Aguilera, A. Bower, Joanne Li +9 more
2022Investigative Ophthalmology and Visual Science15 citations Open access
Semantic Scholar
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics
N. Aguilera, Tao Liu, A. Bower, Joanne Li +21 more
2022Communications Biology15 citations Open access
Semantic Scholar
Defining the clinical phenotype of Saul-Wilson syndrome.
C. Ferreira, W. Zein, Laryssa A. Huryn, Andrea Merker +27 more
2020Genetics in Medicine13 citations Open access
Semantic Scholar
Mouse DCUN1D1 (SCCRO) is required for spermatogenetic individualization
Guo-Chang Huang, Andrew J. Kaufman, Russell J. H. Ryan, Y. Romin +9 more
2019PLoS ONE13 citations Open access
Semantic Scholar
Severe Bleeding with Subclinical Oculocutaneous Albinism in a Patient with a Novel HPS6 Missense Variant
C. Han, K. O'Brien, Lea M. Coon, J. Majerus +10 more
2018American Journal of Medical Genetics. Part A13 citations Open access
Semantic Scholar
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
James Liu, Yi He, Cara Lwin, Marina Han +41 more
2024Brain : a journal of neurology12 citations Open access
Semantic Scholar
Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells
Aditya Venkatesh, Taylor McKenty, Syed Ali, Donna Sonntag +17 more
2024Nucleic Acid Therapeutics12 citations Open access
Semantic Scholar
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies
Volha V. Malechka, Catherine A. Cukras, E. Chew, Y. Sergeev +7 more
2022Genes12 citations Open access
Semantic Scholar
Psychosocial Impacts of Mendelian Eye Conditions: A Systematic Literature Review.
Celeste S D'Amanda, Rosalie Nolen, Laryssa A. Huryn, Amy E. Turriff
2020Survey of ophthalmology12 citations
Semantic Scholar
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults
Malena Daich Varela, Ehsan Ullah, Saira Yousaf, B. Brooks +2 more
2020Investigative Ophthalmology and Visual Science12 citations Open access
Semantic Scholar
Ocular and Systemic Findings in Adults with Uveal Coloboma
M. Varela, Laryssa A. Huryn, R. Hufnagel, W. Zein +2 more
2020Ophthalmology (Rochester, Minn.)12 citations Open access
Semantic Scholar
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
J. Stephen, Tadafumi Yokoyama, N. Tolman, K. O'Brien +9 more
2017PLoS ONE12 citations Open access
Semantic Scholar
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study
Precilla D'Souza, Cristan Farmer, Jean M. Johnston, Sangwoo T. Han +24 more
2024medRxiv11 citations Open access
Semantic Scholar
RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15
Matthew D. Benson, Souvick Mukherjee, Aime R. Agather, D. Blain +9 more
2023Investigative Ophthalmology and Visual Science11 citations Open access
Semantic Scholar
Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy
Joanne Li, Tao Liu, Oliver J. Flynn, Amy E. Turriff +11 more
2021Frontiers in Aging Neuroscience11 citations Open access
Semantic Scholar
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study
Precilla D'Souza, Cristan Farmer, Jean M. Johnston, Sangwoo T. Han +25 more
2024Genetics in Medicine10 citations Open access
Semantic Scholar
Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia
Volha V. Malechka, D. Duong, Keyla D. Bordonada, Amy E. Turriff +10 more
2022Ophthalmology Science10 citations Open access
Semantic Scholar
Natural-History of Visual Dysfunction in ABCA4-retinopathy and its Genetic Correlates
M. Pfau, Laryssa A. Huryn, Marisa P. Boyle, Catherine A. Cukras +6 more
2023American journal of ophthalmology-glaucoma9 citations Open access
Semantic Scholar
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort
L. Prasov, Ehsan Ullah, Amy E. Turriff, B. Warner +4 more
2020American Journal of Medical Genetics. Part A9 citations Open access
Semantic Scholar
Artificial intelligence assisted clinical fluorescence imaging achieves in vivo cellular resolution comparable to adaptive optics ophthalmoscopy
Joanne Li, Jianfei Liu, Vineeta Das, H. Le +12 more
2025Communications Medicine8 citations Open access
Semantic Scholar
Visualization of erythrocyte stasis in the living human eye in health and disease
Joanne Li, Dong-Yi Wang, Jessica Pottenburgh, A. Bower +8 more
2022iScience8 citations Open access
Semantic Scholar
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity
Breanna Beers, Morgan N. Similuk, R. Ghosh, Bryce A. Seifert +32 more
2023Frontiers in Immunology7 citations Open access
Semantic Scholar
Structural integrity of retinal pigment epithelial cells in eyes with age-related scattered hypofluorescent spots on late phase indocyanine green angiography (ASHS-LIA)
Joanne Li, N. Aguilera, Tao Liu, A. Bower +9 more
2022Eye7 citations Open access
Semantic Scholar
Genotype–Phenotype Association in ABCA4-Associated Retinopathy
M. Pfau, W. Zein, Laryssa A. Huryn, Catherine A. Cukras +3 more
2023Advances in Experimental Medicine and Biology6 citations
Semantic Scholar
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome
Laryssa A. Huryn, Taylor M. Flaherty, Rosalie Nolen, L. Prasov +9 more
2022British Journal of Ophthalmology6 citations Open access
Semantic Scholar
In vivo assessment of neurodegeneration in Spinocerebellar Ataxia type 7
Jacob A. Parker, S. Merchant, Sanaz Attaripour-Isfahani, H. Cho +6 more
2020medRxiv6 citations Open access
Semantic Scholar
Considerations in multi-gene panel testing in pediatric ophthalmology
Amy E. Turriff, Catherine A. Cukras, B. Brooks, Laryssa A. Huryn
2019Journal of AAPOS6 citations Open access
Semantic Scholar
Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal Peptide.
Bin Guan, Laryssa A. Huryn, A. Hughes, Zhi-Yu Li +5 more
2022JAMA ophthalmology5 citations Open access
Semantic Scholar
Scotopic Contour Deformation Detection Reveals Early Rod Dysfunction in Age-Related Macular Degeneration With and Without Reticular Pseudodrusen
B. G. Jeffrey, Oliver J. Flynn, Laryssa A. Huryn, M. Pfau +1 more
2022Investigative Ophthalmology and Visual Science5 citations Open access
Semantic Scholar

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Catherine A. Cukras×16
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