Publications

2024

Stacey AW, Nakamichi K, Huey J, Stevens J, Waligorski N, Crotty EE, Van Gelder RN, Mustafi D. Prognostic importance of direct assignment of parent-of-origin via long-read genome and epigenome sequencing in retinoblastoma. In Press 2024.


Uner OE, Elsharawi E, Reynolds M, Bacci GM, Bargiacchi S, Birch DG, Chen FK, Jain N, Heath Jeffery RC, Lamey TM, Mustafi D, da Palma MM, Ferraz Sallum JM, Soto MT, Jones K, Yang P, Pennesi ME, Everett LA. Phosphoribosyl Pyrophosphate Synthetase 1 (PRPS1) Associated Retinal Degeneration: An International Study. In Press 2024


Yanagihara R, Mustafi D, Huang LC. Cytomegalovirus retinitis response in an adolescent treated with systemic maribavir. Ophthalmology. 2024 Nov 4:S0161-6420(24)00603-1. PMID: 39503661. [Pubmed] [PDF]


Nakamichi K, Huey J, Sangermano R, Place EM, Bujakowska KM, Marra M, Everett LA, Yang P, Chao JR, Van Gelder RN, Mustafi D. Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics. JCI Insight. 2024 Sep 12:e183902. doi: 10.1172/jci.insight.183902. PMID: 39264853. [Pubmed] [PDF]


Wendel B, Pandiyan VP, Liu T, Jiang X, Lassoued A, Slezak S, Schleuffer S, Tutem WS, Mustafi D, Chao JR, Sabesan R. Multi-modal high-resolution imaging in retinitis pigmentosa: a comparison between optoretinography, cone density and visual sensitivity. IOVS. 2024 Aug 1;65(10):45. PMID: 39207297. [Pubmed] [PDF]


Huey J, Gupta P, Wendel B, Liu T, Bharadwaj P, Schwartz H, Kelly JP, Chang I, Chao JR, Sabesan R, Nagiel A, Mustafi D. Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-resolution Imaging as a Marker of Retinal Disease. Ophthalmology Science. In Press: doi.org/10.1016/j.xops.2024.100560.


Sawyer C, Huang LC, Vincent J, Cabrera MT, Herlihy E, Mustafi D. Diagnostic Role of Oral Fluorescein Angiography in Pediatric Ambulatory Clinics. Ophthalmology Retina, 2024 Feb;8(2):204-206. PMID: 39491131.[Pubmed] [PDF]


Mustafi D, Huang J, Ting MA, Waligorski N, Stacey AW, Huang LC. Successful treatment response of a juxtapapillary retinal capillary hemangioblastoma due to von Hippel-Lindau with Belzutifan in a pediatric patient. Retina, 2024 May 1;44(5):e31-e33. [Pubmed] [PDF]


2023


Gupta P, Nakamichi K, Bonnell AC, Yanagihara R, Radulovich N, Hisaka F, Chao JR, Mustafi D. Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases. NPJ Genomic Medicine, 2023, 8(20): doi: 10.1038/s41525-023-00366-9. PMID: 37558662. [Pubmed] [PDF]


Huey J, Mustafi D.  Order Genetic Testing Like a Pro: The importance of understanding various testing platforms for inherited retinal diseases. Retina Today. [PDF]


Nakamichi K, Van Gelder RN, Chao  JR, Mustafi D. Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients. Scientific Reports, 2023,3(1):8535. PMID: 37237007. [PubMed] [PDF]


Yang P, Mustafi D, Pepple KL. Immunology of Retinitis Pigmentosa and Gene Therapy-Associated Uveitis. Cold Spring Harb Perspect Med, 2023. PMID: 37037600. [Pubmed] [PDF]


Mustafi D, Chao JR. Re: Yahya et al.: Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene. Ophthalmology, 2023,130(3):e9. doi: 10.1016/j.ophtha.2022.10.014. PMID: 36400609. [PubMed] [PDF]

2022

Nakamichi K, Stacey AW, Mustafi D. Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma. Ophthalmic Genet, 2022, 43(6):762-770. PMID: 36325802. [PubMed] [PDF]


Mustafi D, Bharathan SP, Calderon R, Nagiel A. Human Cellular Models for Retinal Disease: From iPSCs to Organoids. Retina, 2022, 42(10):1829-1835. PMID: 35858274. [PubMed] [PDF]


Yuan A, Mustafi D, Banitt MR, Rezaei KA. Long-term outcomes of modified glued versus flanged intrascleral haptic fixation techniques for secondary intraocular lenses. Graefe's Arch for Clin Exp Ophthalmol, 2022, 260(9): 2887-2895. PMID: 35389059. [PubMed] [PDF]


Mustafi D, Hisama FM, Huey J, Chao JR. The current state of genetic testing platforms for inherited retinal diseases. Ophthalmology Retina 2022, 6(8): 702-710. PMID: 35307606. [PubMed] [PDF]


Mustafi D, Waligorski N, Cole B, Paulson V, Crotty EE, Stacey AW. Pineoblastoma without retinal tumors in a patient with a mosaic retinoblastoma pathogenic variant. JAMA Ophthalmology 2022, 140(4): 437-439, PMID: 35297960. [PubMed] [PDF]


Mustafi D, Stacey AW. Unilateral peripheral vascular retinal disease associated with a developmental arcade vessel anomaly in adult-onset Coats' disease.  American Journal of Ophthalmology Case Reports, 2022. PMID: 35198825. [PubMed] [PDF]

2021


Mustafi D, Tom ES, Yang D. A Rare Case of Abiotrophia defectiva Bleb Associated Endophthalmitis. Retina Cases Brief Rep, 2021,17(2):186-188. PMID: 33907077. [PubMed] [PDF]


Breazzano MP, et al. Frequency of Urgent or Emergent Vitreoretinal Surgical Procedures in the United States During the COVID-19 Pandemic. JAMA Ophthalmology, 2021, 139(4): 455-463. PMID: 33662093. [PubMed] [PDF]


Mustafi D, Tom E, Messenger WB, Banitt MR, Rezaei KA.  Outcomes of sutureless secondary intraocular lens fixation with haptic flanging in a cohort of surgically complex eyes. Graefe's Arch for Clin Exp Ophthalmol, 2021, 259(5): 1357-1363. PMID: 32945937. [PubMed] [PDF]

2020


Green KM, Toy BC, Ashimatey BS, Mustafi D, Jennelle RJ, Astrahan MA, Chu Z, Wang RK, Kim J, Berry JL, Kashani AH. Quantifying Subclinical and Longitudinal Microvascular Changes Following Episcleral Plaque Brachytherapy Using Spectral Domain-Optical Coherence Tomography Angiography. Journal of Vitreoretinal Disease, 2020, 4(6): 499-508. PMID: 33409441. [PubMed] [PDF]


Van Brummen A, Mustafi D, Chee YE. Focal retinal ischemia revealed by multi-modal imaging after traumatic partial optic nerve avulsion. Retina Cases and Brief Reports, 2020 Dec 21. PMID: 3339495. [PubMed] [PDF]


Mustafi D, Saraf SS, Shen J, Wang R, Olmos De Koo L. New developments in angiography for the diagnosis and management of diabetic retinopathy. Diabetes Research and Clinical Practice, 2020;167:108361. PMID: 32745697. [PubMed] [PDF]


Mustafi D, Lee AY. Exploring Artificial Intelligence in Retina. Retina Times, 2020, 38(3): 44-47. [PDF]


Mustafi D, Rao NR, Toy BC. Multimodal imaging reveals pathological edges of disease activity in tuberculosis-associated multifocal serpiginoid chorioiditis. American Journal of Ophthalmology Case Reports, 2020, 19: 100766. PMID: 32548335. [PubMed] [PDF]


Mustafi D, Do BK, Rodger DC, Rao NR. Relationship of Epiretinal Membrane Formation and Macular Edema Development in a Large Cohort of Uveitic Eyes. Ocular Immunology and Inflammation, 2020, Jan 21: 1-7. PMID: 31961201. [PubMed] [PDF]

2018


Mustafi D, Damato B, Berry JL. Multifocal unilateral choroidal melanoma. Ocular Oncology and Pathology, 2018, 4: 48-51. PMID: 29344499. [PubMed] [PDF]

2016


Mustafi D, Kevany BM, Bai X, Golczak M, Adams MD, Wynshaw-Boris A, Palczewski K. Transcriptome analysis reveals rod/cone photoreceptor specific signatures across mammalian retinas. Human Molecular Genetics, 2016, 25(20): 4376-4388. PMID: 28172828. [PubMed] [PDF]

2014


Mustafi D, Kikano S, Palczewski K. Serial Block Face-Scanning Electron Microscopy: A Method to Study Retinal Degenerative Phenotypes. Current Protocols in Mouse Biology, 2014, 4(4): 197-204. PMID: 25621191. [PubMed] [PDF]


Sundermeier TR, Jin H, Kleinjan ML, Mustafi D, Licatalosi DD, Palczewski K. Argonaute high-throughput sequencing of RNAs isolated by cross-linking immunoprecipitation reveals a snapshot of miRNA gene regulation in the mammalian retina. Biochemistry, 2014, 53(37):5831-5833. PMID: 25204418. [PubMed] [PDF]


Sundermeier TR, Zhang N, Vinberg F, Mustafi D, Kohno H, Golczak M, Bai X, Maeda A, Kefalov VJ, Palczewski K. Dicer1 is essential for survival of postmitotic rod photoreceptor cells in mice. FASEB Journal, 2014, 28(8): 3780-91. PMID: 24812086. [PubMed] [PDF]


Sundermeier TR, Vinberg F, Mustafi D, Bai X, Kefalov VJ, Palczewski K. R9AP overexpression alters phototransduction kinetics in iCre75 mice. Investigative Ophthalmology & Visual Science, 2014, 55(3):1339- 47. PMID: 24526444. [PubMed] [PDF]

2013


Chen Y, Palczewska G, Mustafi D, Golczak M, Dong Z, Sawada O, Maeda T, Maeda A, Palczewski K. Systems pharmacology identifies drug targets for Stargardt disease-associated retinal degeneration. The Journal of Clinical Investigation, 2013, 123(12): 5119-5134. PMID: 24231350. [PubMed] [PDF]


Mustafi D, Kevany BM, Genoud C, Bai X, Palczewski K. Photoreceptor phagocytosis is mediated by phosphoinositide signaling. FASEB Journal, 2013, 27(11): 4585-4595. PMID: 23913857. [PubMed] [PDF]


Mustafi D, Kevany BM, Bai X, Maeda T, Sears JE, Khalil AM, Palczewski K. Evolutionarily conserved long intergenic non-coding RNAs in the eye. Human Molecular Genetics, 2013, 22(15):2992-3002. PMID: 23562822. [PubMed] [PDF]


Zhang N, Kolesnikov AV, Jastrzebska B, Mustafi D, Sawada O, Maeda T, Genoud C, Engel A, Kefalov VJ, and Palczewski K. Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization. The Journal of Clinical Investigation, 2013, 123(1): 121-137. PMID: 23221340. [PubMed] [PDF]

2012


Mustafi D, Maeda T, Kohno H, Nadeau JH, Palczewski K. Inflammatory priming predisposes mice to age-related retinal degeneration. The Journal of Clinical Investigation, 2012, 122(8):2989-3001. PMID: 22797304. [PubMed] [PDF]

2011


Mustafi D, Kevany BM, Genoud C, Okano K, Cideciyan AV, Sumaroka A, Roman AJ, Jacobson SG, Engel A, Adams MD, Palczewski K. Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. FASEB Journal, 2011, 25(9): 3157-3176. PMID: 21659555. [PubMed] [PDF]


Mustafi D, Avishai A, Avishai N, Engel A, Heuer A, Palczewski K. Serial sectioning for examination of photoreceptor cell architecture by focused ion beam technology. Journal of Neuroscience Methods, 2011, 198: 70-76. PMID: 21439323. [PubMed] [PDF]

2009


Mustafi D, Engel AH, Palczewski K. Structure of Cone Photoreceptors. Progress in Retinal and Eye Research, 2009, 28: 289-302. PMID: 19501669. [PubMed] [PDF]


Mustafi D and Palczewski K. Topology of class A G protein-coupled receptors: insights gained from crystal structures of rhodopsins, adrenergic and adenosine receptors. Molecular Pharmacology, 2009, 75: 1-12. PMID: 18945819. [PubMed] [PDF]

2006


Li L, Mustafi D, Fu Q, Tereshko T, Chen DL, Tice JD, and Ismagilov RF, Nanoliter Microfluidic Hybrid Method for Simultaneous Screening and Optimization Validated with Crystallization of Membrane Proteins. Proceedings of the National Academy of Sciences, 2006, 103, 19243-19248. PMID: 17159147. [PubMed] [PDF]


Adamson DN, Mustafi D, Zhang JXJ, Zheng B, and Ismagilov RF. Production of Arrays of Chemically Distinct Nanoliter Plugs via Repeated Splitting in Microfluidic Devices. Lab on a Chip, 2006, 6, 11781186. PMID: 16929397. [PubMed] [PDF]

2005


Tezcan FA, Kaiser JT, Mustafi D, Walton MY, Howard JB, and Rees DC, Nitrogenase Complexes: Multiple Docking Sites for a Nucleotide Switch Protein, Science, 2005, 309 (5739), 1377-1380. PMID: 16123301. [PubMed] [PDF]