Search Results - "Levi, Sarah R"

Foveolar thickness as potential standardized structural outcome measurement in studies of Bietti crystalline dystrophy by Jenny, Laura A., Liu, Pei-Kang, Kolesnikova, Masha, Duong, Jimmy, Kim, Angela H., Levi, Sarah R., Greenstein, Vivienne C., Tsang, Stephen H.

“…Bietti crystalline dystrophy (BCD) is an ultra-rare orphan disorder that can lead to blindness. Because of the variable rates of progression of the disease, it…”
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Role of Oxidative Stress in Ocular Diseases Associated with Retinal Ganglion Cells Degeneration by Kang, Eugene Yu-Chuan, Liu, Pei-Kang, Wen, Yao-Tseng, Quinn, Peter M J, Levi, Sarah R, Wang, Nan-Kai, Tsai, Rong-Kung

“…Ocular diseases associated with retinal ganglion cell (RGC) degeneration is the most common neurodegenerative disorder that causes irreversible blindness…”
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Prime Editing for Inherited Retinal Diseases by da Costa, Bruna Lopes, Levi, Sarah R, Eulau, Eric, Tsai, Yi-Ting, Quinn, Peter M J

“…Inherited retinal diseases (IRDs) are chronic, hereditary disorders that lead to progressive degeneration of the retina. Disease etiology originates from a…”
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Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results by Cho, Ahra, Lima de Carvalho, Jr, Jose Ronaldo, Tanaka, Akemi J, Jauregui, Ruben, Levi, Sarah R, Bassuk, Alexander G, Mahajan, Vinit B, Tsang, Stephen H

“…Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favored due…”
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Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series by Oh, Jin Kyun, Vargas Del Valle, José G, Lima de Carvalho, Jr, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R, Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R, Izquierdo, Natalio J, Duncan, Jacque L, Mahajan, Vinit B, Tsang, Stephen H

“…Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and…”
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Comparative Analysis of Functional and Structural Decline in Retinitis Pigmentosas by Cabral, Thiago, Lima de Carvalho, Jr, Jose Ronaldo, Kim, Joonpyo, Oh, Jin Kyun, Levi, Sarah R, Park, Karen Sophia, Duong, Jimmy K, Park, Junhyung, Boudreault, Katherine, Belfort, Jr, Rubens, Tsang, Stephen H

“…Retinitis pigmentosa (RP) is a category of inherited retinal dystrophies that is best prognosticated using electroretinography (ERG). In this retrospective…”
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Do people with hereditary cancer syndromes inform their at-risk relatives? A systematic review and meta-analysis by Ahsan, Muhammad Danyal, Levi, Sarah R., Webster, Emily M., Bergeron, Hannah, Lin, Jenny, Narayan, Priyanka, Nelson, Becky Baltich, Li, Xuan, Fowlkes, Rana K., Brewer, Jesse T., Thomas, Charlene, Christos, Paul J., Chapman-Davis, Eloise, Cantillo, Evelyn, Holcomb, Kevin, Sharaf, Ravi N., Frey, Melissa K.

“…To evaluate rates of familial disclosure of hereditary cancer syndrome information. A systematic review and meta-analysis was conducted in accordance with…”
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Mouse Models of Achromatopsia in Addressing Temporal "Point of No Return" in Gene-Therapy by Wang, Nan-Kai, Liu, Pei-Kang, Kong, Yang, Levi, Sarah R, Huang, Wan-Chun, Hsu, Chun-Wei, Wang, Hung-Hsi, Chen, Nelson, Tseng, Yun-Ju, Quinn, Peter M J, Tai, Ming-Hong, Lin, Chyuan-Sheng, Tsang, Stephen H

“…Achromatopsia is characterized by amblyopia, photophobia, nystagmus, and color blindness. Previous animal models of achromatopsia have shown promising results…”
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Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa by Oh, Jin Kyun, Lima de Carvalho, Jr, Jose Ronaldo, Sun, Young Joo, Ragi, Sara, Yang, Jing, Levi, Sarah R, Ryu, Joseph, Bassuk, Alexander G, Mahajan, Vinit B, Tsang, Stephen H

“…Mutations in the Kelch-like protein 7 (KLHL7) represent a recently described and, to date, poorly characterized etiology of inherited retinal dystrophy…”
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Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations by Lopes da Costa, Bruna, Kolesnikova, Masha, Levi, Sarah R, Cabral, Thiago, Tsang, Stephen H, Maumenee, Irene H, Quinn, Peter M J

“…Mutations in the ( ) gene lead to severe inherited retinal dystrophies (IRDs), accounting for nearly 80,000 cases worldwide. To date, there is no therapeutic…”
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Conditional Deletion of Activating Rearranged During Transfection Receptor Tyrosine Kinase Leads to Impairment of Photoreceptor Ribbon Synapses and Disrupted Visual Function in Mice by Peng, Wei-Hao, Liao, Meng-Lin, Huang, Wan-Chun, Liu, Pei-Kang, Levi, Sarah R, Tseng, Yun-Ju, Lee, Chia-Ying, Yeh, Lung-Kun, Chen, Kuan-Jen, Chien, Chung-Liang, Wang, Nan-Kai

“…The rearranged during transfection (RET) receptor tyrosine kinase plays a key role in transducing signals related to cell growth and differentiation. mutant…”
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Management and treatment of inherited retinal dystrophies by Levi, Sarah, Jenny, Laura, Tsang, Stephen

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Multimodal imaging reveals retinoschisis masquerading as retinal detachment in patients with choroideremia by Greig, Luciano C., Gutierrez, Karen G., Oh, Jin Kyun, Levi, Sarah R., Korot, Edward, Tsang, Stephen H., Mahajan, Vinit B.

“…To report three cases of retinoschisis in patients with intermediate to advanced choroideremia. Three patients were referred for evaluation of retinal…”
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CRISPR Manipulations in Stem Cell Lines by Chang, Ya-Ju, Cui, Xuan, Levi, Sarah R, Jenny, Laura A, Tsang, Stephen H

“…Insights into genome engineering in cells have allowed researchers to cultivate and modify cells as organoids that display structural and phenotypic features…”
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Metabolite Extraction from RPE Cells and Retinas Related to Retinitis Pigmentosa by Cui, Xuan, Chang, Ya-Ju, Jenny, Laura A, Levi, Sarah R, Du, Jianhai, Tsang, Stephen H

“…The application of metabolomics in ophthalmology helps to identify new biomarkers and elucidate disease mechanisms in different eye diseases, as well as aiding…”
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Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes by Ahsan, Muhammad Danyal, Webster, Emily M, Nguyen, Natalie T, Qazi, Murtaza, Levi, Sarah R, Diamond, Lisa C, Sharaf, Ravi N, Frey, Melissa K

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Web-based tool for cancer family history collection: A prospective randomized controlled trial by Frey, Melissa K., Ahsan, Muhammad Danyal, Webster, Emily, Levi, Sarah R., Brewer, Jesse T., Lin, Jenny, Blank, Stephanie V., Krinsky, Hannah, Nchako, Corbyn, Wolfe, Isabel, Thomas, Charlene, Christos, Paul, Cantillo, Evelyn, Chapman-Davis, Eloise, Holcomb, Kevin, Sharaf, Ravi N.

“…Approximately 1% of individuals have a hereditary cancer predisposition syndrome, however, the majority are not aware. Collecting a cancer family history (CFH)…”
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Generation of Human iPSC-Derived Retinal Organoids for Assessment of AAV-Mediated Gene Delivery by Tso, Amy, da Costa, Bruna Lopes, Fehnel, Alexandra, Levi, Sarah R, Jenny, Laura A, Ragi, Sara D, Li, Yao, Quinn, Peter M J

“…Human retinal organoids derived from induced pluripotent stem cells (iPSCs) serve as a promising preclinical model for testing the safety and efficacy of viral…”
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Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study by Liu, Pei-Kang, Lee, Winston, Su, Pei-Yin, Kim, Angela H., Kang, Eugene Yu-Chuan, Levi, Sarah R., Jenny, Laura A., Lin, Pei-Hsuan, Chi, Yi-Chun, Wu, Pei-Liang, Wang, Ethan Hung-Hsi, Chang, Yo-Chen, Liu, Laura, Chen, Kuan-Jen, Hwang, Yih-Shiou, Wu, Wei-Chi, Lai, Chi-Chun, Tsang, Stephen H., Allikmets, Rando, Wang, Nan-Kai

“…This study aims to explore genetic variants that potentially lead to outer retinal tubulation (ORT), estimate the prevalence of ORT in these candidate genes,…”
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Partner and localizer of BRCA2 (PALB2) pathogenic variants and ovarian cancer: A systematic review and meta-analysis by Narayan, Priyanka, Ahsan, Muhammad Danyal, Webster, Emily M., Perez, Luiza, Levi, Sarah R., Harvey, Benedict, Wolfe, Isabel, Beaumont, Shanice, Brewer, Jesse T., Siegel, Drew, Thomas, Charlene, Christos, Paul, Hickner, Andy, Chapman-Davis, Eloise, Cantillo, Evelyn, Holcomb, Kevin, Sharaf, Ravi N., Frey, Melissa K.

“…OBJECTIVEApproximately 20% of ovarian cancers are due to an underlying germline pathogenic variant. While pathogenic variants in several genes have been…”
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