Unexpected mutations after CRISPR–Cas9 editing in vivo
Schaefer, Kellie A, Wu, Wen-Hsuan, Colgan, Diana F, Tsang, Stephen H, Bassuk, Alexander G, Mahajan, Vinit B
Published in Nature methods (30.05.2017)
Published in Nature methods (30.05.2017)
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Prickle1 regulates neurite outgrowth of apical spiral ganglion neurons but not hair cell polarity in the murine cochlea
Yang, Tian, Kersigo, Jennifer, Wu, Shu, Fritzsch, Bernd, Bassuk, Alexander G
Published in PloS one (24.08.2017)
Published in PloS one (24.08.2017)
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Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells
Bassuk, Alexander G., Zheng, Andrew, Li, Yao, Tsang, Stephen H., Mahajan, Vinit B.
Published in Scientific reports (27.01.2016)
Published in Scientific reports (27.01.2016)
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Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
Cox, Allison J, Darbro, Benjamin W, Laxer, Ronald M, Velez, Gabriel, Bing, Xinyu, Finer, Alexis L, Erives, Albert, Mahajan, Vinit B, Bassuk, Alexander G, Ferguson, Polly J
Published in PloS one (16.03.2017)
Published in PloS one (16.03.2017)
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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
Mefford, Heather C, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Buysse, Karen, Baker, Carl, Franke, Andre, Malafosse, Alain, Genton, Pierre, Thomas, Pierre, Gurnett, Christina A, Schreiber, Stefan, Bassuk, Alexander G, Guipponi, Michel, Stephani, Ulrich, Helbig, Ingo, Eichler, Evan E
Published in PLoS genetics (20.05.2010)
Published in PLoS genetics (20.05.2010)
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Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic- and oxidative stress-related diseases
Velez, Gabriel, Machlab, Daniel A, Tang, Peter H, Sun, Yang, Tsang, Stephen H, Bassuk, Alexander G, Mahajan, Vinit B
Published in PloS one (21.02.2018)
Published in PloS one (21.02.2018)
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Traumatic brain injury results in unique microglial and astrocyte transcriptomes enriched for type I interferon response
Todd, Brittany P, Chimenti, Michael S, Luo, Zili, Ferguson, Polly J, Bassuk, Alexander G, Newell, Elizabeth A
Published in Journal of neuroinflammation (05.07.2021)
Published in Journal of neuroinflammation (05.07.2021)
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CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa
Wu, Wen-Hsuan, Tsai, Yi-Ting, Justus, Sally, Lee, Ting-Ting, Zhang, Lijuan, Lin, Chyuan-Sheng, Bassuk, Alexander G, Mahajan, Vinit B, Tsang, Stephen H
Published in Molecular therapy (01.08.2016)
Published in Molecular therapy (01.08.2016)
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HTRA1, an age‐related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1
Lin, Michael K., Yang, Jin, Hsu, Chun Wei, Gore, Anuradha, Bassuk, Alexander G., Brown, Lewis M., Colligan, Ryan, Sengillo, Jesse D., Mahajan, Vinit B., Tsang, Stephen H.
Published in Aging cell (01.08.2018)
Published in Aging cell (01.08.2018)
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Investigation of Cas9 antibodies in the human eye
Toral, Marcus A., Charlesworth, Carsten T., Ng, Benjamin, Chemudupati, Teja, Homma, Shota, Nakauchi, Hiromitsu, Bassuk, Alexander G., Porteus, Matthew H., Mahajan, Vinit B.
Published in Nature communications (25.02.2022)
Published in Nature communications (25.02.2022)
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Lacosamide decreases neonatal seizures without increasing apoptosis
Langton, Rachel L., Sharma, Shaunik, Tiarks, Grant C., Bassuk, Alexander G., Glykys, Joseph
Published in Epilepsia (Copenhagen) (01.12.2022)
Published in Epilepsia (Copenhagen) (01.12.2022)
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Liquid-biopsy proteomics combined with AI identifies cellular drivers of eye aging and disease in vivo
Wolf, Julian, Rasmussen, Ditte K., Sun, Young Joo, Vu, Jennifer T., Wang, Elena, Espinosa, Camilo, Bigini, Fabio, Chang, Robert T., Montague, Artis A., Tang, Peter H., Mruthyunjaya, Prithvi, Aghaeepour, Nima, Dufour, Antoine, Bassuk, Alexander G., Mahajan, Vinit B.
Published in Cell (26.10.2023)
Published in Cell (26.10.2023)
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Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase
Paemka, Lily, Mahajan, Vinit B, Ehaideb, Salleh N, Skeie, Jessica M, Tan, Men Chee, Wu, Shu, Cox, Allison J, Sowers, Levi P, Gecz, Jozef, Jolly, Lachlan, Ferguson, Polly J, Darbro, Benjamin, Schneider, Amy, Scheffer, Ingrid E, Carvill, Gemma L, Mefford, Heather C, El-Shanti, Hatem, Wood, Stephen A, Manak, J Robert, Bassuk, Alexander G
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Neuropathophysiological Mechanisms and Treatment Strategies for Post-traumatic Epilepsy
Sharma, Shaunik, Tiarks, Grant, Haight, Joseph, Bassuk, Alexander G
Published in Frontiers in molecular neuroscience (23.02.2021)
Published in Frontiers in molecular neuroscience (23.02.2021)
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Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment
Bassuk, Alexander G, Yeh, Steven, Wu, Shu, Martin, Daniel F, Tsang, Stephen H, Gakhar, Lokesh, Mahajan, Vinit B
Published in PloS one (09.04.2015)
Published in PloS one (09.04.2015)
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Liquid Biopsy Proteomics in Ophthalmology
Wolf, Julian, Franco, Joel A., Yip, Rui, Dabaja, Mohamed Ziad, Velez, Gabriel, Liu, Fei, Bassuk, Alexander G., Mruthyunjaya, Prithvi, Dufour, Antoine, Mahajan, Vinit B.
Published in Journal of proteome research (02.02.2024)
Published in Journal of proteome research (02.02.2024)
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BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE
Moshfegh, Yasmin, Velez, Gabriel, Li, Yao, Bassuk, Alexander G, Mahajan, Vinit B, Tsang, Stephen H
Published in Human molecular genetics (01.07.2016)
Published in Human molecular genetics (01.07.2016)
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Precision Medicine: Personalized Proteomics for the Diagnosis and Treatment of Idiopathic Inflammatory Disease
Velez, Gabriel, Roybal, C Nathaniel, Colgan, Diana, Tsang, Stephen H, Bassuk, Alexander G, Mahajan, Vinit B
Published in JAMA ophthalmology (01.04.2016)
Published in JAMA ophthalmology (01.04.2016)
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