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个人简介
Dr. Joan O’Brien has extensive expertise in the study of the genetics of ocular diseases including retinoblastoma, melanoma and glaucoma. Dr. O’Brien’s laboratory has identified numerous unique pathogenic variants in the retinoblastoma gene (RB1). This testing has allowed retinoblastoma therapy to be directed according to underlying genetic risk, and is offered nationwide at no charge to patients through NEI’s eyeGENE™ initiative. Dr. O’Brien directs a research laboratory with next generation sequencing and high-throughput, automated Sanger sequencing capabilities, which focuses on translational genetics research with an emphasis on molecular sub-classification and endophenotyping of ocular disease. Currently, Dr. O’Brien is the primary investigator on an $11.25 million 5-year Primary Open Angle African American Glaucoma Genetics (POAAGG) study.
研究兴趣
论文共 67 篇作者统计合作学者相似作者
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Anusha Mamidipaka, Isabel Di Rosa,Roy Lee, Yan Zhu,Yineng Chen,Rebecca Salowe,Victoria Addis,Prithvi Sankar,Ebenezer Daniel,Gui-Shuang Ying,Joan M O'Brien
Genesno. 9 (2023)
BMJ OPEN OPHTHALMOLOGYno. 1 (2023)
Ava Kikut, Mohima Sanyal, Marquis Vaughn,Katherine Ellen Ridley-Merriweather,Katharine Head,Rebecca Salowe,Sara Lomax-Reese,Monica Lewis,Ahmara G Ross,Qi N Cui,Victoria Addis,Prithvi S Sankar,
Naira Khachatryan,Maxwell Pistilli,Maureen G Maguire, Angela Y Chang, Marissa R Samuels, Kristen Mulvihill,Rebecca J Salowe,Joan M O'Brien
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