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Po-Ying Fu

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Articles

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations - Nature Communications

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By Shujuan Zhao, Kedous Y. Mekbib, Garrett Allington, Jocelyn Chau, Daniel Durán, Benjamin Reeves, Carol Nelson-Williams, Xue Zeng, Weilai Dong, Po-Ying Fu, Bermans Iskandar, Evan Dennis, Adam J. Kundishora, Eric Jackson, William Butler, Hongyu Zhao, Andres Moreno-De-Luca, Darren B. Orbach, Seth L. Alper, Titus J. Boggon, Murat Gunel, Philip King, Timothy Nottoli, Tyrone DeSpenza Jr., Stefania Nicoli
| Nature Verified
Abstract To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature single-cell transcriptomes. We found the Ras suppressor p120 RasGAP (RASA1) harbored a genome-wide significant burden of loss-of-function de novo variants (2042.5-fold, p = 4.79 x 10−7).
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Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts - Nature Medicine

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By Adam J. Kundishora, Stephen R. McGee, Andrew T. Timberlake, Carol Nelson-Williams, Phan Q. Duy, Weilai Dong, Shujuan Zhao, Francesc Lopez-Giraldez, James Knight, Charuta G. Furey, Shozeb Haider, Andres Moreno-De-Luca, Seth L. Alper, Garrett Allington, Kedous Y. Mekbib, Po-Ying Fu, Murat Gunel
| Nature Verified
Author notes These authors contributed equally: Adam J. Kundishora, Garrett Allington, Stephen McGee, Kedous Y. Mekbib, Rebecca I. Torene, Sheng Chih Jin, Kristopher T. Kahle. Authors and Affiliations Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA Adam J. Kundishora, Kedous Y. Mekbib, Emre Kiziltug, Hannah Smith, Jack Ocken, John Shohfi, August Allocco, Phan Q. Duy, Aladine A. Elsamadicy, Hanya M. Qureshi, Michael L. DiLuna, Charuta G. Furey, Murat Gunel & Kristopher T.
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