未登录 分享 收藏
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics DeSpenza Jr, Tyrone; Singh, Amrita; Allington, Garrett; Zhao, Shujuan; Lee, Junghoon; Kiziltug, Emre; Prina, Mackenzi L.; Desmet, Nicole; Dang, Huy Q.; Fields, Jennifer; Nelson-Williams, Carol; Zhang, Junhui; Mekbib, Kedous Y.; Dennis, Evan; Mehta, Neel H.; Duy, Phan Q.; Shimelis, Hermela; Walsh, Lauren K.; Marlier, Arnaud; Deniz, Engin; Lake, Evelyn M. R.; Constable, R. Todd; Hoffman, Ellen J.; Lifton, Richard P.; Gulledge, Allan; Fiering, Steven; Moreno-De-Luca, Andres; Haider, Shozeb; Alper, Seth L.; Jin, Sheng Chih; Kahle, Kristopher T.; Luikart, Bryan W. 分享 收藏
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease Mishra-Gorur, Ketu; Barak, Tanyeri; Kaulen, Leon D.; Henegariu, Octavian; Jin, Sheng Chih; Aguilera, Stephanie Marie; Yalbir, Ezgi; Goles, Gizem; Nishimura, Sayoko; Miyagishima, Danielle; Djenoune, Lydia; Altinok, Selin; Rai, Devendra K.; Viviano, Stephen; Prendergast, Andrew; Zerillo, Cynthia; Ozcan, Kent; Baran, Burcin; Sencar, Leman; Goc, Nukte; Yarman, Yanki; Ercan-encicek, A. Gulhan; Bilguvar, Kaya; Lifton, Richard P.; Moliterno, Jennifer; Louvi, Angeliki; Yuan, Shiaulou; Deniz, Engin; Brueckner, Martina; Gunel, Murat 分享 收藏
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus Singh, Amrita K.; Allington, Garrett; Viviano, Stephen; McGee, Stephen; Kiziltug, Emre; Ma, Shaojie; Zhao, Shujuan; Mekbib, Kedous Y.; Shohfi, John P.; Duy, Phan Q.; DeSpenza, Tyrone; Furey, Charuta G.; Reeves, Benjamin C.; Smith, Hannah; Sousa, Andre M. M.; Cherskov, Adriana; Allocco, August; Nelson-Williams, Carol; Haider, Shozeb; Rizvi, Syed R. A.; Alper, Seth L.; Sestan, Nenad; Shimelis, Hermela; Walsh, Lauren K.; Lifton, Richard P.; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kruszka, Paul; Deniz, Engin; Kahle, Kristopher T. 分享 收藏
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease TRAF7在颅底脑膜瘤和先天性心脏病中的多效性作用 Mishra-Gorur, Ketu; Barak, Tanyeri; Kaulen, Leon D.; Henegariu, Octavian; Jin, Sheng Chih; Aguilera, Stephanie Marie; Yalbir, Ezgi; Goles, Gizem; Nishimura, Sayoko; Miyagishima, Danielle; Djenoune, Lydia; Altinok, Selin; Rai, Devendra K.; Viviano, Stephen; Prendergast, Andrew; Zerillo, Cynthia; Ozcan, Kent; Baran, Burcin; Sencar, Leman; Goc, Nukte; Yarman, Yanki; Ercan-Sencicek, A. Gulhan; Bilguvar, Kaya; Lifton, Richard P.; Moliterno, Jennifer; Louvi, Angeliki; Yuan, Shiaulou; Deniz, Engin; Brueckner, Martina; Gunel, Murat 分享 收藏
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans Barak, Tanyeri; Ristori, Emma; Ercan-Sencicek, A. Gulhan; Miyagishima, Danielle F.; Nelson-Williams, Carol; Dong, Weilai; Jin, Sheng Chih; Prendergast, Andrew; Armero, William; Henegariu, Octavian; Erson-Omay, E. Zeynep; Harmanal, Akdes Serin; Guy, Mikhael; Gultekin, Batur; Kilic, Deniz; Rai, Devendra K.; Goc, Nukte; Aguilera, Stephanie Marie; Gulez, Burcu; Altinok, Selin; Ozcan, Kent; Yarman, Yanki; Coskun, Suleyman; Sempou, Emily; Deniz, Engin; Hintzen, Jared; Cox, Andrew; Fomchenko, Elena; Jung, Su Woong; Ozturk, Ali Kemal; Louvi, Angeliki; Bilguvar, Kaya; Connolly, E. Sander, Jr.; Khokha, Mustafa K.; Kahle, Kristopher T.; Yasuno, Katsuhito; Lifton, Richard P.; Mishra-Gorur, Ketu; Nicoli, Stefania; Gunel, Murat 分享 收藏
分享 收藏
分享 收藏
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes Marquez, Jonathan; Mann, Nina; Arana, Kathya; Deniz, Engin; Ji, Weizhen; Konstantino, Monica; Mis, Emily K.; Deshpande, Charu; Jeffries, Lauren; McGlynn, Julie; Hugo, Hannah; Widmeier, Eugen; Konrad, Martin; Tasic, Velibor; Morotti, Raffaella; Baptista, Julia; Ellard, Sian; Lakhani, Saquib Ali; Hildebrandt, Friedhelm; Khokha, Mustafa K. 分享 收藏
Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus (vol 9, 6196, 2020) Date, Priya; Ackermann, Pascal; Furey, Charuta; Fink, Ina Berenice; Jonas, Stephan; Khokha, Mustafa K.; Kahle, Kristopher T.; Deniz, Engin 分享 收藏
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants Landim-Vieira, Maicon; Johnston, Jamie R.; Ji, Weizhen; Mis, Emily K.; Tijerino, Joshua; Spencer-Manzon, Michele; Jeffries, Lauren; Hall, E. Kevin; Panisello-Manterola, David; Khokha, Mustafa K.; Deniz, Engin; Chase, P. Bryant; Lakhani, Saquib A.; Pinto, J. Renato 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
A novel approach to quantifying ciliary physiology: microfluidic mixing driven by a ciliated biological surface Jonas, Stephan; Zhou, Elaine; Deniz, Engin; Huang, Brendan; Chandrasekera, Kenny; Bhattacharya, Dipankan; Wu, Yu; Fan, Rong; Deserno, Thomas M.; Khokha, Mustafa K.; Choma, Michael A. 分享 收藏
分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
