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Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Sheng Chih Jin, Weilai Dong, Adam J. Kundishora, Shreyas Panchagnula, Andrés Moreno-De-Luca, Charuta G. Furey, August Allocco, Rebecca L. Walker, Carol Nelson‐Williams, Hannah Smith, Ashley Dunbar, Sierra Conine, Qiongshi Lu, Xue Zeng, Michael C. Sierant, James Knight, William Sullivan, Phan Q. Duy, Tyrone DeSpenza, Benjamin C. Reeves, Jason K. Karimy, Arnaud Marlier, Christopher Castaldi, Irina R. Tikhonova, Boyang Li, Helena Pérez‐Peña, James R. Broach, Edith Mbabazi Kabachelor, Peter Ssenyonga, Christine Hehnly, Ge Li, Boris Keren, Andrew T. Timberlake, June Goto, Francesco T. Mangano, James M. Johnston, William E. Butler, Benjamin C. Warf, Edward R. Smith, Steven J. Schiff, David D. Limbrick, Gregory G. Heuer, Eric M. Jackson, Bermans J. Iskandar, Shrikant Mane, Shozeb Haider, Bülent Güçlü, Yaşar Bayri, Yener Şahin, Charles C. Duncan, Michael L.J. Apuzzo, Michael L. DiLuna, Ellen J. Hoffman, Nenad Šestan, Laura R. Ment, Seth L. Alper, Kaya Bilgüvar, Daniel H. Geschwind, Murat Günel, Richard P. Lifton, Kristopher T. Kahle

2020Nature Medicine164 citationsDOIOpen Access PDF

Topics & Concepts

GliogenesisExome sequencingVentriculomegalyHydrocephalusMutationExomeCerebrospinal fluidNeural tubeMedicineBiologyBioinformaticsNeural stem cellGeneticsPathologyFetusGeneStem cellSurgeryPregnancyEmbryoFetal and Pediatric Neurological DisordersCerebrospinal fluid and hydrocephalusGenetic and Kidney Cyst Diseases
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus | Litcius