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Brain : a Journal of Neurology|June 4, 2024
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalusPhan Q Duy, Bettina Jux, Shujuan Zhao, et al.Science Translational Medicine|July 8, 2026
Developmental genetic determinants of the human cerebrospinal fluid-ventricular systemGarrett Allington, Evan Dennis, Qiang Li, et al.Proceedings of the National Academy of Sciences of the United States of America|June 25, 2024
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamicsTyrone DeSpenza, Amrita Singh, Garrett Allington, et al.Biorxiv : the Preprint Server for Biology|July 9, 2020
A High Content Screen for Mucin-1-Reducing Compounds Identifies Fostamatinib as a Candidate for Rapid Repurposing for Acute Lung Injury during the COVID-19 pandemicMaria Alimova, Eriene-Heidi Sidhom, Abhigyan Satyam, et al.The Journal of Clinical Investigation|December 16, 2024
Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptorsSilvana Bazua-Valenti, Matthew R Brown, Jason Zavras, et al.Cell Reports. Medicine|December 9, 2020
A High-Content Screen for Mucin-1-Reducing Compounds Identifies Fostamatinib as a Candidate for Rapid Repurposing for Acute Lung InjuryMaria Kost-Alimova, Eriene-Heidi Sidhom, Abhigyan Satyam, et al.Nature Medicine|March 6, 2023
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cystsAdam J Kundishora, Garrett Allington, Stephen McGee, et al.Cell|July 27, 2019
Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse ProteinopathyMoran Dvela-Levitt, Maria Kost-Alimova, Maheswarareddy Emani, et al.Nature Genetics|February 12, 2013
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencingAndrew Kirby, Andreas Gnirke, David B Jaffe, et al.Cell|February 21, 2023
The choroid plexus links innate immunity to CSF dysregulation in hydrocephalusStephanie M Robert, Benjamin C Reeves, Emre Kiziltug, et al.Pageof 27