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Nature Communications|January 9, 2020
Modulation of brain cation-Cl- cotransport via the SPAK kinase inhibitor ZT-1aJinwei Zhang, Mohammad Iqbal H Bhuiyan, Ting Zhang, et al.Kidney International|January 22, 2020
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosisTilman Jobst-Schwan, Verena Klämbt, Maureen Tarsio, et al.Nature Genetics|April 2, 2003
Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiencyBarry H Paw, Alan J Davidson, Yi Zhou, et al.Trends in Molecular Medicine|October 6, 2023
Human genetics and molecular genomics of Chiari malformation type 1Kedous Y Mekbib, William Muñoz, Garrett Allington, et al.The Journal of Clinical Investigation|February 18, 2020
Glycerol-3-phosphate is an FGF23 regulator derived from the injured kidneyPetra Simic, Wondong Kim, Wen Zhou, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 26, 2022
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasisAmar J Majmundar, Eugen Widmeier, John F Heneghan, et al.Journal of the American Society of Nephrology : JASN|July 4, 2018
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney DiseaseMartina Živná, Kendrah Kidd, Anna Přistoupilová, et al.Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalusAmrita K Singh, Stephen Viviano, Garrett Allington, et al.Proceedings of the National Academy of Sciences of the United States of America|November 25, 2024
Genetic risk factors for Mesoamerican nephropathyDavid J Friedman, Dominick A Leone, Juan José Amador, et al.Brain : a Journal of Neurology|December 21, 2023
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalusAmrita K Singh, Garrett Allington, Stephen Viviano, et al.Pageof 27