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The Journal of Clinical Investigation|July 20, 2018
ASK1 contributes to fibrosis and dysfunction in models of kidney diseaseJohn T Liles, Britton K Corkey, Gregory T Notte, et al.Human Molecular Genetics|January 17, 2020
SPECC1L regulates palate development downstream of IRF6Everett G Hall, Luke W Wenger, Nathan R Wilson, et al.The New England Journal of Medicine|August 20, 2004
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palateTheresa M Zucchero, Margaret E Cooper, Brion S Maher, et al.BMC Biology|January 25, 2024
The chromosome-scale genome assembly for the West Nile vector Culex quinquefasciatus uncovers patterns of genome evolution in mosquitoesSergei S Ryazansky, Chujia Chen, Mark Potters, et al.Journal of Medicinal Chemistry|August 4, 2018
Discovery of a Potent and Orally Bioavailable Cyclophilin Inhibitor Derived from the Sanglifehrin MacrocycleRichard L Mackman, Victoria A Steadman, David K Dean, et al.Epilepsia|May 27, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severityMichelle E Ernst, Evan H Baugh, Amanda Thomas, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
Impact of integrated translational research on clinical exome sequencingEric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.Nature Genetics|July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.Micropublication Biology|September 8, 2023
clifford , an allele of CG1603 , causes tissue overgrowth in the Drosophila melanogaster eyeReagan R Nowaskie, Ashley Kitch, Abby Adams, et al.Nature Communications|February 1, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Célia Bosso-Lefèvre, George Grady, et al.Pageof 58