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Journal of Clinical Immunology|September 25, 2015
Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and HepatitisNic Robertson, Karin R Engelhardt, Neil V Morgan, et al.Clinical Kidney Journal|February 26, 2015
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'Noel Edwards, Sarah J Rice, Shreya Raman, et al.Cell Death & Disease|January 28, 2018
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitorsDario Melguizo-Sanchis, Yaobo Xu, Dheraj Taheem, et al.Stem Cells (Dayton, Ohio)|September 16, 2017
An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age-Related Macular Degeneration and Indicates a Beneficial Role for UV Light ExposureDean Hallam, Joseph Collin, Sanja Bojic, et al.Human Molecular Genetics|May 19, 2017
Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesisChunbo Yang, Yaobo Xu, Min Yu, et al.Journal of the American Society of Nephrology : JASN|December 16, 2016
Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal DiseaseRachel C Challis, Troels Ring, Yaobo Xu, et al.Nature Communications|September 12, 2014
Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exonsAndrew Best, Katherine James, Caroline Dalgliesh, et al.Scientific Reports|January 10, 2018
Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric refluxJohn M Darlow, Rebecca Darlay, Mark G Dobson, et al.Scientific Reports|November 4, 2017
Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric refluxJohn M Darlow, Rebecca Darlay, Mark G Dobson, et al.Cell Reports|December 24, 2016
A SLM2 Feedback Pathway Controls Cortical Network Activity and Mouse BehaviorIngrid Ehrmann, Matthew R Gazzara, Vittoria Pagliarini, et al.Pageof 3