Associated Papers
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Novel Heterozygous Missense Variants in Diacylglycerol Kinase Epsilon and Complement Factor I: Potential Pathogenic Association With Atypical Hemolytic Uremic Syndrome.
Abughanimeh OK et al.
Cureus, 2024
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Clinical features and outcomes of patients with diacylglycerol kinase epsilon nephropathy: a nationwide experience.
Khandelwal P et al.
Pediatric Nephrology (berlin, Germany), 2023
Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report.
Dai X et al.
Frontiers in Pediatrics, 2023
A novel compound heterozygous mutation in DGKE in a Chinese patient causes atypical hemolytic uremic syndrome.
Li J et al.
Hematology (amsterdam, Netherlands), 2020
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
Various phenotypes of disease associated with mutated DGKE gene.
Bezdíčka M et al.
European Journal of Medical Genetics, 2020
Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy.
Brocklebank V et al.
Kidney International, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L et al.
Science (new York, N.y.), 2018
Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.
Gaut JP et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.
Azukaitis K et al.
Journal of the American Society of Nephrology : Jasn, 2017
Defining the genetics of thrombotic microangiopathies.
Vieira-Martins P et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2016
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
Mele C et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2015
Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.
Sánchez Chinchilla D et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2014
Early infantile onset of atypical hemolytic-uremic syndrome is caused by recessive mutations in DGKE.
Lee JW
Clinical Genetics, 2013
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Lemaire M et al.
Nature Genetics, 2013
Novel Mutations in the DGKE Gene in Two Indian Patients with Early-onset Atypical Haemolytic Uraemic Syndrome.
Sharma J et al.
Indian Journal of Nephrology, 0