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
Atypical hemolytic uremic syndrome due to DGKE mutation and response to eculizumab: lessons for the clinical nephrologist.
Husain D et al.
Journal of Nephrology, 2021
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
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Bezdíčka M et al.
Pediatric Nephrology (berlin, Germany), 2018
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Osborne AJ et al.
Journal of Immunology (baltimore, Md. : 1950), 2018
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L et al.
Science (new York, N.y.), 2018
Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy.
Larsen CP et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A et al.
Kidney International, 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