2019
Inherited glomerular diseases in the gilded age of genomic advancements
Gulati A, Dahl N, Tufro A. Inherited glomerular diseases in the gilded age of genomic advancements. Pediatric Nephrology 2019, 35: 959-968. PMID: 31049720, PMCID: PMC7184048, DOI: 10.1007/s00467-019-04266-y.Peer-Reviewed Original ResearchConceptsGenomic advancementsHigh-throughput next-generation sequencing technologiesNext-generation sequencing technologiesSingle nucleotide changeSingle nucleotide variationsDisease-causing mutationsDNA variationHuman genomeNext-generation sequencingGenomic informationSequencing technologiesNucleotide variationsAccurate genetic diagnosisNucleotide changesGenetic diagnosisSmall insertionsGenomic knowledgeCytogenetic methodsBiological interpretationMutation spectrumSequencingGenomic medicineGenomeUncertain significanceGlomerular disease
2018
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation
Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK. TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation. American Journal Of Kidney Diseases 2018, 72: 895-899. PMID: 29941221, DOI: 10.1053/j.ajkd.2018.05.006.Peer-Reviewed Original ResearchConceptsRenal thrombotic microangiopathyThrombotic microangiopathyTREX1 mutationsRetinal microangiopathyChronic kidney diseaseRepair exonuclease 1Whole-exome sequencingSignificant brainSymptomatic brainTREX1 variantsKidney involvementClinical presentationKidney diseaseCerebral leukodystrophyComplement dysregulationMicroangiopathyClinical importanceDiverse causesComplement regulationNovel presentationSubstantial proportionBrainSignificant proportionGenetic determinantsCause