2017
Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology
Gulati A, Somlo S. Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology. Pediatric Nephrology 2017, 33: 745-761. PMID: 28660367, DOI: 10.1007/s00467-017-3698-0.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingNew high-throughput sequencing techniquesHigh-throughput sequencing techniquesConventional genomic approachesNovel gene discoveryNext-generation sequencing technologiesNovel genetic findingsHuman reference genomeExome sequencingGenomic approachesGene discoveryReference genomeHuman genomeSequencing technologiesSequencing techniquesGenetic landscapeLinkage analysisGenomeBiological dataGenetic findingsSequencingPhenotypic misclassificationRecent studiesComprehensive genomic testingPowerful tool
2014
The Kidney Research National Dialogue: Gearing Up to Move Forward
Bonventre JV, Boulware LE, Dember LM, Freedman BI, Furth SL, Holzman LB, Ketchum CJ, Little MH, Mehrotra R, Moe SM, Sands JM, Sedor JR, Somlo S, Star RA, Rys-Sikora KE. The Kidney Research National Dialogue: Gearing Up to Move Forward. Clinical Journal Of The American Society Of Nephrology 2014, 9: 1806-1811. PMID: 25225184, PMCID: PMC4186514, DOI: 10.2215/cjn.07310714.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBiomedical ResearchCareer ChoiceCooperative BehaviorDiffusion of InnovationEducation, MedicalHealth PrioritiesHumansInterdisciplinary CommunicationInternational CooperationKidney DiseasesNational Institute of Diabetes and Digestive and Kidney Diseases (U.S.)NephrologyPrognosisRisk FactorsUnited StatesConceptsKidney Research National DialogueKidney functionKidney diseaseNational InstituteInterventional studyTreatment strategiesClinical investigationTrial designResponsive outcomesDiseaseNephrology workforceCommunity implementationDiabetesFoster translationDigestiveEntire seriesKidney biologyAdditional reviewKidney researchNational dialogueSeries of commentariesFuture research effortsDiagnosisDiscovery researchPrevention