Featured Publications
Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group
Franceschini N, Feldman D, Berg J, Besse W, Chang A, Dahl N, Gbadegesin R, Pollak M, Rasouly H, Smith R, Winkler C, Gharavi A, Group N, Ars E, Bekheirnia M, Bier L, Bleyer A, Fuller L, Halbritter J, Harris P, Kiryluk K, Knoers N, Kopp J, Kramer H, Lagas S, Lieske J, Lu W, Mannon R, Markowitz G, Moe O, Nadkarni G, Nast C, Parekh R, Pei Y, Reed K, Rehm H, Richards D, Roberts M, Sabatello M, Salant D, Sampson M, Sanna-Cherchi S, Santoriello D, Sedor J, Sneddon T, Watnick T, Wilfond B, Williams W, Wong C. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group. American Journal Of Kidney Diseases 2024, 84: 751-766. PMID: 39033956, PMCID: PMC11585423, DOI: 10.1053/j.ajkd.2024.05.010.Peer-Reviewed Original ResearchGenetic testingAllied health professionalsImplementation of genetic testingModified Delphi processChronic kidney diseaseScreening of kidney diseasesHealth professionalsWorking GroupKidney diseaseGenetic risk factorsDelphi processWorking group of expertsNational Kidney FoundationPolygenic causeDisease of multiple causesClinical decisionsRisk factorsGroup of expertsCause of kidney diseaseKidney FoundationGenetic basisMultiple causesGroup consensusGenetic causeMonogenic disorders
2023
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease
Boulogne F, Claus L, Wiersma H, Oelen R, Schukking F, de Klein N, Li S, Westra H, van der Zwaag B, van Reekum F, Sierks D, Schönauer R, Li Z, Bijlsma E, Bos W, Halbritter J, Knoers N, Besse W, Deelen P, Franke L, van Eerde A. KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease. European Journal Of Human Genetics 2023, 31: 1300-1308. PMID: 36807342, PMCID: PMC10620423, DOI: 10.1038/s41431-023-01296-x.Peer-Reviewed Original ResearchConceptsCo-expression networkTissue-specific expressionCandidate genesGene functionPhenotypic consequences of genetic variationPathogenic variantsConsequences of genetic variationInterpretation of genetic variantsGenetic causeRare variantsGene-phenotype associationsHereditary kidney diseaseExome sequencing dataDisease-associated genesGene expression dataPlausible candidate genesCandidate gene prioritizationKidney disease phenotypesUnbiased mannerCystic kidneysNovel genesGenetic variationPhenotypic consequencesGene prioritizationSequence data