2023
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
Ahram D, Lim T, Ke J, Jin G, Verbitsky M, Bodria M, Kil B, Chatterjee D, Piva S, Marasa M, Zhang J, Cocchi E, Caridi G, Gucev Z, Lozanovski V, Pisani I, Izzi C, Savoldi G, Gnutti B, Capone V, Morello W, Guarino S, Esposito P, Lambert S, Radhakrishnan J, Appel G, Uy N, Rao M, Canetta P, Bomback A, Nestor J, Hays T, Cohen D, Finale C, van Wijk J, La Scola C, Baraldi O, Tondolo F, Di Renzo D, Jamry-Dziurla A, Pezzutto A, Manca V, Mitrotti A, Santoro D, Conti G, Martino M, Giordano M, Gesualdo L, Zibar L, Masnata G, Bonomini M, Alberti D, La Manna G, Caliskan Y, Ranghino A, Marzuillo P, Kiryluk K, Krzemień G, Miklaszewska M, Lin F, Montini G, Scolari F, Fiaccadori E, Arapović A, Saraga M, McKiernan J, Alam S, Zaniew M, Szczepańska M, Szmigielska A, Sikora P, Drożdż D, Mizerska-Wasiak M, Mane S, Lifton R, Tasic V, Latos-Bielenska A, Gharavi A, Ghiggeri G, Materna-Kiryluk A, Westland R, Sanna-Cherchi S. Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis. Journal Of The American Society Of Nephrology 2023, 34: 1105-1119. PMID: 36995132, PMCID: PMC10278788, DOI: 10.1681/asn.0000000000000132.Peer-Reviewed Original ResearchMeSH KeywordsDNA Copy Number VariationsHumansHydronephrosisKidney PelvisUreteral ObstructionVesico-Ureteral RefluxConceptsCongenital obstructive uropathyPathogenic single nucleotide variantsOverall diagnostic yieldHeterogeneous clinical presentationSingle nucleotide variantsObstructive uropathyClinical presentationDiagnostic yieldGenomic disordersDevelopmental defectsUreteropelvic junction obstructionComprehensive genomic screensFirst diagnostic approachSignificant differencesGenetic susceptibility factorsNovel genetic susceptibility factorsCommon molecular basisDosage-sensitive genesVesicoureteral refluxCongenital megaureterUrinary tractJunction obstructionDiagnostic challengeCommon causeHuman developmental defects
2010
Heterozygous 5p13.3‐13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome
Bayrakli F, Bilguvar K, Ceyhan D, Ercan‐Sencicek A, Cankaya T, Bayrakli S, Guney I, Mane S, State M, Gunel M. Heterozygous 5p13.3‐13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome. Clinical Genetics 2010, 77: 499-502. PMID: 20447154, DOI: 10.1111/j.1399-0004.2010.01411.x.Commentaries, Editorials and Letters