A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Kidney International Reports
Lindemann, Christoph Heinrich CH; Wenzel, Andrea A; Erger, Florian F; Middelmann, Lea L; Borde, Julika J; Hahnen, Eric E; Krauß, Denise D; Oehm, Simon S; Arjune, Sita S; Todorova, Polina P; Burgmaier, Kathrin K; Liebau, Max Christoph MC; Grundmann, Franziska F; Beck, Bodo B BB; Müller, Roman-Ulrich RU
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.
Bmc Medical Genetics
Obeidova, Lena L; Elisakova, Veronika V; Stekrova, Jitka J; Reiterova, Jana J; Merta, Miroslav M; Tesar, Vladimir V; Losan, Frantisek F; Kohoutova, Milada M
Publication Date: 2014-04-03
Variant appearance in text: PKD1: 5995G>A; Gly1999Ser
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.
Journal Of The American Society Of Nephrology : Jasn
Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2012-05
Variant appearance in text: PKD1: 5995G>A; Gly1999Ser