Publications:

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

Publication Date: 2023-03

Variant appearance in text: PKD1: 8614delA

PubMed Link: 36938073

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: PKD1: 8614delA; I2872fs

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

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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: 8614delA; Ile2872SerfsX3

PubMed Link: 24694054

Variant Present in the following documents:

• Main text
• 1471-2350-15-41.pdf

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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: 8614delA

PubMed Link: 22383692

Variant Present in the following documents:

• Main text

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Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Yu, Chaowen C; Yang, Yuan Y; Zou, Lin L; Hu, Zhangxue Z; Li, Jing J; Liu, Yunqiang Y; Ma, Yongxin Y; Ma, Mingyi M; Su, Dan D; Zhang, Sizhong S

Publication Date: 2011-12-20

Variant appearance in text: PKD1: Ile2872Serfs*3

PubMed Link: 22185115

Variant Present in the following documents:

• Main text
• 1471-2350-12-164.pdf

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