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: 8935_8937delTTC; F2979del

PubMed Link: 36938073

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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Demographic and clinical characteristics of children with autosomal dominant polycystic kidney disease: a single center experience

Turkish Journal Of Medical Sciences

Kasap Demir, Belde B; Mutlubaş, Fatma F; Soyaltın, Eren E; Alparslan, Caner C; Arya, Merve M; Alaygut, Demet D; Arslansoyu Çamlar, Seçil S; Berdeli, Afig A; Yavaşcan, Önder Ö

Publication Date: 2021-04-30

Variant appearance in text: PKD1: Phe2979del

PubMed Link: 33315352

Variant Present in the following documents:

• Main text
• turkjmedsci-51-772.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: PKD1: 8935_8937delTTC

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.

Journal Of The American Society Of Nephrology : Jasn

Tan, Adrian Y AY; Zhang, Tuo T; Michaeel, Alber A; Blumenfeld, Jon J; Liu, Genyan G; Zhang, Wanying W; Zhang, Zhengmao Z; Zhu, Yi Y; Rennert, Lior L; Martin, Che C; Xiang, Jenny J; Salvatore, Steven P SP; Robinson, Brian D BD; Kapur, Sandip S; Donahue, Stephanie S; Bobb, Warren O WO; Rennert, Hanna H

Publication Date: 2018-08

Variant appearance in text: PKD1: 8935_8937delTTC; Phe2979del

PubMed Link: 30042192

Variant Present in the following documents:

• Main text

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Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports

Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M

Publication Date: 2016-08-08

Variant appearance in text: PKD1: 8935_8937delTTC; Phe2979del

PubMed Link: 27499327

Variant Present in the following documents:

• Main text
• srep30850.pdf

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