Publications:

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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: 5014_5015delAG; R1672fs*98

PubMed Link: 36938073

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Npj Genomic Medicine

Yu, Chih-Chuan CC; Lee, An-Fu AF; Kohl, Stefen S; Lin, Ming-Yen MY; Cheng, Siao Muk SM; Hung, Chi-Chih CC; Chang, Jer-Ming JM; Chiu, Yi-Wen YW; Hwang, Shang-Jyh SJ; Otto, Edgar A EA; Hildebrandt, Friedhelm F; , ; Hwang, Daw-Yang DY

Publication Date: 2022-07-01

Variant appearance in text: PKD1: 5014_5015delAG; Arg1672fs

PubMed Link: 35778421

Variant Present in the following documents:

• Main text
• 41525_2022_Article_309.pdf

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Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Journal Of Nephrology

Zacchia, Miriam M; Blanco, Francesca Del Vecchio FDV; Trepiccione, Francesco F; Blasio, Giancarlo G; Torella, Annalaura A; Melluso, Andrea A; Capolongo, Giovanna G; Pollastro, Rosa Maria RM; Piluso, Giulio G; Di Iorio, Valentina V; Simonelli, Francesca F; Viggiano, Davide D; Perna, Alessandra A; Nigro, Vincenzo V; Capasso, Giovambattista G

Publication Date: 2021-12

Variant appearance in text: PKD1: 5014_5015del; R1672fs

PubMed Link: 33964006

Variant Present in the following documents:

• Main text

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Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Journal Of Clinical Medicine

Kataoka, Hiroshi H; Fukuoka, Hinata H; Makabe, Shiho S; Yoshida, Rie R; Teraoka, Atsuko A; Ushio, Yusuke Y; Akihisa, Taro T; Manabe, Shun S; Sato, Masayo M; Mitobe, Michihiro M; Tsuchiya, Ken K; Nitta, Kosaku K; Mochizuki, Toshio T

Publication Date: 2020-01-05

Variant appearance in text: PKD1: 5014_5015delAG

PubMed Link: 31948117

Variant Present in the following documents:

• jcm-09-00146-s001.pdf

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Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.

Kidney International Reports

Al Alawi, Intisar I; Al Salmi, Issa I; Al Rahbi, Fatma F; Al Riyami, Mohamed M; Al Kalbani, Naifain N; Al Ghaithi, Badria B; Al Mawali, Adhra A; Sayer, John A JA

Publication Date: 2019-12

Variant appearance in text: PKD1: 5014_5015delAG; Arg1672fs

PubMed Link: 31844813

Variant Present in the following documents:

• Main text
• main.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: 5014_5015delAG; Arg1672GlyfsX98

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Molecular Genetics & Genomic Medicine

Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X

Publication Date: 2019-06

Variant appearance in text: PKD1: 5014_5015del

PubMed Link: 31056860

Variant Present in the following documents:

• Main text
• MGG3-7-e720.pdf

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PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.

Scientific Reports

Ali, Hamad H; Al-Mulla, Fahd F; Hussain, Naser N; Naim, Medhat M; Asbeutah, Akram M AM; AlSahow, Ali A; Abu-Farha, Mohamed M; Abubaker, Jehad J; Al Madhoun, Ashraf A; Ahmad, Sajjad S; Harris, Peter C PC

Publication Date: 2019-03-11

Variant appearance in text: PKD1: 5014_5015delAG; Arg1672fs98

PubMed Link: 30858458

Variant Present in the following documents:

• Main text
• 41598_2019_Article_40761.pdf

View BVdb publication page

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Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics

He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J

Publication Date: 2018-10-17

Variant appearance in text: PKD1: 5014_5015delAG; Arg1672Glyfs*98

PubMed Link: 30333007

Variant Present in the following documents:

• Main text
• 12881_2018_Article_693.pdf

View BVdb publication page

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Can we further enrich autosomal dominant polycystic kidney disease clinical trials for rapidly progressive patients? Application of the PROPKD score in the TEMPO trial.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Cornec-Le Gall, Emilie E; Blais, Jaime D JD; Irazabal, Maria V MV; Devuyst, Olivier O; Gansevoort, Ron T RT; Perrone, Ron D RD; Chapman, Arlene B AB; Czerwiec, Frank S FS; Ouyang, John J; Heyer, Christina M CM; Senum, Sarah R SR; Le Meur, Yannick Y; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2018-04-01

Variant appearance in text: PKD1: 5014_5015delAG

PubMed Link: 28992127

Variant Present in the following documents:

• Main text
• gfx188.pdf

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Polycystic Kidney Disease without an Apparent Family History.

Journal Of The American Society Of Nephrology : Jasn

Iliuta, Ioan-Andrei IA; Kalatharan, Vinusha V; Wang, Kairong K; Cornec-Le Gall, Emilie E; Conklin, John J; Pourafkari, Marina M; Ting, Ryan R; Chen, Chen C; Borgo, Alessia C AC; He, Ning N; Song, Xuewen X; Heyer, Christina M CM; Senum, Sarah R SR; Hwang, Young-Hwan YH; Paterson, Andrew D AD; Harris, Peter C PC; Khalili, Korosh K; Pei, York Y

Publication Date: 2017-09

Variant appearance in text: PKD1: 5014_5015delAG

PubMed Link: 28522688

Variant Present in the following documents:

• Main text

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The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China.

Kidney Diseases (Basel, Switzerland)

Xue, Cheng C; Zhou, Chen-Chen CC; Wu, Ming M; Mei, Chang-Lin CL

Publication Date: 2016-10

Variant appearance in text: PKD1: 5014_5015delAG

PubMed Link: 27921038

Variant Present in the following documents:

• Main text

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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Plos One

Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K

Publication Date: 2016

Variant appearance in text: PKD1: 5014_5015delAG; R1672fs98

PubMed Link: 27835667

Variant Present in the following documents:

• Main text
• pone.0166288.s006.xls, sheet 1

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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: 5014_5015delAG; Arg1672Glyfs*98

PubMed Link: 27499327

Variant Present in the following documents:

• Main text
• srep30850.pdf
• srep30850-s4.xlsx, sheet 1

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Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.

European Journal Of Human Genetics : Ejhg

Mallawaarachchi, Amali C AC; Hort, Yvonne Y; Cowley, Mark J MJ; McCabe, Mark J MJ; Minoche, André A; Dinger, Marcel E ME; Shine, John J; Furlong, Timothy J TJ

Publication Date: 2016-11

Variant appearance in text: PKD1: 5014_5015delAG; Arg1672fs

PubMed Link: 27165007

Variant Present in the following documents:

• Main text

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Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.

Journal Of The American Society Of Nephrology : Jasn

Hwang, Young-Hwan YH; Conklin, John J; Chan, Winnie W; Roslin, Nicole M NM; Liu, Jannel J; He, Ning N; Wang, Kairong K; Sundsbak, Jamie L JL; Heyer, Christina M CM; Haider, Masoom M; Paterson, Andrew D AD; Harris, Peter C PC; Pei, York Y

Publication Date: 2016-06

Variant appearance in text: PKD1: 5014_5015delAG

PubMed Link: 26453610

Variant Present in the following documents:

• Main text

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Plos One

Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y

Publication Date: 2015

Variant appearance in text: PKD1: 5014_5015delAG; R1672Gfs*98

PubMed Link: 26274329

Variant Present in the following documents:

• Main text

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An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Plos One

Eisenberger, Tobias T; Decker, Christian C; Hiersche, Milan M; Hamann, Ruben C RC; Decker, Eva E; Neuber, Steffen S; Frank, Valeska V; Bolz, Hanno J HJ; Fehrenbach, Henry H; Pape, Lars L; Toenshoff, Burkhard B; Mache, Christoph C; Latta, Kay K; Bergmann, Carsten C

Publication Date: 2015

Variant appearance in text: PKD1: 5014_5015del; Arg1672Glyfs

PubMed Link: 25646624

Variant Present in the following documents:

• Main text
• pone.0116680.pdf

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The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).

Current Hypertension Reviews

Rossetti, Sandro S; Harris, Peter C PC

Publication Date: 2013-02

Variant appearance in text: PKD1: 5014_5015delAG

PubMed Link: 23971643

Variant Present in the following documents:

• Main text

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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: 5014_5015delAG

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: 5014_5015delAG; Arg1672Glyfs*98

PubMed Link: 22185115

Variant Present in the following documents:

• Main text
• 1471-2350-12-164.pdf

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