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: 6658C>T; R2220W

PubMed Link: 36938073

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Systematic prediction of degrons and E3 ubiquitin ligase binding via deep learning.

Bmc Biology

Hou, Chao C; Li, Yuxuan Y; Wang, Mengyao M; Wu, Hong H; Li, Tingting T

Publication Date: 2022-07-14

Variant appearance in text: PKD1: R2220W

PubMed Link: 35836176

Variant Present in the following documents:

• 12915_2022_1364_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: PKD1: 6658C>T; Arg2220Trp

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing.

Computational And Structural Biotechnology Journal

Shi, Xin X; Zhang, Li L; Bai, Kai K; Xie, Huilin H; Shi, Tieliu T; Zhang, Ruilin R; Fu, Qihua Q; Chen, Sun S; Lu, Yanan Y; Yu, Yu Y; Sun, Kun K

Publication Date: 2020

Variant appearance in text: PKD1: R2220W

PubMed Link: 32128068

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene.

Indian Journal Of Nephrology

Pandita, S S; Khullar, D D; Saxena, R R; Verma, I C IC

Publication Date: 2018

Variant appearance in text: PKD1: Arg2220Trp

PubMed Link: 30647506

Variant Present in the following documents:

• Main text

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: 6658C>T; Arg2220Trp

PubMed Link: 30333007

Variant Present in the following documents:

• Main text
• 12881_2018_Article_693.pdf

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: PKD1: R2220W

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Journal Of The American Society Of Nephrology : Jasn

Cornec-Le Gall, Emilie E; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2018-01

Variant appearance in text: PKD1: 6658C>T; Arg2220Trp

PubMed Link: 29038287

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PKD1: 6658C>T; R2220W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: PKD1: R2220W

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.

Kidney International

Paul, Binu M BM; Consugar, Mark B MB; Ryan Lee, Moonnoh M; Sundsbak, Jamie L JL; Heyer, Christina M CM; Rossetti, Sandro S; Kubly, Vickie J VJ; Hopp, Katharina K; Torres, Vicente E VE; Coto, Eliecer E; Clementi, Maurizio M; Bogdanova, Nadja N; de Almeida, Edgar E; Bichet, Daniel G DG; Harris, Peter C PC

Publication Date: 2014-02

Variant appearance in text: PKD1: R2220W

PubMed Link: 23760289

Variant Present in the following documents:

• Main text
• nihms-481064.pdf

View BVdb publication page

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Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

The Journal Of Clinical Investigation

Hopp, Katharina K; Ward, Christopher J CJ; Hommerding, Cynthia J CJ; Nasr, Samih H SH; Tuan, Han-Fang HF; Gainullin, Vladimir G VG; Rossetti, Sandro S; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2012-11

Variant appearance in text: PKD1: R2220W

PubMed Link: 23064367

Variant Present in the following documents:

• Main text

View BVdb publication page

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Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

Journal Of The American Society Of Nephrology : Jasn

Vujic, Mihailo M; Heyer, Christina M CM; Ars, Elisabet E; Hopp, Katharina K; Markoff, Arseni A; Orndal, Charlotte C; Rudenhed, Bengt B; Nasr, Samih H SH; Torres, Vicente E VE; Torra, Roser R; Bogdanova, Nadja N; Harris, Peter C PC

Publication Date: 2010-07

Variant appearance in text: PKD1: R2220W

PubMed Link: 20558538

Variant Present in the following documents:

• Main text

View BVdb publication page

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