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
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Olinger, Eric E; Schaeffer, Céline C; Kidd, Kendrah K; Elhassan, Elhussein A E EAE; Cheng, Yurong Y; Dufour, Inès I; Schiano, Guglielmo G; Mabillard, Holly H; Pasqualetto, Elena E; Hofmann, Patrick P; Fuster, Daniel G DG; Kistler, Andreas D AD; Wilson, Ian J IJ; Kmoch, Stanislav S; Raymond, Laure L; Robert, Thomas T; , ; Eckardt, Kai-Uwe KU; Bleyer, Anthony J AJ; Köttgen, Anna A; Conlon, Peter J PJ; Wiesener, Michael M; Sayer, John A JA; Rampoldi, Luca L; Devuyst, Olivier O
Genetics of 35 blood and urine biomarkers in the UK Biobank.
Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02
Variant appearance in text: PKD1: 8293C>T; Arg2765Cys; rs144979397
A case report of multiple primary prostate tumors with differential drug sensitivity.
Nature Communications
Wilkinson, Scott S; Harmon, Stephanie A SA; Terrigino, Nicholas T NT; Karzai, Fatima F; Pinto, Peter A PA; Madan, Ravi A RA; VanderWeele, David J DJ; Lake, Ross R; Atway, Rayann R; Bright, John R JR; Carrabba, Nicole V NV; Trostel, Shana Y SY; Lis, Rosina T RT; Chun, Guinevere G; Gulley, James L JL; Merino, Maria J MJ; Choyke, Peter L PL; Ye, Huihui H; Dahut, William L WL; Turkbey, Baris B; Sowalsky, Adam G AG
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13
Variant appearance in text: PKD1: 8293C>T; R2765C; rs144979397
Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.
Journal Of The American Society Of Nephrology : Jasn
Lanktree, Matthew B MB; Haghighi, Amirreza A; Guiard, Elsa E; Iliuta, Ioan-Andrei IA; Song, Xuewen X; Harris, Peter C PC; Paterson, Andrew D AD; Pei, York Y
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Human Mutation
Borràs, Daniel M DM; Vossen, Rolf H A M RHAM; Liem, Michael M; Buermans, Henk P J HPJ; Dauwerse, Hans H; van Heusden, Dave D; Gansevoort, Ron T RT; den Dunnen, Johan T JT; Janssen, Bart B; Peters, Dorien J M DJM; Losekoot, Monique M; Anvar, Seyed Yahya SY
Publication Date: 2017-07
Variant appearance in text: PKD1: Arg2765Cys; rs144979397
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: PKD1: 8293C>T; R2765C; rs144979397
Cnossen, Wybrich R WR; te Morsche, René H M RH; Hoischen, Alexander A; Gilissen, Christian C; Venselaar, Hanka H; Mehdi, Soufi S; Bergmann, Carsten C; Losekoot, Monique M; Breuning, Martijn H MH; Peters, Dorien J M DJ; Veltman, Joris A JA; Drenth, Joost P H JP
Publication Date: 2016-02
Variant appearance in text: PKD1: 8293C>T; Arg2765Cys; rs144979397
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
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: 8293C>T; Arg2765Cys; rs144979397
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
The Journal Of Molecular Diagnostics : Jmd
Tan, Adrian Y AY; Michaeel, Alber A; Liu, Genyan G; Elemento, Olivier O; Blumenfeld, Jon J; Donahue, Stephanie S; Parker, Tom T; Levine, Daniel D; Rennert, Hanna H
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: 8293C>T; Arg2765Cys
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Kidney International
Rossetti, Sandro S; Kubly, Vickie J VJ; Consugar, Mark B MB; Hopp, Katharina K; Roy, Sushmita S; Horsley, Sharon W SW; Chauveau, Dominique D; Rees, Lesley L; Barratt, T Martin TM; van't Hoff, William G WG; Niaudet, Patrick P; Niaudet, W Patrick WP; Torres, Vicente E VE; Harris, Peter C PC