140 related articles for article (PubMed ID: 37214819)
1. Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A; Shang N; Nestor JG; Weng C; Hripcsak G; Harris PC; Gharavi AG; Kiryluk K
medRxiv; 2023 May; ():. PubMed ID: 37214819
[TBL] [Abstract][Full Text] [Related]
2. Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A; Shang N; Nestor JG; Weng C; Hripcsak G; Harris PC; Gharavi AG; Kiryluk K
Nat Commun; 2023 Dec; 14(1):8318. PubMed ID: 38097619
[TBL] [Abstract][Full Text] [Related]
3. Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
Chang AR; Moore BS; Luo JZ; Sartori G; Fang B; Jacobs S; Abdalla Y; Taher M; Carey DJ; Triffo WJ; Singh G; Mirshahi T
JAMA; 2022 Dec; 328(24):2412-2421. PubMed ID: 36573973
[TBL] [Abstract][Full Text] [Related]
4. Monogenic Kidney Diseases in Adults With Chronic Kidney Disease (CKD).
Eble J; Köttgen A; Schultheiß UT
Dtsch Arztebl Int; 2024 Oct; (Forthcoming):. PubMed ID: 38958599
[TBL] [Abstract][Full Text] [Related]
5. [Genotype-phenotype correlation in ADPKD: a possible role for NGAL?].
Virzì GM; Gastaldon F; Corradi V; de Cal M; Cruz DN; Clementi M; Ronco C
G Ital Nefrol; 2013; 30(4):. PubMed ID: 24941494
[TBL] [Abstract][Full Text] [Related]
6. Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P; Mandla R; Huerta-Chagoya A; Alkanak A; Nagy D; Szczerbinski L; Madsen JGS; Cole JB; Porneala B; Westerman K; Li JH; Pollin TI; Florez JC; Gloyn AL; Cebola I; Manning A; Leong A; Udler M; Mercader JM
medRxiv; 2023 Sep; ():. PubMed ID: 37808701
[TBL] [Abstract][Full Text] [Related]
7. Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.
Alzahrani OR; Alatwi HE; Alharbi AA; Alessa AH; Al-Amer OM; Alanazi AFR; Shams AM; Alomari E; Naser AY; Alzahrani FA; Hosawi S; Alghamdi SM; Abdali WA; Elfaki I; Hawsawi YM
Medicina (Kaunas); 2022 Nov; 58(11):. PubMed ID: 36422197
[TBL] [Abstract][Full Text] [Related]
8. Population data improves variant interpretation in autosomal dominant polycystic kidney disease.
Mallawaarachchi AC; Furlong TJ; Shine J; Harris PC; Cowley MJ
Genet Med; 2019 Jun; 21(6):1425-1434. PubMed ID: 30369598
[TBL] [Abstract][Full Text] [Related]
9. Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank.
Choi SH; Jurgens SJ; Weng LC; Pirruccello JP; Roselli C; Chaffin M; Lee CJ; Hall AW; Khera AV; Lunetta KL; Lubitz SA; Ellinor PT
Circ Res; 2020 Jan; 126(2):200-209. PubMed ID: 31691645
[TBL] [Abstract][Full Text] [Related]
10. The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China.
Xue C; Zhou CC; Wu M; Mei CL
Kidney Dis (Basel); 2016 Oct; 2(3):111-119. PubMed ID: 27921038
[TBL] [Abstract][Full Text] [Related]
11. Monogenic and Polygenic Contributions to QTc Prolongation in the Population.
Nauffal V; Morrill VN; Jurgens SJ; Choi SH; Hall AW; Weng LC; Halford JL; Austin-Tse C; Haggerty CM; Harris SL; Wong EK; Alonso A; Arking DE; Benjamin EJ; Boerwinkle E; Min YI; Correa A; Fornwalt BK; Heckbert SR; ; Kooperberg C; Lin HJ; J F Loos R; Rice KM; Gupta N; Blackwell TW; Mitchell BD; Morrison AC; Psaty BM; Post WS; Redline S; Rehm HL; Rich SS; Rotter JI; Soliman EZ; Sotoodehnia N; Lunetta KL; Ellinor PT; Lubitz SA;
Circulation; 2022 May; 145(20):1524-1533. PubMed ID: 35389749
[TBL] [Abstract][Full Text] [Related]
12. Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH; Harshfield EL; Al-Thani M; Tozer DJ; Bell S; Markus HS
JAMA Neurol; 2022 Dec; 79(12):1303-1311. PubMed ID: 36300346
[TBL] [Abstract][Full Text] [Related]
13. The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population.
Chami N; Preuss M; Walker RW; Moscati A; Loos RJF
PLoS Med; 2020 Jul; 17(7):e1003196. PubMed ID: 32692746
[TBL] [Abstract][Full Text] [Related]
14. Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.
Nielsen ML; Lildballe DL; Rasmussen M; Bojesen A; Birn H; Sunde L
Eur J Med Genet; 2021 Apr; 64(4):104183. PubMed ID: 33639313
[TBL] [Abstract][Full Text] [Related]
15. Monogenic and polygenic concepts in chronic kidney disease (CKD).
Jefferis J; Hudson R; Lacaze P; Bakshi A; Hawley C; Patel C; Mallett A
J Nephrol; 2024 Jan; 37(1):7-21. PubMed ID: 37989975
[TBL] [Abstract][Full Text] [Related]
16. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK; Singer-Berk M; Son R; Sveden A; Wood J; England E; Cole JB; Weisburd B; Watts N; Caulkins L; Dornbos P; Koesterer R; Zappala Z; Zhang H; Maloney KA; Dahl A; Aguilar-Salinas CA; Atzmon G; Barajas-Olmos F; Barzilai N; Blangero J; Boerwinkle E; Bonnycastle LL; Bottinger E; Bowden DW; Centeno-Cruz F; Chambers JC; Chami N; Chan E; Chan J; Cheng CY; Cho YS; Contreras-Cubas C; Córdova E; Correa A; DeFronzo RA; Duggirala R; Dupuis J; Garay-Sevilla ME; García-Ortiz H; Gieger C; Glaser B; González-Villalpando C; Gonzalez ME; Grarup N; Groop L; Gross M; Haiman C; Han S; Hanis CL; Hansen T; Heard-Costa NL; Henderson BE; Hernandez JMM; Hwang MY; Islas-Andrade S; Jørgensen ME; Kang HM; Kim BJ; Kim YJ; Koistinen HA; Kooner JS; Kuusisto J; Kwak SH; Laakso M; Lange L; Lee JY; Lee J; Lehman DM; Linneberg A; Liu J; Loos RJF; Lyssenko V; Ma RCW; Martínez-Hernández A; Meigs JB; Meitinger T; Mendoza-Caamal E; Mohlke KL; Morris AD; Morrison AC; Ng MCY; Nilsson PM; O'Donnell CJ; Orozco L; Palmer CNA; Park KS; Post WS; Pedersen O; Preuss M; Psaty BM; Reiner AP; Revilla-Monsalve C; Rich SS; Rotter JI; Saleheen D; Schurmann C; Sim X; Sladek R; Small KS; So WY; Spector TD; Strauch K; Strom TM; Tai ES; Tam CHT; Teo YY; Thameem F; Tomlinson B; Tracy RP; Tuomi T; Tuomilehto J; Tusié-Luna T; van Dam RM; Vasan RS; Wilson JG; Witte DR; Wong TY; ; Burtt NP; Zaitlen N; McCarthy MI; Boehnke M; Pollin TI; Flannick J; Mercader JM; O'Donnell-Luria A; Baxter S; Florez JC; MacArthur DG; Udler MS
Nat Commun; 2021 Jun; 12(1):3505. PubMed ID: 34108472
[TBL] [Abstract][Full Text] [Related]
17. Exome-Based Rare-Variant Analyses in CKD.
Cameron-Christie S; Wolock CJ; Groopman E; Petrovski S; Kamalakaran S; Povysil G; Vitsios D; Zhang M; Fleckner J; March RE; Gelfman S; Marasa M; Li Y; Sanna-Cherchi S; Kiryluk K; Allen AS; Fellström BC; Haefliger C; Platt A; Goldstein DB; Gharavi AG
J Am Soc Nephrol; 2019 Jun; 30(6):1109-1122. PubMed ID: 31085678
[TBL] [Abstract][Full Text] [Related]
18. Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani V; Bin S; Graziano C; Capelli I; Minardi R; Aiello V; Ambrosini E; Cristalli CP; Mattiaccio A; Pariali M; De Fanti S; Faletra F; Grosso E; Cantone R; Mancini E; Mencarelli F; Pasini A; Wischmeijer A; Sciascia N; Seri M; La Manna G
Front Genet; 2020; 11():464. PubMed ID: 32457805
[No Abstract] [Full Text] [Related]
19. Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.
Lanktree MB; Haghighi A; Guiard E; Iliuta IA; Song X; Harris PC; Paterson AD; Pei Y
J Am Soc Nephrol; 2018 Oct; 29(10):2593-2600. PubMed ID: 30135240
[TBL] [Abstract][Full Text] [Related]
20. Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease.
Arora V; Bijarnia-Mahay S; Tiwari V; Bansal S; Gupta P; Setia N; Puri RD; Verma IC
Eur J Med Genet; 2020 Mar; 63(3):103734. PubMed ID: 31349084
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
