463 related articles for article (PubMed ID: 35983412)
1. Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.
Kingdom R; Wright CF
Front Genet; 2022; 13():920390. PubMed ID: 35983412
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF; West B; Tuke M; Jones SE; Patel K; Laver TW; Beaumont RN; Tyrrell J; Wood AR; Frayling TM; Hattersley AT; Weedon MN
Am J Hum Genet; 2019 Feb; 104(2):275-286. PubMed ID: 30665703
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
de Masfrand S; Cogné B; Nizon M; Deb W; Goldenberg A; Lecoquierre F; Nicolas G; Bournez M; Vitobello A; Mau-Them FT; le Guyader G; Bilan F; Bauer P; Zweier C; Piard J; Pasquier L; Bézieau S; Gerard B; Faivre L; Saugier-Veber P; Piton A; Isidor B
Eur J Med Genet; 2024 Jun; 69():104932. PubMed ID: 38453051
[TBL] [Abstract][Full Text] [Related]
6. Incomplete penetrance in primary immunodeficiency: a skeleton in the closet.
Gruber C; Bogunovic D
Hum Genet; 2020 Jun; 139(6-7):745-757. PubMed ID: 32067110
[TBL] [Abstract][Full Text] [Related]
7. Clinical relevance and translational impact of reduced penetrance in genetic movement disorders.
Heinzel S; Mascalzoni D; Bäumer T; Berg D; Kasten M; Brüggemann N
Med Genet; 2022 Jun; 34(2):151-156. PubMed ID: 38835915
[TBL] [Abstract][Full Text] [Related]
8. Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.
Beaumont RN; Hawkes G; Gunning AC; Wright CF
Genome Med; 2024 Apr; 16(1):64. PubMed ID: 38671509
[TBL] [Abstract][Full Text] [Related]
9. Rare genetic causes of complex kidney and urological diseases.
Groopman EE; Povysil G; Goldstein DB; Gharavi AG
Nat Rev Nephrol; 2020 Nov; 16(11):641-656. PubMed ID: 32807983
[TBL] [Abstract][Full Text] [Related]
10. How Does ADPKD Severity Differ Between Family Members?
Yeung KC; Fryml E; Lanktree MB
Kidney Int Rep; 2024 May; 9(5):1198-1209. PubMed ID: 38707833
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report.
Cable J; Purcell RH; Robinson E; Vorstman JAS; Chung WK; Constantino JN; Sanders SJ; Sahin M; Dolmetsch RE; Shah BM; Thurm A; Martin CL; Bearden CE; Mulle JG
Ann N Y Acad Sci; 2021 Dec; 1506(1):5-17. PubMed ID: 34342000
[TBL] [Abstract][Full Text] [Related]
13. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN; Krawczak M; Polychronakos C; Tyler-Smith C; Kehrer-Sawatzki H
Hum Genet; 2013 Oct; 132(10):1077-130. PubMed ID: 23820649
[TBL] [Abstract][Full Text] [Related]
14. Navigating the penetrance and phenotypic spectrum of inherited cardiomyopathies.
Serpa F; Finn CM; Tahir UA
Heart Fail Rev; 2024 Jun; ():. PubMed ID: 38898187
[TBL] [Abstract][Full Text] [Related]
15. How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?
Jenkins D
Philos Trans R Soc Lond B Biol Sci; 2024 Apr; 379(1900):20230045. PubMed ID: 38432317
[TBL] [Abstract][Full Text] [Related]
16. Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt RJ; Steeves M; Bayrak-Toydemir P; Benson KA; Coe BP; Conlin LK; Ganapathi M; Garcia J; Gollob MH; Jobanputra V; Luo M; Ma D; Maston G; McGoldrick K; Palculict TB; Pesaran T; Pollin TI; Qian E; Rehm HL; Riggs ER; Schilit SLP; Sergouniotis PI; Tvrdik T; Watkins N; Zec L; Zhang W; Lebo MS;
Genet Med; 2024 Mar; 26(3):101036. PubMed ID: 38054408
[TBL] [Abstract][Full Text] [Related]
17. A case series of a mother and two daughters with a
Elward C; Berg J; Oberlin JM; Rohena L
Clin Case Rep; 2020 Nov; 8(11):2138-2144. PubMed ID: 33235745
[TBL] [Abstract][Full Text] [Related]
18. Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.
Wei A; Border R; Fu B; Cullina S; Brandes N; Jang SK; Sankararaman S; Kenny E; Udler MS; Ntranos V; Zaitlen N; Arboleda V
medRxiv; 2024 May; ():. PubMed ID: 37745486
[TBL] [Abstract][Full Text] [Related]
19. Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
Lange LM; Avenali M; Ellis M; Illarionova A; Keller Sarmiento IJ; Tan AH; Madoev H; Galandra C; Junker J; Roopnarain K; Solle J; Wegel C; Fang ZH; Heutink P; Kumar KR; Lim SY; Valente EM; Nalls M; Blauwendraat C; Singleton A; Mencacci N; Lohmann K; Klein C;
NPJ Parkinsons Dis; 2023 Jun; 9(1):100. PubMed ID: 37369645
[TBL] [Abstract][Full Text] [Related]
20. The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling.
Paterson AD; Seok SC; Vieland VJ
PLoS One; 2023; 18(9):e0290336. PubMed ID: 37733810
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
