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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1965 1
1967 1
1968 3
1969 2
1972 2
1973 1
1974 3
1975 14
1976 17
1977 15
1978 16
1979 22
1980 39
1981 26
1982 31
1983 35
1984 31
1985 47
1986 42
1987 38
1988 58
1989 48
1990 58
1991 69
1992 100
1993 85
1994 108
1995 136
1996 150
1997 164
1998 173
1999 173
2000 156
2001 193
2002 188
2003 187
2004 197
2005 218
2006 246
2007 212
2008 255
2009 270
2010 261
2011 289
2012 312
2013 326
2014 310
2015 387
2016 378
2017 421
2018 500
2019 481
2020 528
2021 526
2022 474
2023 394
2024 119

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8,530 results

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Quoted phrase not found in phrase index: "Not genetically inherited"
Page 1
Arrhythmogenic Cardiomyopathy.
Corrado D, Basso C, Judge DP. Corrado D, et al. Circ Res. 2017 Sep 15;121(7):784-802. doi: 10.1161/CIRCRESAHA.117.309345. Circ Res. 2017. PMID: 28912183 Review.
Pathological features include loss of myocytes and fibrofatty replacement of right ventricular myocardium; biventricular involvement is often observed. It is a cell-to-cell junction cardiomyopathy, typically caused by genetically determined abnormalities of cardiac …
Pathological features include loss of myocytes and fibrofatty replacement of right ventricular myocardium; biventricular involvement is ofte …
Genetic analyses of diverse populations improves discovery for complex traits.
Wojcik GL, Graff M, Nishimura KK, Tao R, Haessler J, Gignoux CR, Highland HM, Patel YM, Sorokin EP, Avery CL, Belbin GM, Bien SA, Cheng I, Cullina S, Hodonsky CJ, Hu Y, Huckins LM, Jeff J, Justice AE, Kocarnik JM, Lim U, Lin BM, Lu Y, Nelson SC, Park SL, Poisner H, Preuss MH, Richard MA, Schurmann C, Setiawan VW, Sockell A, Vahi K, Verbanck M, Vishnu A, Walker RW, Young KL, Zubair N, Acuña-Alonso V, Ambite JL, Barnes KC, Boerwinkle E, Bottinger EP, Bustamante CD, Caberto C, Canizales-Quinteros S, Conomos MP, Deelman E, Do R, Doheny K, Fernández-Rhodes L, Fornage M, Hailu B, Heiss G, Henn BM, Hindorff LA, Jackson RD, Laurie CA, Laurie CC, Li Y, Lin DY, Moreno-Estrada A, Nadkarni G, Norman PJ, Pooler LC, Reiner AP, Romm J, Sabatti C, Sandoval K, Sheng X, Stahl EA, Stram DO, Thornton TA, Wassel CL, Wilkens LR, Winkler CA, Yoneyama S, Buyske S, Haiman CA, Kooperberg C, Le Marchand L, Loos RJF, Matise TC, North KE, Peters U, Kenny EE, Carlson CS. Wojcik GL, et al. Nature. 2019 Jun;570(7762):514-518. doi: 10.1038/s41586-019-1310-4. Epub 2019 Jun 19. Nature. 2019. PMID: 31217584 Free PMC article.
Critical variants may be missed if they have a low frequency or are completely absent in European populations, especially as the field shifts its attention towards rare variants, which are more likely to be population-specific(4-10). Additionally, effect sizes and their derived r …
Critical variants may be missed if they have a low frequency or are completely absent in European populations, especially as the field shift …
Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Yang Y, et al. JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. JAMA. 2014. PMID: 25326635 Free PMC article.
Whole-exome sequencing tests were performed at a clinical genetics laboratory in the United States. Results were reported by clinical molecular geneticists certified by the American Board of Medical Genetics and Genomics. ...MAIN OUTCOMES AND MEASURES: Whole-exome s …
Whole-exome sequencing tests were performed at a clinical genetics laboratory in the United States. Results were reported by clinical …
Polygenic Epidemiology.
Dudbridge F. Dudbridge F. Genet Epidemiol. 2016 May;40(4):268-72. doi: 10.1002/gepi.21966. Epub 2016 Apr 7. Genet Epidemiol. 2016. PMID: 27061411 Free PMC article. Review.
Several traditional problems in genetic epidemiology have recently been addressed by assuming a polygenic basis for disease and treating it as a single entity. ...They have been used to establish a polygenic effect, estimate genetic correlation between traits, estim …
Several traditional problems in genetic epidemiology have recently been addressed by assuming a polygenic basis for disease and treat …
Ethical issues in neurogenetics.
Uhlmann WR, Roberts JS. Uhlmann WR, et al. Handb Clin Neurol. 2018;147:23-36. doi: 10.1016/B978-0-444-63233-3.00003-8. Handb Clin Neurol. 2018. PMID: 29325614 Free PMC article. Review.
Predictive genetic testing offers asymptomatic relatives the opportunity to determine their risk status for a neurogenetic condition, and professional guidelines emphasize patients' autonomy and informed, voluntary decision making. ...Resources for information about …
Predictive genetic testing offers asymptomatic relatives the opportunity to determine their risk status for a neurogenetic con …
Epigenetics in epilepsy.
Kobow K, Blümcke I. Kobow K, et al. Neurosci Lett. 2018 Feb 22;667:40-46. doi: 10.1016/j.neulet.2017.01.012. Epub 2017 Jan 19. Neurosci Lett. 2018. PMID: 28111355 Review.
However, progression of seizure activity as well as the development of drug-resistance remains difficult to predict, irrespective of the underlying epileptogenic condition, i.e., traumatic brain injury, developmental brain lesions, brain tumors or genetic inherit …
However, progression of seizure activity as well as the development of drug-resistance remains difficult to predict, irrespective of …
Genomic structural equation modelling provides insights into the multivariate genetic architecture of complex traits.
Grotzinger AD, Rhemtulla M, de Vlaming R, Ritchie SJ, Mallard TT, Hill WD, Ip HF, Marioni RE, McIntosh AM, Deary IJ, Koellinger PD, Harden KP, Nivard MG, Tucker-Drob EM. Grotzinger AD, et al. Nat Hum Behav. 2019 May;3(5):513-525. doi: 10.1038/s41562-019-0566-x. Epub 2019 Apr 8. Nat Hum Behav. 2019. PMID: 30962613 Free PMC article.
Genomic SEM can be used to model multivariate genetic associations among phenotypes, identify variants with effects on general dimensions of cross-trait liability, calculate more predictive polygenic scores and identify loci that cause divergence between trai …
Genomic SEM can be used to model multivariate genetic associations among phenotypes, identify variants with effects on general dimens …
Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention.
Inouye M, Abraham G, Nelson CP, Wood AM, Sweeting MJ, Dudbridge F, Lai FY, Kaptoge S, Brozynska M, Wang T, Ye S, Webb TR, Rutter MK, Tzoulaki I, Patel RS, Loos RJF, Keavney B, Hemingway H, Thompson J, Watkins H, Deloukas P, Di Angelantonio E, Butterworth AS, Danesh J, Samani NJ; UK Biobank CardioMetabolic Consortium CHD Working Group. Inouye M, et al. J Am Coll Cardiol. 2018 Oct 16;72(16):1883-1893. doi: 10.1016/j.jacc.2018.07.079. J Am Coll Cardiol. 2018. PMID: 30309464 Free PMC article.
BACKGROUND: Coronary artery disease (CAD) has substantial heritability and a polygenic architecture. However, the potential of genomic risk scores to help predict CAD outcomes has not been evaluated comprehensively, because available studies have involved limited ge …
BACKGROUND: Coronary artery disease (CAD) has substantial heritability and a polygenic architecture. However, the potential of genomic risk …
Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort.
Privé F, Aschard H, Carmi S, Folkersen L, Hoggart C, O'Reilly PF, Vilhjálmsson BJ. Privé F, et al. Am J Hum Genet. 2022 Jan 6;109(1):12-23. doi: 10.1016/j.ajhg.2021.11.008. Am J Hum Genet. 2022. PMID: 34995502 Free PMC article.
Indeed, prediction accuracy has been shown to decay as a function of the genetic distance between the training and test cohorts. ...These analyses demonstrate that prediction already drops off within European ancestries and reduces globally in proportion to …
Indeed, prediction accuracy has been shown to decay as a function of the genetic distance between the training and test cohort …
Rare Neurodegenerative Diseases: Clinical and Genetic Update.
Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I. Matilla-Dueñas A, et al. Adv Exp Med Biol. 2017;1031:443-496. doi: 10.1007/978-3-319-67144-4_25. Adv Exp Med Biol. 2017. PMID: 29214587 Review.
Although the majority of neurodegenerative diseases are sporadic, Mendelian inheritance is well documented. Intriguingly, the clinical presentations and neuropathological findings in inherited neurodegenerative forms are often indistinguishable from those of sporadi …
Although the majority of neurodegenerative diseases are sporadic, Mendelian inheritance is well documented. Intriguingly, the clinica …
8,530 results