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

Year Number of Results
1951 1
1959 1
1965 1
1969 1
1970 1
1971 3
1975 5
1976 6
1977 7
1978 2
1979 5
1980 5
1981 8
1982 3
1983 12
1984 15
1985 11
1986 17
1987 9
1988 10
1989 19
1990 13
1991 20
1992 24
1993 41
1994 37
1995 32
1996 35
1997 56
1998 62
1999 75
2000 102
2001 121
2002 117
2003 120
2004 131
2005 187
2006 178
2007 199
2008 217
2009 240
2010 238
2011 228
2012 251
2013 248
2014 249
2015 300
2016 309
2017 312
2018 344
2019 351
2020 411
2021 372
2022 333
2023 361
2024 156

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5,896 results

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Page 1
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
Modelling suggests that more than 1,000 genes associated with developmental disorders have not yet been described, many of which are likely to be less penetrant than the currently known genes. Research access to clinical diagnostic datasets will be critical for completing …
Modelling suggests that more than 1,000 genes associated with developmental disorders have not yet been described, many of which are likely …
Estimates of penetrance for recurrent pathogenic copy-number variations.
Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Rosenfeld JA, et al. Genet Med. 2013 Jun;15(6):478-81. doi: 10.1038/gim.2012.164. Epub 2012 Dec 20. Genet Med. 2013. PMID: 23258348 Free PMC article.
We sought to provide empiric estimates for penetrance for some of these recurrent, disease-susceptibility loci. METHODS: We conducted a Bayesian analysis, based on the copy-number variation frequencies in control populations (n = 22,246) and in our database of >4 …
We sought to provide empiric estimates for penetrance for some of these recurrent, disease-susceptibility loci. METHODS: We co …
Using high-resolution variant frequencies to empower clinical genome interpretation.
Whiffin N, Minikel E, Walsh R, O'Donnell-Luria AH, Karczewski K, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur D, Ware JS. Whiffin N, et al. Genet Med. 2017 Oct;19(10):1151-1158. doi: 10.1038/gim.2017.26. Epub 2017 May 18. Genet Med. 2017. PMID: 28518168 Free PMC article.
Recent very large reference datasets, such as the Exome Aggregation Consortium (ExAC), provide an unprecedented opportunity to obtain robust frequency estimates even for very rare variants.MethodsWe present a statistical framework for the frequency-based filtering of candidate di …
Recent very large reference datasets, such as the Exome Aggregation Consortium (ExAC), provide an unprecedented opportunity to obtain robust …
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; ClinGen Low Penetrance/Risk Allele Working Group. Schmidt RJ, et al. Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054408
RESULTS: We formally recognize risk alleles and low-penetrance variants as distinct variant classes from those causing highly penetrant disease that require special considerations regarding their clinical classification and reporting. ...CONCLUSION: These recommenda …
RESULTS: We formally recognize risk alleles and low-penetrance variants as distinct variant classes from those causing highly pene …
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK, Shi Z, Resurreccion WK, Wang CH, Wei J, Pollin TI, Udler MS, Xu J. Billings LK, et al. Endocrinol Diabetes Metab. 2022 Nov;5(6):e372. doi: 10.1002/edm2.372. Epub 2022 Oct 8. Endocrinol Diabetes Metab. 2022. PMID: 36208030 Free PMC article.
Scoring systems to annotate mutation pathogenicity have been widely used; however, statistical evidence for being a highly penetrant MODY gene has not been well-established. METHODS: Participants were from the UK Biobank with whole-exome sequencing data, including 1 …
Scoring systems to annotate mutation pathogenicity have been widely used; however, statistical evidence for being a highly penetrant …
Highly penetrant alleles in age-related macular degeneration.
den Hollander AI, de Jong EK. den Hollander AI, et al. Cold Spring Harb Perspect Med. 2014 Nov 6;5(3):a017202. doi: 10.1101/cshperspect.a017202. Cold Spring Harb Perspect Med. 2014. PMID: 25377141 Free PMC article. Review.
Several studies support a role for rare variants with large effect sizes in the pathogenesis of AMD. In this work, we review the methods that can be used to detect rare variants in common diseases, as well as the recent progress that has been made in the identification of …
Several studies support a role for rare variants with large effect sizes in the pathogenesis of AMD. In this work, we review the methods …
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG. Johnston JJ, et al. Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703879 Free PMC article.
The issue of secondary (so-called incidental) findings in exome analysis is controversial, and data are needed on methods of detection and their frequency. We piloted secondary variant detection by analyzing exomes for mutations in cancer-susceptibility syndromes in subjec …
The issue of secondary (so-called incidental) findings in exome analysis is controversial, and data are needed on methods of detectio …
Editorial: The Fruits of the Genomic Revolution.
Rebbeck TR, Sellers TA. Rebbeck TR, et al. Cancer Epidemiol Biomarkers Prev. 2018 Apr;27(4):362. doi: 10.1158/1055-9965.EPI-16-0914. Cancer Epidemiol Biomarkers Prev. 2018. PMID: 29615418 Free PMC article. No abstract available.
Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.
Topriceanu CC, Pereira AC, Moon JC, Captur G, Ho CY. Topriceanu CC, et al. Circulation. 2024 Jan 9;149(2):107-123. doi: 10.1161/CIRCULATIONAHA.123.065987. Epub 2023 Nov 6. Circulation. 2024. PMID: 37929589 Free PMC article.
METHODS: A systematic search of the literature was performed. We used random-effects generalized linear mixed model meta-analyses to contrast the cross-sectional prevalence and penetrance of sarcomere or sarcomere-related genes in 2 different contexts: clinically-ba …
METHODS: A systematic search of the literature was performed. We used random-effects generalized linear mixed model meta-analyses to …
Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer.
São José C, Garcia-Pelaez J, Ferreira M, Arrieta O, André A, Martins N, Solís S, Martínez-Benítez B, Ordóñez-Sánchez ML, Rodríguez-Torres M, Sommer AK, Te Paske IBAW, Caldas C, Tischkowitz M, Tusié MT; Solve-RD DITF-GENTURIS; Hoogerbrugge N, Demidov G, de Voer RM, Laurie S, Oliveira C. São José C, et al. Gastric Cancer. 2023 Sep;26(5):653-666. doi: 10.1007/s10120-023-01395-0. Epub 2023 May 30. Gastric Cancer. 2023. PMID: 37249750 Free PMC article.
Herein, we characterized an inherited mechanism responsible for extremely early-onset gastric cancer and atypical HDGC high penetrance. METHODS: Whole-exome sequencing (WES) re-analysis was performed in an unsolved HDGC family. ...RESULTS: We identified a germline h …
Herein, we characterized an inherited mechanism responsible for extremely early-onset gastric cancer and atypical HDGC high penetrance …
5,896 results