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

Year Number of Results
1945 21
1946 109
1947 82
1948 97
1949 69
1950 83
1951 89
1952 65
1953 81
1954 68
1955 72
1956 76
1957 90
1958 103
1959 113
1960 136
1961 194
1962 235
1963 684
1964 1474
1965 1392
1966 1533
1967 2174
1968 2842
1969 3234
1970 3567
1971 3959
1972 4309
1973 4728
1974 5472
1975 5159
1976 4767
1977 4496
1978 4353
1979 4828
1980 4710
1981 4799
1982 5266
1983 5599
1984 6063
1985 6780
1986 7216
1987 7983
1988 9191
1989 10904
1990 12295
1991 11917
1992 12573
1993 14658
1994 16678
1995 18354
1996 19099
1997 19799
1998 22024
1999 23609
2000 27021
2001 29085
2002 29602
2003 32301
2004 35488
2005 38557
2006 40681
2007 42295
2008 44137
2009 44779
2010 47666
2011 51101
2012 53280
2013 53915
2014 53200
2015 52999
2016 50933
2017 48865
2018 45873
2019 22241
2020 473
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1,054,571 results
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Page 1
The immunogenetics of neurological disease
Misra MK, et al. Immunology 2018 - Review. PMID 29159928 Free PMC article.
Myriad genetic, immunological and environmental factors may contribute to an individual's susceptibility to neurological disease. Here, we review and discuss the decades long research on the influence of genetic variation at the MHC locus and the role of immunogenetic killer cell immunoglobulin-like receptor (KIR) loci in neurological diseases, including multiple sclerosis, neuromyelitis optica, Parkinson's disease, Alzheimer's disease, schizophrenia, myasthenia gravis and amyotrophic lateral sclerosis. ...
Myriad genetic, immunological and environmental factors may contribute to an individual's susceptibility to neurological disease. Her …
Hidden genetic variation shapes the structure of functional elements in Drosophila.
Chakraborty M, et al. Nat Genet 2018. Among authors: VanKuren NW. PMID 29255259 Free PMC article.
By comparing this new genome to the existing D. melanogaster assembly, we created a structural variant map of unprecedented resolution and identified extensive genetic variation that has remained hidden until now. ...The abundance of important genetic variation that still evades discovery highlights how crucial high-quality reference genomes are to deciphering phenotypes....
By comparing this new genome to the existing D. melanogaster assembly, we created a structural variant map of unprecedented resolutio …
Universal Patterns of Selection in Cancer and Somatic Tissues
Martincorena I, et al. Cell 2017. Among authors: Van Loo P. PMID 29056346 Free PMC article.
We systematically catalog cancer genes and show that genes vary extensively in what proportion of mutations are drivers versus passengers....
We systematically catalog cancer genes and show that genes vary extensively in what proportion of mutations are drivers versus passen …
Mosaicism in health and disease - clones picking up speed
Forsberg LA, et al. Nat Rev Genet 2017 - Review. PMID 27941868
Post-zygotic variation refers to genetic changes that arise in the soma of an individual and that are not usually inherited by the next generation. ...Although most types of mutation can be involved in post-zygotic variation, structural genetic variants are likely to leave the largest genomic footprint. ...
Post-zygotic variation refers to genetic changes that arise in the soma of an individual and that are not usually inherited by …
An Incomplete Understanding of Human Genetic Variation.
Huddleston J and Eichler EE. Genetics 2016. PMID 27053122 Free PMC article.
Deciphering the genetic basis of human disease requires a comprehensive knowledge of genetic variants irrespective of their class or frequency. ...This is because the emphasis has been on single-nucleotide variation as opposed to less tractable and more complex genetic variants, including indels and structural variants. ...
Deciphering the genetic basis of human disease requires a comprehensive knowledge of genetic variants irrespective of t …
Somatic mosaicism: implications for disease and transmission genetics
Campbell IM, et al. Trends Genet 2015 - Review. PMID 25910407 Free PMC article.
Nearly all of the genetic material among cells within an organism is identical. However, single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants (CNVs), and other structural variants (SVs) continually accumulate as cells divide during development. ...Mosaic mutations can go unnoticed, underlie genetic disease or normal human variation, and may be transmitted to the next generation as constitutional variants. ...
Nearly all of the genetic material among cells within an organism is identical. However, single-nucleotide variants (SNVs), sm …
Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm
McCoy RC. Trends Genet 2017 - Review. PMID 28457629 Free PMC article.
In light of these findings, technical and philosophical limitations of various screening approaches are discussed, along with avenues for future research....
In light of these findings, technical and philosophical limitations of various screening approaches are discussed, along with avenues …
Chromosomal Instability as a Driver of Tumor Heterogeneity and Evolution
Bakhoum SF and Landau DA. Cold Spring Harb Perspect Med 2017 - Review. PMID 28213433 Free PMC article.
Large-scale, massively parallel sequencing of human cancer samples has revealed tremendous genetic heterogeneity within individual tumors. Indeed, tumors are composed of an admixture of diverse subpopulations-subclones-that vary in space and time. Here, we discuss a principal driver of clonal diversification in cancer known as chromosomal instability (CIN), which complements other modes of genetic diversification creating the multilayered genomic instability often seen in human cancer. ...
Large-scale, massively parallel sequencing of human cancer samples has revealed tremendous genetic heterogeneity within individual tu …
1,054,571 results
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