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

Year Number of Results
1919 1
1923 1
1930 1
1931 1
1945 1
1946 8
1947 5
1948 6
1950 1
1951 2
1952 6
1953 8
1954 3
1955 7
1956 5
1957 4
1958 14
1959 10
1960 26
1961 33
1962 38
1963 9
1964 15
1965 32
1966 84
1967 161
1968 356
1969 401
1970 539
1971 737
1972 671
1973 804
1974 1018
1975 1278
1976 1387
1977 2189
1978 3582
1979 3900
1980 4614
1981 5381
1982 6251
1983 7506
1984 8513
1985 10050
1986 11472
1987 13918
1988 16189
1989 20110
1990 24043
1991 26795
1992 29716
1993 32672
1994 36309
1995 39931
1996 41518
1997 44340
1998 48525
1999 52240
2000 57835
2001 59629
2002 62493
2003 67029
2004 72313
2005 78788
2006 84818
2007 89159
2008 93091
2009 97022
2010 104086
2011 112833
2012 119442
2013 124080
2014 125798
2015 126867
2016 124136
2017 122298
2018 122179
2019 127660
2020 132248
2021 133649
2022 119147
2023 108043
2024 109755
2025 1106

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2,792,876 results

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Page 1
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. de Ligt J, et al. N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3. N Engl J Med. 2012. PMID: 23033978 Free article.
A total of 10 de novo mutations and 3 X-linked (maternally inherited) mutations that had been previously predicted to compromise the function of known intellectual-disability genes were found in 13 patients. Potentially causative de novo mutations in novel candidate …
A total of 10 de novo mutations and 3 X-linked (maternally inherited) mutations that had been previously predicted to compromise the functio …
Expanding the genetic causes of small-fiber neuropathy: SCN genes and beyond.
Chan ACY, Kumar S, Tan G, Wong HY, Ong JJY, Chandra B, Huang H, Sharma VK, Lai PS. Chan ACY, et al. Muscle Nerve. 2023 Apr;67(4):259-271. doi: 10.1002/mus.27752. Epub 2022 Nov 30. Muscle Nerve. 2023. PMID: 36448457 Review.
Although many SFNs are secondary and due to immunological causes or metabolic disturbances, the etiology is unknown in up to half of the patients. ...There are 80 SCN variants described as causing SFN, 8 genes causing hereditary sensory autonomi …
Although many SFNs are secondary and due to immunological causes or metabolic disturbances, the etiology is unknown in up to h …
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F; Mendeliome Group; Alkuraya FS. AlAbdi L, et al. Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3. Nat Commun. 2023. PMID: 37644014 Free PMC article.
We describe categories of challenges that cover the phenotype (e.g. novel allelic disorders), pedigree structure (e.g. imprinting disorders masquerading as autosomal recessive phenotypes), positional mapping (e.g. double recombination events abrogating candidate autozygous interv …
We describe categories of challenges that cover the phenotype (e.g. novel allelic disorders), pedigree structure (e.g. imprinting disorders …
Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
van der Harst P, Verweij N. van der Harst P, et al. Circ Res. 2018 Feb 2;122(3):433-443. doi: 10.1161/CIRCRESAHA.117.312086. Epub 2017 Dec 6. Circ Res. 2018. PMID: 29212778 Free PMC article.
The increase in sample size by UK Biobank raised the number of reconstituted gene sets from 4.2% to 13.9% of all gene sets to be involved in CAD. For the 64 novel loci, 155 candidate causal genes were prioritized, many without an obvious connection to CAD. Fi …
The increase in sample size by UK Biobank raised the number of reconstituted gene sets from 4.2% to 13.9% of all gene sets to …
Genes and causation.
Noble D. Noble D. Philos Trans A Math Phys Eng Sci. 2008 Sep 13;366(1878):3001-15. doi: 10.1098/rsta.2008.0086. Philos Trans A Math Phys Eng Sci. 2008. PMID: 18559318 Review.
Relating genotypes to phenotypes is problematic not only owing to the extreme complexity of the interactions between genes, proteins and high-level physiological functions but also because the paradigms for genetic causality in biological systems are seriously confu …
Relating genotypes to phenotypes is problematic not only owing to the extreme complexity of the interactions between genes, proteins …
Gene-environment interactions in breast cancer.
Chia KS. Chia KS. Novartis Found Symp. 2008;293:143-50; discussion 150-5, 181-3. doi: 10.1002/9780470696781.ch11. Novartis Found Symp. 2008. PMID: 18972750 Review.
Recent high-throughput genome-wide association studies are identifying several such genes, each with small absolute risk but with significant population level implications. The study of gene-environment interactions has thus far been confined to candidate gene …
Recent high-throughput genome-wide association studies are identifying several such genes, each with small absolute risk but with sig …
Carcinogenesis.
McMillan SC. McMillan SC. Semin Oncol Nurs. 1992 Feb;8(1):10-9. doi: 10.1016/0749-2081(92)90004-m. Semin Oncol Nurs. 1992. PMID: 1546214 Review.
The ability to prevent many common fatal cancers caused by environmental agents was recognized by an expert committee of the World Health Organization in 1964. ...
The ability to prevent many common fatal cancers caused by environmental agents was recognized by an expert committee of the World He …
Calcium signalling and gene expression.
van Haasteren G, Li S, Muda M, Susini S, Schlegel W. van Haasteren G, et al. J Recept Signal Transduct Res. 1999 Jan-Jul;19(1-4):481-92. doi: 10.3109/10799899909036666. J Recept Signal Transduct Res. 1999. PMID: 10071779 Review.
The profound influence of Ca2+ signalling on gene expression has been recognized a long time ago. As Ca2+ signals are short-lived when compared to alterations in differentiated gene expression, it is generally considered that genes coding for short-lived tran …
The profound influence of Ca2+ signalling on gene expression has been recognized a long time ago. As Ca2+ signals are short-lived whe …
Familial pancreatic cancer.
Klein AP, Hruban RH, Brune KA, Petersen GM, Goggins M. Klein AP, et al. Cancer J. 2001 Jul-Aug;7(4):266-73. Cancer J. 2001. PMID: 11561603 Review.
Pancreatic cancer is the fourth leading cause of cancer death in both men and women in the United States and will be responsible for an estimated 28,900 deaths in 2001. ...Many patients with pancreatic cancers caused by a germline mutation in a cancer-causing …
Pancreatic cancer is the fourth leading cause of cancer death in both men and women in the United States and will be responsible for …
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