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

Year Number of Results
1949 18
1950 20
1951 27
1952 38
1953 32
1954 43
1955 37
1956 29
1957 36
1958 37
1959 47
1960 35
1961 40
1962 48
1963 53
1964 39
1965 63
1966 61
1967 66
1968 46
1969 54
1970 71
1971 66
1972 75
1973 78
1974 82
1975 91
1976 82
1977 79
1978 79
1979 79
1980 107
1981 107
1982 105
1983 127
1984 136
1985 113
1986 192
1987 149
1988 258
1989 247
1990 307
1991 330
1992 370
1993 337
1994 299
1995 398
1996 371
1997 406
1998 444
1999 447
2000 450
2001 357
2002 362
2003 327
2004 287
2005 237
2006 268
2007 243
2008 226
2009 181
2010 209
2011 182
2012 251
2013 229
2014 166
2015 190
2016 268
2017 189
2018 207
2019 235
2020 188
2021 209
2022 190
2023 178
2024 74

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12,420 results

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Page 1
15 years of GWAS discovery: Realizing the promise.
Abdellaoui A, Yengo L, Verweij KJH, Visscher PM. Abdellaoui A, et al. Am J Hum Genet. 2023 Feb 2;110(2):179-194. doi: 10.1016/j.ajhg.2022.12.011. Epub 2023 Jan 11. Am J Hum Genet. 2023. PMID: 36634672 Free PMC article. Review.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB; ClinGen Sequence Variant Interpretation Working Group. Walker LC, et al. Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. Epub 2023 Jun 22. Am J Hum Genet. 2023. PMID: 37352859 Free PMC article.
Optical genome mapping enables constitutional chromosomal aberration detection.
Mantere T, Neveling K, Pebrel-Richard C, Benoist M, van der Zande G, Kater-Baats E, Baatout I, van Beek R, Yammine T, Oorsprong M, Hsoumi F, Olde-Weghuis D, Majdali W, Vermeulen S, Pauper M, Lebbar A, Stevens-Kroef M, Sanlaville D, Dupont JM, Smeets D, Hoischen A, Schluth-Bolard C, El Khattabi L. Mantere T, et al. Am J Hum Genet. 2021 Aug 5;108(8):1409-1422. doi: 10.1016/j.ajhg.2021.05.012. Epub 2021 Jul 7. Am J Hum Genet. 2021. PMID: 34237280 Free PMC article.
Shifting landscapes of human MTHFR missense-variant effects.
Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, Fotiadou I, Kitaygorodsky J, Wu Y, Holenstein A, Bürer C, Blomgren L, Yang S, Nussbaum R, Rozen R, Watkins D, Gebbia M, Kozich V, Garton M, Froese DS, Roth FP. Weile J, et al. Am J Hum Genet. 2021 Jul 1;108(7):1283-1300. doi: 10.1016/j.ajhg.2021.05.009. Am J Hum Genet. 2021. PMID: 34214447 Free PMC article.
The genetic architecture of pediatric cardiomyopathy.
Ware SM, Bhatnagar S, Dexheimer PJ, Wilkinson JD, Sridhar A, Fan X, Shen Y, Tariq M, Schubert JA, Colan SD, Shi L, Canter CE, Hsu DT, Bansal N, Webber SA, Everitt MD, Kantor PF, Rossano JW, Pahl E, Rusconi P, Lee TM, Towbin JA, Lal AK, Chung WK, Miller EM, Aronow B, Martin LJ, Lipshultz SE; Pediatric Cardiomyopathy Registry Study Group. Ware SM, et al. Am J Hum Genet. 2022 Feb 3;109(2):282-298. doi: 10.1016/j.ajhg.2021.12.006. Epub 2022 Jan 12. Am J Hum Genet. 2022. PMID: 35026164 Free PMC article.
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration; Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA. Mirshahi UL, et al. Am J Hum Genet. 2022 Nov 3;109(11):2018-2028. doi: 10.1016/j.ajhg.2022.09.014. Epub 2022 Oct 17. Am J Hum Genet. 2022. PMID: 36257325 Free PMC article.
12,420 results
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