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

Year Number of Results
1933 1
1935 1
1952 2
1958 1
1960 1
1961 1
1962 2
1963 2
1964 6
1966 1
1967 4
1968 2
1970 1
1971 3
1972 3
1973 5
1974 4
1975 2
1976 12
1977 3
1978 4
1979 3
1980 7
1981 10
1982 5
1983 13
1984 6
1985 7
1986 10
1987 15
1988 9
1989 11
1990 8
1991 19
1992 15
1993 20
1994 15
1995 19
1996 14
1997 8
1998 9
1999 11
2000 16
2001 17
2002 14
2003 11
2004 20
2005 21
2006 19
2007 26
2008 27
2009 25
2010 36
2011 35
2012 38
2013 59
2014 64
2015 64
2016 67
2017 61
2018 47
2019 63
2020 62
2021 66
2022 57
2023 24

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1,101 results

Results by year

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Page 1
Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Miller DE, et al. Among authors: austin sl. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216551 Free PMC article.
Polyamines and eIF5A Hypusination Modulate Mitochondrial Respiration and Macrophage Activation.
Puleston DJ, Buck MD, Klein Geltink RI, Kyle RL, Caputa G, O'Sullivan D, Cameron AM, Castoldi A, Musa Y, Kabat AM, Zhang Y, Flachsmann LJ, Field CS, Patterson AE, Scherer S, Alfei F, Baixauli F, Austin SK, Kelly B, Matsushita M, Curtis JD, Grzes KM, Villa M, Corrado M, Sanin DE, Qiu J, Pällman N, Paz K, Maccari ME, Blazar BR, Mittler G, Buescher JM, Zehn D, Rospert S, Pearce EJ, Balabanov S, Pearce EL. Puleston DJ, et al. Among authors: austin sk. Cell Metab. 2019 Aug 6;30(2):352-363.e8. doi: 10.1016/j.cmet.2019.05.003. Epub 2019 May 23. Cell Metab. 2019. PMID: 31130465 Free PMC article.
Glycogen Storage Disease Type I.
Bali DS, El-Gharbawy A, Austin S, Pendyal S, Kishnani PS. Bali DS, et al. Among authors: austin s. 2006 Apr 19 [updated 2021 Oct 14]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2006 Apr 19 [updated 2021 Oct 14]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301489 Free Books & Documents. Review.
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics. Kishnani PS, et al. Among authors: austin sl. Genet Med. 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. Genet Med. 2014. PMID: 25356975 Free article.
International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci.
Nievergelt CM, Maihofer AX, Klengel T, Atkinson EG, Chen CY, Choi KW, Coleman JRI, Dalvie S, Duncan LE, Gelernter J, Levey DF, Logue MW, Polimanti R, Provost AC, Ratanatharathorn A, Stein MB, Torres K, Aiello AE, Almli LM, Amstadter AB, Andersen SB, Andreassen OA, Arbisi PA, Ashley-Koch AE, Austin SB, Avdibegovic E, Babić D, Bækvad-Hansen M, Baker DG, Beckham JC, Bierut LJ, Bisson JI, Boks MP, Bolger EA, Børglum AD, Bradley B, Brashear M, Breen G, Bryant RA, Bustamante AC, Bybjerg-Grauholm J, Calabrese JR, Caldas-de-Almeida JM, Dale AM, Daly MJ, Daskalakis NP, Deckert J, Delahanty DL, Dennis MF, Disner SG, Domschke K, Dzubur-Kulenovic A, Erbes CR, Evans A, Farrer LA, Feeny NC, Flory JD, Forbes D, Franz CE, Galea S, Garrett ME, Gelaye B, Geuze E, Gillespie C, Uka AG, Gordon SD, Guffanti G, Hammamieh R, Harnal S, Hauser MA, Heath AC, Hemmings SMJ, Hougaard DM, Jakovljevic M, Jett M, Johnson EO, Jones I, Jovanovic T, Qin XJ, Junglen AG, Karstoft KI, Kaufman ML, Kessler RC, Khan A, Kimbrel NA, King AP, Koen N, Kranzler HR, Kremen WS, Lawford BR, Lebois LAM, Lewis CE, Linnstaedt SD, Lori A, Lugonja B, Luykx JJ, Lyons MJ, Maples-Keller J, Marmar C, Martin AR, Martin NG, Maurer D,… See abstract for full author list ➔ Nievergelt CM, et al. Among authors: austin sb. Nat Commun. 2019 Oct 8;10(1):4558. doi: 10.1038/s41467-019-12576-w. Nat Commun. 2019. PMID: 31594949 Free PMC article.
1,101 results