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

Year Number of Results
1900 1
1926 1
1927 2
1933 1
1945 1
1946 1
1947 1
1950 2
1951 1
1952 2
1953 5
1954 1
1955 1
1956 2
1957 6
1958 8
1959 9
1960 5
1961 4
1962 7
1963 2
1964 8
1965 10
1966 7
1967 4
1968 5
1969 6
1970 9
1971 10
1972 10
1973 20
1974 16
1975 17
1976 16
1977 18
1978 19
1979 16
1980 17
1981 21
1982 33
1983 32
1984 30
1985 40
1986 23
1987 80
1988 48
1989 54
1990 57
1991 53
1992 55
1993 38
1994 59
1995 62
1996 51
1997 75
1998 76
1999 64
2000 73
2001 84
2002 77
2003 67
2004 95
2005 123
2006 119
2007 124
2008 133
2009 131
2010 160
2011 159
2012 171
2013 154
2014 167
2015 166
2016 170
2017 192
2018 217
2019 197
2020 182
2021 165
2022 169
2023 151
2024 172
2025 60

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4,496 results

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Page 1
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network; Palmer CGS, Martinez-Agosto JA, Nelson SF. Lee H, et al. Among authors: nelson sf. Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14. Genet Med. 2020. PMID: 31607746 Free PMC article.
Letter to editor.
Nelson SM, La Marca A. Nelson SM, et al. J Assist Reprod Genet. 2021 Feb;38(2):539-541. doi: 10.1007/s10815-020-02024-w. Epub 2021 Jan 7. J Assist Reprod Genet. 2021. PMID: 33411325 Free PMC article. No abstract available.
Association of Thyroid Function Test Abnormalities and Thyroid Autoimmunity With Preterm Birth: A Systematic Review and Meta-analysis.
Consortium on Thyroid and Pregnancy—Study Group on Preterm Birth; Korevaar TIM, Derakhshan A, Taylor PN, Meima M, Chen L, Bliddal S, Carty DM, Meems M, Vaidya B, Shields B, Ghafoor F, Popova PV, Mosso L, Oken E, Suvanto E, Hisada A, Yoshinaga J, Brown SJ, Bassols J, Auvinen J, Bramer WM, López-Bermejo A, Dayan C, Boucai L, Vafeiadi M, Grineva EN, Tkachuck AS, Pop VJM, Vrijkotte TG, Guxens M, Chatzi L, Sunyer J, Jiménez-Zabala A, Riaño I, Murcia M, Lu X, Mukhtar S, Delles C, Feldt-Rasmussen U, Nelson SM, Alexander EK, Chaker L, Männistö T, Walsh JP, Pearce EN, Steegers EAP, Peeters RP. Consortium on Thyroid and Pregnancy—Study Group on Preterm Birth, et al. Among authors: nelson sm. JAMA. 2019 Aug 20;322(7):632-641. doi: 10.1001/jama.2019.10931. JAMA. 2019. PMID: 31429897 Free PMC article.
Development and validation of a histological index for UC.
Mosli MH, Feagan BG, Zou G, Sandborn WJ, D'Haens G, Khanna R, Shackelton LM, Walker CW, Nelson S, Vandervoort MK, Frisbie V, Samaan MA, Jairath V, Driman DK, Geboes K, Valasek MA, Pai RK, Lauwers GY, Riddell R, Stitt LW, Levesque BG. Mosli MH, et al. Among authors: nelson s. Gut. 2017 Jan;66(1):50-58. doi: 10.1136/gutjnl-2015-310393. Epub 2015 Oct 16. Gut. 2017. PMID: 26475633
Association of maternal thyroid function with birthweight: a systematic review and individual-participant data meta-analysis.
Derakhshan A, Peeters RP, Taylor PN, Bliddal S, Carty DM, Meems M, Vaidya B, Chen L, Knight BA, Ghafoor F, Popova PV, Mosso L, Oken E, Suvanto E, Hisada A, Yoshinaga J, Brown SJ, Bassols J, Auvinen J, Bramer WM, López-Bermejo A, Dayan CM, French R, Boucai L, Vafeiadi M, Grineva EN, Pop VJM, Vrijkotte TG, Chatzi L, Sunyer J, Jiménez-Zabala A, Riaño I, Rebagliato M, Lu X, Pirzada A, Männistö T, Delles C, Feldt-Rasmussen U, Alexander EK, Nelson SM, Chaker L, Pearce EN, Guxens M, Steegers EAP, Walsh JP, Korevaar TIM. Derakhshan A, et al. Among authors: nelson sm. Lancet Diabetes Endocrinol. 2020 Jun;8(6):501-510. doi: 10.1016/S2213-8587(20)30061-9. Lancet Diabetes Endocrinol. 2020. PMID: 32445737 Free PMC article.
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, Hassin-Baer S, Poke G, Neas K, Geschwind MD, Grody WW, Gibbs R, Geschwind DH, Lupski JR, Below JE, Nelson SF, Fogel BL. Ngo KJ, et al. Among authors: nelson sf. Hum Mutat. 2020 Feb;41(2):487-501. doi: 10.1002/humu.23946. Epub 2019 Nov 25. Hum Mutat. 2020. PMID: 31692161 Free PMC article.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study; Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium; Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study; Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network; Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Pres… See abstract for full author list ➔ Bryant L, et al. Among authors: nelson sf. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
4,496 results