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

Year Number of Results
1941 1
1953 1
1954 1
1957 2
1958 2
1959 3
1960 1
1961 1
1962 1
1963 2
1964 3
1965 2
1967 4
1968 1
1969 1
1970 3
1971 2
1973 3
1974 2
1975 7
1976 1
1977 2
1978 3
1979 1
1981 1
1982 2
1984 1
1985 2
1986 2
1987 2
1988 3
1990 1
1991 2
1992 2
1993 3
1994 1
1995 2
1996 2
1997 9
1998 8
1999 8
2000 9
2001 7
2002 11
2003 19
2004 12
2005 7
2006 8
2007 8
2008 7
2009 18
2010 22
2011 25
2012 16
2013 20
2014 27
2015 25
2016 19
2017 43
2018 36
2019 40
2020 42
2021 43
2022 54
2023 35
2024 10

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582 results

Results by year

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Page 1
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z. Lunke S, et al. Among authors: simons c. Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8. Nat Med. 2023. PMID: 37291213 Free PMC article.
Chemogenic Subqualities of Mouthfeel.
Simons CT, Klein AH, Carstens E. Simons CT, et al. Chem Senses. 2019 May 29;44(5):281-288. doi: 10.1093/chemse/bjz016. Chem Senses. 2019. PMID: 31039245 Free PMC article. Review.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. Palmer EE, et al. Among authors: simons c. Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36385166 Free PMC article.
The natural productome.
Palazzolo AME, Simons CLW, Burke MD. Palazzolo AME, et al. Among authors: simons clw. Proc Natl Acad Sci U S A. 2017 May 30;114(22):5564-5566. doi: 10.1073/pnas.1706266114. Epub 2017 May 22. Proc Natl Acad Sci U S A. 2017. PMID: 28533417 Free PMC article. No abstract available.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Stark Z, Boughtwood T, Haas M, Braithwaite J, Gaff CL, Goranitis I, Spurdle AB, Hansen DP, Hofmann O, Laing N, Metcalfe S, Newson AJ, Scott HS, Thorne N, Ward RL, Dinger ME, Best S, Long JC, Grimmond SM, Pearson J, Waddell N, Barnett CP, Cook M, Field M, Fielding D, Fox SB, Gecz J, Jaffe A, Leventer RJ, Lockhart PJ, Lunke S, Mallett AJ, McGaughran J, Mileshkin L, Nones K, Roscioli T, Scheffer IE, Semsarian C, Simons C, Thomas DM, Thorburn DR, Tothill R, White D, Dunwoodie S, Simpson PT, Phillips P, Brion MJ, Finlay K, Quinn MC, Mattiske T, Tudini E, Boggs K, Murray S, Wells K, Cannings J, Sinclair AH, Christodoulou J, North KN. Stark Z, et al. Among authors: simons c. Am J Hum Genet. 2023 Mar 2;110(3):419-426. doi: 10.1016/j.ajhg.2023.01.018. Am J Hum Genet. 2023. PMID: 36868206 Free PMC article. Review.
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL. Salter CG, et al. Among authors: simons c. Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313. Brain. 2021. PMID: 34415310 Free PMC article.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG. Amarasekera SSC, et al. Among authors: simons c. Hum Mol Genet. 2023 Jul 20;32(15):2441-2454. doi: 10.1093/hmg/ddad069. Hum Mol Genet. 2023. PMID: 37133451
Psychosis Endophenotypes: A Gene-Set-Specific Polygenic Risk Score Analysis.
Wang B, Irizar H, Thygesen JH, Zartaloudi E, Austin-Zimmerman I, Bhat A, Harju-Seppänen J, Pain O, Bass N, Gkofa V, Alizadeh BZ, van Amelsvoort T, Arranz MJ, Bender S, Cahn W, Stella Calafato M, Crespo-Facorro B, Di Forti M; Genetic Risk and Outcome of Psychosis (GROUP) Study; Giegling I, de Haan L, Hall J, Hall MH, van Haren N, Iyegbe C, Kahn RS, Kravariti E, Lawrie SM, Lin K, Luykx JJ, Mata I, McDonald C, McIntosh AM, Murray RM; Psychosis Endophenotypes International Consortium (PEIC); Picchioni M, Powell J, Prata DP, Rujescu D, Rutten BPF, Shaikh M, Simons CJP, Toulopoulou T, Weisbrod M, van Winkel R, Kuchenbaecker K, McQuillin A, Bramon E. Wang B, et al. Among authors: simons cjp. Schizophr Bull. 2023 Nov 29;49(6):1625-1636. doi: 10.1093/schbul/sbad088. Schizophr Bull. 2023. PMID: 37582581 Free PMC article.
Enteropathogen Changes After Rotavirus Vaccine Scale-up.
Ballard SB, Requena D, Mayta H, Sanchez GJ, Oyola-Lozada MG, Colquechagua Aliaga FD, Cabrera L, Vittet Mondonedo MD, Taquiri C, Tilley CDH, Simons CMP, Meza RA, Bern C, Saito M, Figueroa-Quintanilla DA, Gilman RH. Ballard SB, et al. Among authors: simons cmp. Pediatrics. 2022 Jan 1;149(1):e2020049884. doi: 10.1542/peds.2020-049884. Pediatrics. 2022. PMID: 34918158 Free PMC article.
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.
Hort Y, Sullivan P, Wedd L, Fowles L, Stevanovski I, Deveson I, Simons C, Mallett A, Patel C, Furlong T, Cowley MJ, Shine J, Mallawaarachchi A. Hort Y, et al. Among authors: simons c. NPJ Genom Med. 2023 Jul 7;8(1):16. doi: 10.1038/s41525-023-00362-z. NPJ Genom Med. 2023. PMID: 37419908 Free PMC article.
582 results