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

Year Number of Results
1957 2
1958 3
1959 4
1960 1
1961 2
1964 1
1965 1
1966 2
1971 1
1972 1
1976 2
1977 2
1978 2
1979 2
1980 4
1981 3
1983 2
1984 6
1985 7
1986 8
1987 3
1988 2
1989 5
1990 3
1991 6
1992 4
1993 4
1994 7
1995 4
1996 6
1997 4
1998 5
1999 7
2000 4
2001 2
2002 13
2003 10
2004 6
2005 6
2006 5
2007 6
2008 9
2009 8
2010 10
2011 14
2012 15
2013 13
2014 13
2015 18
2016 34
2017 29
2018 28
2019 32
2020 35
2021 43
2022 53
2023 48
2024 36

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Search Results

543 results

Results by year

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Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Among authors: harper km. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou C, Zhang J, Li B, Zhao H, Heim J, Webber DL, Frank MSB, Xia L, Xu Y, Zhu D, Zhang B, Sheth AH, Knight JR, Castaldi C, Tikhonova IR, López-Giráldez F, Keren B, Whalen S, Buratti J, Doummar D, Cho M, Retterer K, Millan F, Wang Y, Waugh JL, Rodan L, Cohen JS, Fatemi A, Lin AE, Phillips JP, Feyma T, MacLennan SC, Vaughan S, Crompton KE, Reid SM, Reddihough DS, Shang Q, Gao C, Novak I, Badawi N, Wilson YA, McIntyre SJ, Mane SM, Wang X, Amor DJ, Zarnescu DC, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gecz J, MacLennan AH, Kruer MC. Jin SC, et al. Among authors: harper k. Nat Genet. 2020 Oct;52(10):1046-1056. doi: 10.1038/s41588-020-0695-1. Epub 2020 Sep 28. Nat Genet. 2020. PMID: 32989326 Free PMC article.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Richard EM, et al. Among authors: harper k. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003. Am J Hum Genet. 2021. PMID: 34626583 Free PMC article.
Hereditary phytosterolaemia.
Harper K, Bagot CN, Leach M. Harper K, et al. Br J Haematol. 2019 Oct;187(2):137. doi: 10.1111/bjh.16076. Epub 2019 Jul 8. Br J Haematol. 2019. PMID: 31282987 Free article. No abstract available.
Psychotherapy for Adult ADHD.
Harper K, Gentile JP. Harper K, et al. Innov Clin Neurosci. 2022 Oct-Dec;19(10-12):35-39. Innov Clin Neurosci. 2022. PMID: 36591554 Free PMC article. Review.
Hepatic Sinusoidal Disorders.
Venkatesh SK, Harper KC, Borhani AA, Furlan A, Thompson SM, Chen EZM, Idilman IS, Miller FH, Hoodeshenas S, Navin PJ, Gu CN, Welle CL, Torbenson MS. Venkatesh SK, et al. Among authors: harper kc. Radiographics. 2024 Sep;44(9):e240006. doi: 10.1148/rg.240006. Radiographics. 2024. PMID: 39146204 Review.
Early dissemination seeds metastasis in breast cancer.
Hosseini H, Obradović MMS, Hoffmann M, Harper KL, Sosa MS, Werner-Klein M, Nanduri LK, Werno C, Ehrl C, Maneck M, Patwary N, Haunschild G, Gužvić M, Reimelt C, Grauvogl M, Eichner N, Weber F, Hartkopf AD, Taran FA, Brucker SY, Fehm T, Rack B, Buchholz S, Spang R, Meister G, Aguirre-Ghiso JA, Klein CA. Hosseini H, et al. Among authors: harper kl. Nature. 2016 Dec 22;540(7634):552-558. doi: 10.1038/nature20785. Epub 2016 Dec 14. Nature. 2016. PMID: 27974799 Free PMC article.
A genetic history of the Balkans from Roman frontier to Slavic migrations.
Olalde I, Carrión P, Mikić I, Rohland N, Mallick S, Lazaridis I, Mah M, Korać M, Golubović S, Petković S, Miladinović-Radmilović N, Vulović D, Alihodžić T, Ash A, Baeta M, Bartík J, Bedić Ž, Bilić M, Bonsall C, Bunčić M, Bužanić D, Carić M, Čataj L, Cvetko M, Drnić I, Dugonjić A, Đukić A, Đukić K, Farkaš Z, Jelínek P, Jovanovic M, Kaić I, Kalafatić H, Krmpotić M, Krznar S, Leleković T, M de Pancorbo M, Matijević V, Milošević Zakić B, Osterholtz AJ, Paige JM, Tresić Pavičić D, Premužić Z, Rajić Šikanjić P, Rapan Papeša A, Paraman L, Sanader M, Radovanović I, Roksandic M, Šefčáková A, Stefanović S, Teschler-Nicola M, Tončinić D, Zagorc B, Callan K, Candilio F, Cheronet O, Fernandes D, Kearns A, Lawson AM, Mandl K, Wagner A, Zalzala F, Zettl A, Tomanović Ž, Keckarević D, Novak M, Harper K, McCormick M, Pinhasi R, Grbić M, Lalueza-Fox C, Reich D. Olalde I, et al. Among authors: harper k. Cell. 2023 Dec 7;186(25):5472-5485.e9. doi: 10.1016/j.cell.2023.10.018. Cell. 2023. PMID: 38065079 Free PMC article.
543 results