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Year Number of Results
1986 1
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1995 1
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1999 2
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2002 1
2003 4
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2005 4
2006 3
2007 3
2008 1
2009 8
2010 7
2011 7
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326 results

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Page 1
Next-Generation Sequencing and Emerging Technologies.
Kumar KR, Cowley MJ, Davis RL. Kumar KR, et al. Semin Thromb Hemost. 2019 Oct;45(7):661-673. doi: 10.1055/s-0039-1688446. Epub 2019 May 16. Semin Thromb Hemost. 2019. PMID: 31096307 Review.
Next-Generation Sequencing and Emerging Technologies.
Kumar KR, Cowley MJ, Davis RL. Kumar KR, et al. Semin Thromb Hemost. 2024 Oct;50(7):1026-1038. doi: 10.1055/s-0044-1786397. Epub 2024 May 1. Semin Thromb Hemost. 2024. PMID: 38692283 Review.
Omega-3 fatty acid supply in pregnancy for risk reduction of preterm and early preterm birth.
Cetin I, Carlson SE, Burden C, da Fonseca EB, di Renzo GC, Hadjipanayis A, Harris WS, Kumar KR, Olsen SF, Mader S, McAuliffe FM, Muhlhausler B, Oken E, Poon LC, Poston L, Ramakrishnan U, Roehr CC, Savona-Ventura C, Smuts CM, Sotiriadis A, Su KP, Tribe RM, Vannice G, Koletzko B; Clinical Practice Guideline on behalf of Asia Pacific Health Association (Pediatric-Neonatology Branch), Child Health Foundation (Stiftung Kindergesundheit), European Academy of Paediatrics, European Board & College of Obstetrics and Gynaecology, European Foundation for the Care of Newborn Infants, European Society for Paediatric Research, and International Society for Developmental Origins of Health and Disease. Cetin I, et al. Among authors: kumar kr. Am J Obstet Gynecol MFM. 2024 Feb;6(2):101251. doi: 10.1016/j.ajogmf.2023.101251. Epub 2023 Dec 7. Am J Obstet Gynecol MFM. 2024. PMID: 38070679 Free article. Review.
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.
Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders. Lange LM, et al. Among authors: kumar kr. Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28. Mov Disord. 2022. PMID: 35481685 Review.
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ferguson JM, Pineda SS, Scriba CK, Tchan M, Fung V, Ng K, Cortese A, Houlden H, Dobson-Stone C, Fitzpatrick L, Halliday G, Ravenscroft G, Davis MR, Laing NG, Fellner A, Kennerson M, Kumar KR, Deveson IW. Stevanovski I, et al. Among authors: kumar kr. Sci Adv. 2022 Mar 4;8(9):eabm5386. doi: 10.1126/sciadv.abm5386. Epub 2022 Mar 4. Sci Adv. 2022. PMID: 35245110 Free PMC article.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Among authors: kumar kr. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: kumar kr. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
326 results