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

Year Number of Results
1970 1
1983 1
1984 1
1988 1
1990 1
1991 3
1992 1
1993 3
1998 2
1999 3
2001 2
2002 2
2003 8
2004 6
2005 7
2006 4
2007 5
2008 5
2009 8
2010 8
2011 12
2012 8
2013 7
2014 5
2015 4
2016 4
2017 8
2018 13
2019 13
2020 5
2021 8
2022 15
2023 5
2024 3

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163 results

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Page 1
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Ro… See abstract for full author list ➔ Crow YJ, et al. Among authors: kirk ep. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Elementary subtraction.
Seyler DJ, Kirk EP, Ashcraft MH. Seyler DJ, et al. Among authors: kirk ep. J Exp Psychol Learn Mem Cogn. 2003 Nov;29(6):1339-52. doi: 10.1037/0278-7393.29.6.1339. J Exp Psychol Learn Mem Cogn. 2003. PMID: 14622065
Response to Li and Sun.
Freeman L, Delatycki MB, Scully JL, Kirk EP. Freeman L, et al. Among authors: kirk ep. Genet Med. 2023 Jan;25(1):157. doi: 10.1016/j.gim.2022.10.003. Epub 2022 Nov 14. Genet Med. 2023. PMID: 36378228 Free article. No abstract available.
Dominant negative OTULIN-related autoinflammatory syndrome.
Davidson S, Shibata Y, Collard S, Zheng H, Kong K, Sun JM, Laohamonthonkul P, Cerra A, Kratina T; CIRCA; AADRY; Li MWY, Russell C, van Beek A, Kirk EP, Walsh R, Alqanatish J, Almojali A, Alsuwairi W, Alrasheed A, Lalaoui N, Gray PE, Komander D, Masters SL. Davidson S, et al. Among authors: kirk ep. J Exp Med. 2024 Jun 3;221(6):e20222171. doi: 10.1084/jem.20222171. Epub 2024 Apr 17. J Exp Med. 2024. PMID: 38630025
A new era of genetic testing in congenital heart disease: A review.
Morrish AM, Smith J, Enriquez A, Sholler GF, Mervis J, Dunwoodie SL, Kirk EP, Winlaw DS, Blue GM. Morrish AM, et al. Among authors: kirk ep. Trends Cardiovasc Med. 2022 Jul;32(5):311-319. doi: 10.1016/j.tcm.2021.04.011. Epub 2021 May 5. Trends Cardiovasc Med. 2022. PMID: 33964404 Review.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Dias KR, Carlston CM, Blok LER, De Hayr L, Nawaz U, Evans CA, Bayrak-Toydemir P, Htun S, Zhu Y, Ma A, Lynch SA, Moorwood C, Stals K, Ellard S, Bainbridge MN, Friedman J, Pappas JG, Rabin R, Nowak CB, Douglas J, Wilson TE, Guillen Sacoto MJ, Mullegama SV, Palculict TB, Kirk EP, Pinner JR, Edwards M, Montanari F, Graziano C, Pippucci T, Dingmann B, Glass I, Mefford HC, Shimoji T, Suzuki T, Yamakawa K, Streff H, Schaaf CP, Slavotinek AM, Voineagu I, Carey JC, Buckley MF, Schenck A, Harvey RJ, Roscioli T. Dias KR, et al. Among authors: kirk ep. Genet Med. 2022 Sep;24(9):1952-1966. doi: 10.1016/j.gim.2022.06.001. Epub 2022 Aug 1. Genet Med. 2022. PMID: 35916866 Free article.
163 results