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

Year Number of Results
1987 1
1988 2
1989 1
1991 2
1992 2
1993 1
1994 1
1995 3
1996 2
1997 5
1999 6
2000 4
2001 3
2002 5
2003 6
2004 5
2005 6
2006 9
2007 11
2008 10
2009 13
2010 17
2011 14
2012 9
2013 13
2014 7
2015 7
2016 12
2017 14
2018 12
2019 13
2020 14
2021 22
2022 21
2023 12
2024 6

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267 results

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Page 1
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, Prescott T,… See abstract for full author list ➔ Bryant L, et al. Among authors: neira j. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
NUPR1 protects against hyperPARylation-dependent cell death.
Santofimia-Castaño P, Huang C, Liu X, Xia Y, Audebert S, Camoin L, Peng L, Lomberk G, Urrutia R, Soubeyran P, Neira JL, Iovanna J. Santofimia-Castaño P, et al. Among authors: neira jl. Commun Biol. 2022 Jul 22;5(1):732. doi: 10.1038/s42003-022-03705-1. Commun Biol. 2022. PMID: 35869257 Free PMC article.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: neira j. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Targeting intrinsically disordered proteins involved in cancer.
Santofimia-Castaño P, Rizzuti B, Xia Y, Abian O, Peng L, Velázquez-Campoy A, Neira JL, Iovanna J. Santofimia-Castaño P, et al. Among authors: neira jl. Cell Mol Life Sci. 2020 May;77(9):1695-1707. doi: 10.1007/s00018-019-03347-3. Epub 2019 Oct 30. Cell Mol Life Sci. 2020. PMID: 31667555 Free PMC article. Review.
Biomarkers for glioma immunotherapy: the next generation.
Sims JS, Ung TH, Neira JA, Canoll P, Bruce JN. Sims JS, et al. Among authors: neira ja. J Neurooncol. 2015 Jul;123(3):359-72. doi: 10.1007/s11060-015-1746-9. Epub 2015 Feb 28. J Neurooncol. 2015. PMID: 25724916 Free PMC article. Review.
Protein folding and stability: a Prague cemetery.
Neira JL. Neira JL. Arch Biochem Biophys. 2013 Mar;531(1-2):1-3. doi: 10.1016/j.abb.2013.02.001. Arch Biochem Biophys. 2013. PMID: 23473332 No abstract available.
New insights into cancer: MDM2 binds to the citrullinating enzyme PADI4.
Araujo-Abad S, Rizzuti B, Villamarin-Ortiz A, Pantoja-Uceda D, Moreno-Gonzalez CM, Abian O, Velazquez-Campoy A, Neira JL, de Juan Romero C. Araujo-Abad S, et al. Among authors: neira jl. Protein Sci. 2023 Aug;32(8):e4723. doi: 10.1002/pro.4723. Protein Sci. 2023. PMID: 37409874 Free PMC article.
267 results