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

Year Number of Results
1951 1
1955 2
1956 2
1957 1
1958 3
1960 1
1962 2
1963 4
1964 8
1965 5
1966 11
1967 16
1968 18
1969 28
1970 14
1971 16
1972 14
1973 23
1974 21
1975 27
1976 15
1977 7
1978 16
1979 22
1980 28
1981 23
1982 16
1983 15
1984 19
1985 16
1986 23
1987 17
1988 30
1989 28
1990 31
1991 23
1992 24
1993 37
1994 36
1995 39
1996 40
1997 43
1998 53
1999 31
2000 59
2001 63
2002 59
2003 45
2004 56
2005 75
2006 65
2007 54
2008 51
2009 68
2010 57
2011 47
2012 64
2013 61
2014 51
2015 70
2016 63
2017 75
2018 51
2019 54
2020 71
2021 94
2022 75
2023 82
2024 78
2025 56

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2,320 results

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Page 1
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Among authors: hunt d. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 Free PMC article.
Reproducibility and Repeatability of US Shear-Wave and Transient Elastography in Nonalcoholic Fatty Liver Disease.
Pierce TT, Ozturk A, Sherlock SP, Moura Cunha G, Wang X, Li Q, Hunt D, Middleton MS, Martin M, Corey KE, Edenbaum H, Shankar SS, Heymann H, Kamphaus TN, Calle RA, Covarrubias Y, Loomba R, Obuchowski NA, Sanyal AJ, Sirlin CB, Fowler KJ, Samir AE. Pierce TT, et al. Among authors: hunt d. Radiology. 2024 Sep;312(3):e233094. doi: 10.1148/radiol.233094. Radiology. 2024. PMID: 39254458 Free PMC article.
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.
Jackson A, Thaker N, Blakes A, Rice G, Griffiths-Jones S, Balasubramanian M, Campbell J, Shannon N, Choi J, Hong J, Hunt D, de Burca A, Kim SY, Kim T, Lee S, Redman M, Rius R, Simons C, Tan TY, Ellingford J, O'Keefe RT, Chae JH, Banka S. Jackson A, et al. Among authors: hunt d. Nat Genet. 2025 Jun;57(6):1362-1366. doi: 10.1038/s41588-025-02209-y. Epub 2025 May 29. Nat Genet. 2025. PMID: 40442284 Free PMC article.
Long-term outcomes in patients with muscle-invasive bladder cancer after selective bladder-preserving combined-modality therapy: a pooled analysis of Radiation Therapy Oncology Group protocols 8802, 8903, 9506, 9706, 9906, and 0233.
Mak RH, Hunt D, Shipley WU, Efstathiou JA, Tester WJ, Hagan MP, Kaufman DS, Heney NM, Zietman AL. Mak RH, et al. Among authors: hunt d. J Clin Oncol. 2014 Dec 1;32(34):3801-9. doi: 10.1200/JCO.2014.57.5548. Epub 2014 Nov 3. J Clin Oncol. 2014. PMID: 25366678 Free PMC article.
Vaccination with mRNA-encoded nanoparticles drives early maturation of HIV bnAb precursors in humans.
Willis JR, Prabhakaran M, Muthui M, Naidoo A, Sincomb T, Wu W, Cottrell CA, Landais E, deCamp AC, Keshavarzi NR, Kalyuzhniy O, Lee JH, Murungi LM, Ogonda WA, Yates NL, Corcoran MM, Phulera S, Musando J, Tsai A, Lemire G, Sein Y, Muteti M, Alamuri P, Bohl JA, Holman D, Himansu S, Leav B, Reuter C, Lin LA, Ding B, He C, Straus WL, MacPhee KJ, Regadas I, Nyabundi DV, Chirchir R, Anzala O, Kimotho JN, Kibet C, Greene K, Gao H, Beatman E, Benson K, Laddy D, Brown DM, Bronson R, Jean-Baptiste J, Gajjala S, Rikhtegaran-Tehrani Z, Benner A, Ramaswami M, Lu D, Alavi N, Amirzehni S, Kubitz M, Tingle R, Georgeson E, Phelps N, Adachi Y, Liguori A, Flynn C, McKenney K, Zhou X, Owuor DC, Owuor SA, Kim SY, Duff M, Kim JY, Gibson G, Baboo S, Diedrich J, Schiffner T, Shields M, Matsoso M, Santos J, Syvertsen K, Kennedy A, Schroeter M, Vekemans J, Yates JR 3rd, Paulson JC, Hyrien O, McDermott AB, Maenetje P, Nyombayire J, Karita E, Ingabire R, Edward V, Muturi-Kioi V, Maenza J, Shapiro AE, McElrath MJ, Edupuganti S, Taylor BS, Diemert D, Ozorowski G, Koup RA, Montefiori D, Ward AB, Karlsson Hedestam GB, Tomaras G, Hunt DJ, Muema D, Sok D, Laufer DS, Andrews SF, Nduati EW, Schief WR. Willis JR, et al. Among authors: hunt dj. Science. 2025 Jul 31;389(6759):eadr8382. doi: 10.1126/science.adr8382. Epub 2025 Jul 31. Science. 2025. PMID: 40373112 Clinical Trial.
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park SM, Mendes AC, Saraiva JM, Hammer TB, Nazaryan-Petersen L, Barakat TS, Wilke M, Bhoj E, Ahrens-Nicklas RC, Li D, Nomakuchi T, Brilstra EH, Hunt D, Johnson D, Mansour S, Oprych K, Mehta SG, Platzer K, Schnabel F, Kiep H, Faust H, Prinzing G, Wiltrout K, Radley JA, Serrano Russi AH, Atallah I, Campos-Xavier B, Amor DJ, Morgan AT, Fagerberg C, Andersen UA, Andersen CB, Bijlsma EK, Bird LM, Mullegama SV, Green A, Isidor B, Cogné B, Kenny J, Lynch SA, Quin S, Low K, Herget T, Kortüm F, Levy RJ, Morrison JL, Wheeler PG, Narumanch T, Peron K, Matthews N, Uhlman J, Bell L, Pang L, Scurr I, Belles RS, Salbert BA, Schaefer GB, Green S, Ros A, Rodríguez-Palmero A, Višnjar T, Writzl K, Vasudevan PC, Balasubramanian M. Elkhateeb N, et al. Among authors: hunt d. Genet Med. 2025 Mar;27(3):101348. doi: 10.1016/j.gim.2024.101348. Epub 2024 Dec 27. Genet Med. 2025. PMID: 39737487 Free article.
Neoadjuvant botensilimab plus balstilimab response pattern in locally advanced mismatch repair proficient colorectal cancer.
Kasi PM, Hidalgo M, Jafari MD, Yeo H, Lowenfeld L, Khan U, Nguyen ATH, Siolas D, Swed B, Hyun J, Khan S, Wood M, Samstein B, Rocca JP, Ocean AJ, Popa EC, Hunt DH, Uppal NP, Garrett KA, Pigazzi A, Zhou XK, Shah MA, Hissong E. Kasi PM, et al. Among authors: hunt dh. Oncogene. 2023 Oct;42(44):3252-3259. doi: 10.1038/s41388-023-02835-y. Epub 2023 Sep 21. Oncogene. 2023. PMID: 37731056 Free PMC article.
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: hunt d. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
2,320 results