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

Year Number of Results
1992 3
1993 1
1994 3
1995 2
1996 3
1997 2
1999 2
2000 2
2001 5
2002 3
2003 6
2004 10
2005 5
2006 10
2007 15
2008 12
2009 10
2010 18
2011 13
2012 27
2013 38
2014 31
2015 32
2016 29
2017 35
2018 44
2019 60
2020 83
2021 81
2022 106
2023 98
2024 40

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736 results

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Page 1
The Human Phenotype Ontology in 2021.
Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN. Köhler S, et al. Among authors: xian j. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043. Nucleic Acids Res. 2021. PMID: 33264411 Free PMC article.
Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes.
Liu N, Zhang L, Tian T, Cheng J, Zhang B, Qiu S, Geng Z, Cui G, Zhang Q, Liao W, Yu Y, Zhang H, Gao B, Xu X, Han T, Yao Z, Qin W, Liu F, Liang M, Xu Q, Fu J, Xu J, Zhu W, Zhang P, Li W, Shi D, Wang C, Lui S, Yan Z, Chen F, Li J, Zhang J, Wang D, Shen W, Miao Y, Xian J, Gao JH, Zhang X, Li MJ, Xu K, Zuo XN, Wang M, Ye Z, Yu C; CHIMGEN Consortium. Liu N, et al. Among authors: xian j. Nat Genet. 2023 Jul;55(7):1126-1137. doi: 10.1038/s41588-023-01425-8. Epub 2023 Jun 19. Nat Genet. 2023. PMID: 37337106
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Among authors: xian j. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.
Mining whole-lung information by artificial intelligence for predicting EGFR genotype and targeted therapy response in lung cancer: a multicohort study.
Wang S, Yu H, Gan Y, Wu Z, Li E, Li X, Cao J, Zhu Y, Wang L, Deng H, Xie M, Wang Y, Ma X, Liu D, Chen B, Tian P, Qiu Z, Xian J, Ren J, Wang K, Wei W, Xie F, Li Z, Wang Q, Xue X, Liu Z, Shi J, Li W, Tian J. Wang S, et al. Among authors: xian j. Lancet Digit Health. 2022 May;4(5):e309-e319. doi: 10.1016/S2589-7500(22)00024-3. Epub 2022 Mar 24. Lancet Digit Health. 2022. PMID: 35341713 Free article.
Guardians of the epilepsy genome.
Xian J, Helbig I. Xian J, et al. Eur J Paediatr Neurol. 2023 Jan;42:A4-A6. doi: 10.1016/j.ejpn.2023.01.003. Epub 2023 Jan 6. Eur J Paediatr Neurol. 2023. PMID: 36720654 No abstract available.
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I. Xian J, et al. Brain. 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. Brain. 2023. PMID: 38015929 Free PMC article.
Imaging of Head and Neck Infections.
Stein JM, Xian J. Stein JM, et al. Among authors: xian j. Neuroimaging Clin N Am. 2023 Feb;33(1):185-206. doi: 10.1016/j.nic.2022.07.016. Neuroimaging Clin N Am. 2023. PMID: 36404043 Review.
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Thalwitzer KM, et al. Among authors: xian j. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264
736 results