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

Year Number of Results
2004 1
2012 1
2015 1
2016 2
2017 5
2018 6
2019 10
2020 6
2021 11
2022 7
2023 7
2024 2

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54 results

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Page 1
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: botia ja. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
Circulating blood circular RNA in Parkinson's Disease; a systematic study.
Beric A, Sun Y, Sanchez S, Martin C, Powell T, Adrian Pardo J, Sanford J, Botia JA, Cruchaga C, Ibanez L. Beric A, et al. Among authors: botia ja. medRxiv [Preprint]. 2024 Jan 23:2024.01.22.24301623. doi: 10.1101/2024.01.22.24301623. medRxiv. 2024. PMID: 38343838 Free PMC article. Preprint.
Cell-free RNA signatures predict Alzheimer's disease.
Cisterna-García A, Beric A, Ali M, Pardo JA, Chen HH, Fernandez MV, Norton J, Gentsch J, Bergmann K, Budde J, Perlmutter JS, Morris JC, Cruchaga C, Botia JA, Ibanez L. Cisterna-García A, et al. Among authors: botia ja. iScience. 2023 Nov 23;26(12):108534. doi: 10.1016/j.isci.2023.108534. eCollection 2023 Dec 15. iScience. 2023. PMID: 38089583 Free PMC article.
Artificial intelligence for dementia genetics and omics.
Bettencourt C, Skene N, Bandres-Ciga S, Anderson E, Winchester LM, Foote IF, Schwartzentruber J, Botia JA, Nalls M, Singleton A, Schilder BM, Humphrey J, Marzi SJ, Toomey CE, Kleifat AA, Harshfield EL, Garfield V, Sandor C, Keat S, Tamburin S, Frigerio CS, Lourida I; Deep Dementia Phenotyping (DEMON) Network; Ranson JM, Llewellyn DJ. Bettencourt C, et al. Among authors: botia ja. Alzheimers Dement. 2023 Dec;19(12):5905-5921. doi: 10.1002/alz.13427. Epub 2023 Aug 22. Alzheimers Dement. 2023. PMID: 37606627 Review.
Genome-wide association study stratified by MAPT haplotypes identifies potential novel loci in Parkinson's disease.
Senkevich K, Bandres-Ciga S, Cisterna-García A, Yu E, Bustos BI, Krohn L, Lubbe SJ, Botía JA; International Parkinson’s Disease Genomics Consortium (IPDGC); Gan-Or Z. Senkevich K, et al. Among authors: botia ja. medRxiv [Preprint]. 2023 Apr 15:2023.04.14.23288478. doi: 10.1101/2023.04.14.23288478. medRxiv. 2023. PMID: 37292720 Free PMC article. Preprint.
Splicing accuracy varies across human introns, tissues and age.
García-Ruiz S, Zhang D, Gustavsson EK, Rocamora-Perez G, Grant-Peters M, Fairbrother-Browne A, Reynolds RH, Brenton JW, Gil-Martínez AL, Chen Z, Rio DC, Botia JA, Guelfi S, Collado-Torres L, Ryten M. García-Ruiz S, et al. Among authors: botia ja. bioRxiv [Preprint]. 2023 Mar 30:2023.03.29.534370. doi: 10.1101/2023.03.29.534370. bioRxiv. 2023. PMID: 37034741 Free PMC article. Preprint.
PhenoExam: gene set analyses through integration of different phenotype databases.
Cisterna A, González-Vidal A, Ruiz D, Ortiz J, Gómez-Pascual A, Chen Z, Nalls M, Faghri F, Hardy J, Díez I, Maietta P, Álvarez S, Ryten M, Botía JA. Cisterna A, et al. Among authors: botia ja. BMC Bioinformatics. 2022 Dec 31;23(1):567. doi: 10.1186/s12859-022-05122-x. BMC Bioinformatics. 2022. PMID: 36587217 Free PMC article.
IntroVerse: a comprehensive database of introns across human tissues.
García-Ruiz S, Gustavsson EK, Zhang D, Reynolds RH, Chen Z, Fairbrother-Browne A, Gil-Martínez AL, Botia JA, Collado-Torres L, Ryten M. García-Ruiz S, et al. Among authors: botia ja. Nucleic Acids Res. 2023 Jan 6;51(D1):D167-D178. doi: 10.1093/nar/gkac1056. Nucleic Acids Res. 2023. PMID: 36399497 Free PMC article.
54 results