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Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.
Hum Genet. 2022 Aug;141(8):1409-1421. doi: 10.1007/s00439-022-02432-1. Epub 2022 Jan 24.
Hum Genet. 2022.
PMID: 35072799
Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq.
Aicher JK, Jewell P, Vaquero-Garcia J, Barash Y, Bhoj EJ.
Aicher JK, et al.
Genet Med. 2020 Jul;22(7):1181-1190. doi: 10.1038/s41436-020-0780-y. Epub 2020 Mar 30.
Genet Med. 2020.
PMID: 32225167
Free PMC article.
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RNA splicing analysis using heterogeneous and large RNA-seq datasets.
Vaquero-Garcia J, Aicher JK, Jewell S, Gazzara MR, Radens CM, Jha A, Norton SS, Lahens NF, Grant GR, Barash Y.
Vaquero-Garcia J, et al. Among authors: aicher jk.
Nat Commun. 2023 Mar 3;14(1):1230. doi: 10.1038/s41467-023-36585-y.
Nat Commun. 2023.
PMID: 36869033
Free PMC article.
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Strain-release arylations for the bis-functionalization of azetidines.
Trauner F, Reiners F, Apaloo-Messan KE, Nißl B, Shahbaz M, Jiang D, Aicher J, Didier D.
Trauner F, et al. Among authors: aicher j.
Chem Commun (Camb). 2022 Feb 17;58(15):2564-2567. doi: 10.1039/d1cc07053c.
Chem Commun (Camb). 2022.
PMID: 35107096
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Random Forest Analysis of Untargeted Metabolomics Data Suggests Increased Use of Omega Fatty Acid Oxidation Pathway in Drosophila Melanogaster Larvae Fed a Medium Chain Fatty Acid Rich High-Fat Diet.
Oza VH, Aicher JK, Reed LK.
Oza VH, et al. Among authors: aicher jk.
Metabolites. 2018 Dec 31;9(1):5. doi: 10.3390/metabo9010005.
Metabolites. 2018.
PMID: 30602659
Free PMC article.
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ChromoShake: a chromosome dynamics simulator reveals that chromatin loops stiffen centromeric chromatin.
Lawrimore J, Aicher JK, Hahn P, Fulp A, Kompa B, Vicci L, Falvo M, Taylor RM 2nd, Bloom K.
Lawrimore J, et al. Among authors: aicher jk.
Mol Biol Cell. 2016 Jan 1;27(1):153-66. doi: 10.1091/mbc.E15-08-0575. Epub 2015 Nov 4.
Mol Biol Cell. 2016.
PMID: 26538024
Free PMC article.
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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL.
Baker PR 2nd, et al. Among authors: aicher j.
Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11.
Brain. 2014.
PMID: 24334290
Free PMC article.
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[The Galt streptococcus causing ulcero-polypous endocarditis in man].
KAHLER J, AICHER J.
KAHLER J, et al. Among authors: aicher j.
Zentralbl Allg Pathol. 1952 Mar-Apr;88(8-9):312-7.
Zentralbl Allg Pathol. 1952.
PMID: 14951819
Undetermined Language.
No abstract available.
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