Publications

Found 414 results
Author Title Type [ Year(Desc)]
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2024
Feng W, Zhang Y, Wang Z, Wang T, Pang Y, Li Y, Wang Y, Ding S, Chen S, Zou Y et al..  2024.  Protocol for evaluating mutualistic cooperative behavior in mice using a water-reward task assay.. STAR Protoc. 5(2):103023.
Fazal S, Danzi MC, Xu I, Kobren SNadimpalli, Sunyaev S, Reuter C, Marwaha S, Wheeler M, Dolzhenko E, Lucas F et al..  2024.  RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.. Genome Biol. 25(1):39.
Fazal S, Danzi MC, Xu I, Kobren SNadimpalli, Sunyaev S, Reuter C, Marwaha S, Wheeler M, Dolzhenko E, Lucas F et al..  2024.  RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.. Genome Biol. 25(1):39.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P et al..  2024.  RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.. Genet Med. :101347.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P et al..  2024.  RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.. Genet Med. :101347.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P et al..  2024.  RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.. Genet Med. :101347.
Larivière D, Abueg L, Brajuka N, Gallardo-Alba C, Grüning B, Ko BJune, Ostrovsky A, Palmada-Flores M, Pickett BD, Rabbani K et al..  2024.  Scalable, accessible and reproducible reference genome assembly and evaluation in Galaxy.. Nat Biotechnol.
Colognesi M, Shkodra A, Gabbia D, Kawamata H, Manfredi PL, Manfredi G, De Martin S.  2024.  Sex-dependent effects of the uncompetitive N-methyl-D-aspartate receptor antagonist REL-1017 in G93A-SOD1 amyotrophic lateral sclerosis mice.. Front Neurol. 15:1384829.
Peter CJ, Agarwal A, Watanabe R, Kassim BS, Wang X, Lambert TY, Javidfar B, Evans V, Dawson T, Fridrikh M et al..  2024.  Single chromatin fiber profiling and nucleosome position mapping in the human brain.. Cell Rep Methods. 4(12):100911.
Joglekar A, Hu W, Zhang B, Narykov O, Diekhans M, Marrocco J, Balacco J, Ndhlovu LC, Milner TA, Fedrigo O et al..  2024.  Single-cell long-read sequencing-based mapping reveals specialized splicing patterns in developing and adult mouse and human brain.. Nat Neurosci.
Pellerin D, Méreaux J-L, Boluda S, Danzi MC, Dicaire M-J, Davoine C-S, Genis D, Spurdens G, Ashton C, Hammond JM et al..  2024.  Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.. Brain.
Pellerin D, Méreaux J-L, Boluda S, Danzi MC, Dicaire M-J, Davoine C-S, Genis D, Spurdens G, Ashton C, Hammond JM et al..  2024.  Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.. Brain.
Pellerin D, Méreaux J-L, Boluda S, Danzi MC, Dicaire M-J, Davoine C-S, Genis D, Spurdens G, Ashton C, Hammond JM et al..  2024.  Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.. Brain.
Pellerin D, Méreaux J-L, Boluda S, Danzi MC, Dicaire M-J, Davoine C-S, Genis D, Spurdens G, Ashton C, Hammond JM et al..  2024.  Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.. Brain.
Pellerin D, Méreaux J-L, Boluda S, Danzi MC, Dicaire M-J, Davoine C-S, Genis D, Spurdens G, Ashton C, Hammond JM et al..  2024.  Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.. Brain.
Pardo-Palacios FJ, Wang D, Reese F, Diekhans M, Carbonell-Sala S, Williams B, Loveland JE, De María M, Adams MS, Balderrama-Gutierrez G et al..  2024.  Systematic assessment of long-read RNA-seq methods for transcript identification and quantification.. Nat Methods. 21(7):1349-1363.
Pardo-Palacios FJ, Wang D, Reese F, Diekhans M, Carbonell-Sala S, Williams B, Loveland JE, De María M, Adams MS, Balderrama-Gutierrez G et al..  2024.  Systematic assessment of long-read RNA-seq methods for transcript identification and quantification.. Nat Methods. 21(7):1349-1363.
Pardo-Palacios FJ, Wang D, Reese F, Diekhans M, Carbonell-Sala S, Williams B, Loveland JE, De María M, Adams MS, Balderrama-Gutierrez G et al..  2024.  Systematic assessment of long-read RNA-seq methods for transcript identification and quantification.. Nat Methods. 21(7):1349-1363.
Pardo-Palacios FJ, Wang D, Reese F, Diekhans M, Carbonell-Sala S, Williams B, Loveland JE, De María M, Adams MS, Balderrama-Gutierrez G et al..  2024.  Systematic assessment of long-read RNA-seq methods for transcript identification and quantification.. Nat Methods. 21(7):1349-1363.
Pardo-Palacios FJ, Wang D, Reese F, Diekhans M, Carbonell-Sala S, Williams B, Loveland JE, De María M, Adams MS, Balderrama-Gutierrez G et al..  2024.  Systematic assessment of long-read RNA-seq methods for transcript identification and quantification.. Nat Methods. 21(7):1349-1363.
Ke YD, van Hummel A, Au C, Chan G, Lee WSiang, van der Hoven J, Przybyla M, Deng Y, Sabale M, Morey N et al..  2024.  Targeting 14-3-3θ-mediated TDP-43 pathology in amyotrophic lateral sclerosis and frontotemporal dementia mice.. Neuron.
Ke YD, van Hummel A, Au C, Chan G, Lee WSiang, van der Hoven J, Przybyla M, Deng Y, Sabale M, Morey N et al..  2024.  Targeting 14-3-3θ-mediated TDP-43 pathology in amyotrophic lateral sclerosis and frontotemporal dementia mice.. Neuron.
Lopez-Lee C, Kodama L, Fan L, Zhu D, Zhu J, Wong MYing, Ye P, Norman K, Foxe NR, Ijaz L et al..  2024.  Tlr7 drives sex differences in age- and Alzheimer's disease-related demyelination.. Science. 386(6725):eadk7844.
Cheng H, Miller D, Southwell N, Fischer JL, Taylor I, J Salbaum M, Kappen C, Hu F, Yang C, Gross SS et al..  2024.  Untargeted Pixel-by-Pixel Imaging of Metabolite Ratio Pairs as a Novel Tool for Biomedical Discovery in Mass Spectrometry Imaging.. bioRxiv.
Qu W, Lam M, McInvale JJ, Mares JA, Kwon S, Humala N, Mahajan A, Nguyen T, Jakubiak KA, Mun J-Y et al..  2024.  Xenografted human iPSC-derived neurons with the familial Alzheimer's disease APPV717I mutation reveal dysregulated transcriptome signatures linked to synaptic function and implicate LINGO2 as a disease signaling mediator.. Acta Neuropathol. 147(1):107.