Feil Family Brain & Mind Research Institute

Publications

Found 392 results
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2024
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.
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.
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.
Gong B, Li D, Łabaj PP, Pan B, Novoradovskaya N, Thierry-Mieg D, Thierry-Mieg J, Chen G, Lucas ABergstrom, LoCoco JS et al..  2024.  Targeted DNA-seq and RNA-seq of Reference Samples with Short-read and Long-read Sequencing.. Sci Data. 11(1):892.
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.
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.
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.
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.
2023
Boato F, Guan X, Zhu Y, Ryu Y, Voutounou M, Rynne C, Freschlin CR, Zumbo P, Betel D, Matho K et al..  2023.  Activation of MAP2K signaling by genetic engineering or HF-rTMS promotes corticospinal axon sprouting and functional regeneration.. Sci Transl Med. 15(677):eabq6885.
Barbier M, Rajamani KThirtamara, Netser S, Wagner S, Harony-Nicolas H.  2023.  Altered neural activity in the mesoaccumbens pathway underlies impaired social reward processing in Shank3-deficient rats.. bioRxiv.
Lee H, Lee K, Kim YDae, Nam HSuk, Lee HSun, Cho S, Heo JHoe.  2023.  Association between substantia nigra degeneration and functional outcome in patients with basal ganglia infarction.. Eur J Neurol.
Uekawa K, Hattori Y, Ahn SJi, Seo J, Casey N, Anfray A, Zhou P, Luo W, Anrather J, Park L et al..  2023.  Border-associated macrophages promote cerebral amyloid angiopathy and cognitive impairment through vascular oxidative stress.. Mol Neurodegener. 18(1):73.
Dorkenwald S, Schneider-Mizell CM, Brittain D, Halageri A, Jordan C, Kemnitz N, Castro MA, Silversmith W, Maitin-Shephard J, Troidl J et al..  2023.  CAVE: Connectome Annotation Versioning Engine.. bioRxiv.
Iadecola C, Anfray A, Schaeffer S, Hattori Y, Santisteban M, Casey N, Wang G, Strickland M, Zhou P, Holtzman D et al..  2023.  Cell autonomous role of border associated macrophages in ApoE4 neurovascular dysfunction and susceptibility to white matter injury.. Res Sq.
Iadecola C, Anfray A, Schaeffer S, Hattori Y, Santisteban M, Casey N, Wang G, Strickland M, Zhou P, Holtzman D et al..  2023.  Cell autonomous role of border associated macrophages in ApoE4 neurovascular dysfunction and susceptibility to white matter injury.. Res Sq.
Schneider-Mizell CM, Bodor A, Brittain D, Buchanan JA, Bumbarger DJ, Elabbady L, Kapner D, Kinn S, Mahalingam G, Seshamani S et al..  2023.  Cell-type-specific inhibitory circuitry from a connectomic census of mouse visual cortex.. bioRxiv.