Feil Family Brain & Mind Research Institute

Publications

Found 830 results
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2024
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.
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.
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.
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.
Stankovic I, Notaras M, Wolujewicz P, Lu T, Lis R, M Ross E, Colak D.  2024.  Schizophrenia endothelial cells exhibit higher permeability and altered angiogenesis patterns in patient-derived organoids.. Transl Psychiatry. 14(1):53.
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.
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.
Netzer WJ, Sinha A, Ghias M, Chang E, Gindinova K, Mui E, Seo J-S, Sinha SC.  2024.  Stretching the structural envelope of imatinib to reduce β-amyloid production by modulating both β- and γ-secretase cleavages of APP.. Front Chem. 12:1381205.
Netzer WJ, Sinha A, Ghias M, Chang E, Gindinova K, Mui E, Seo J-S, Sinha SC.  2024.  Stretching the structural envelope of imatinib to reduce β-amyloid production by modulating both β- and γ-secretase cleavages of APP.. Front Chem. 12:1381205.
Netzer WJ, Sinha A, Ghias M, Chang E, Gindinova K, Mui E, Seo J-S, Sinha SC.  2024.  Stretching the structural envelope of imatinib to reduce β-amyloid production by modulating both β- and γ-secretase cleavages of APP.. Front Chem. 12:1381205.
Carnazza KE, Komer LE, Xie YXue, Pineda A, Briano JAntonio, Gao V, Na Y, Ramlall T, Buchman VL, Eliezer D et al..  2024.  Synaptic vesicle binding of α-synuclein is modulated by β- and γ-synucleins.. Cell Rep. 43(5):114280.
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.