Feil Family Brain & Mind Research Institute

Publications

Found 29 results
Author Title [ Type(Desc)] Year
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Journal Article
Kholmanskikh S, Singh S, M Ross E.  2022.  Activation of RhoC by regulatory ubiquitination is mediated by LNX1 and suppressed by LIS1.. Sci Rep. 12(1):16493.
Vo ML, Levy T, Lakhani S, Wang C, M Ross E.  2022.  Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia.. Mol Genet Genomic Med. :e1906.
Allen M, Huang BS, Notaras MJ, Lodhi A, Barrio-Alonso E, Lituma PJ, Wolujewicz P, Witztum J, Longo F, Chen M et al..  2022.  Astrocytes derived from ASD individuals alter behavior and destabilize neuronal activity through aberrant Ca2+ signaling.. Mol Psychiatry.
Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J-B, Carmignac V, Garret P et al..  2020.  Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. Nat Genet.
Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J-B, Carmignac V, Garret P et al..  2019.  Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. Nat Genet.
Han X, Cao X, Aguiar-Pulido V, Yang W, Karki M, Ramirez PAndrea Pim, Cabrera RM, Lin YLinda, Wlodarczyk BJ, Shaw GM et al..  2022.  CIC missense variants contribute to susceptibility for spina bifida.. Hum Mutat.
Mirzaa G, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S et al..  2014.  De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.. Nat Genet. 46(5):510-515.
Buth JE, Dyevich CE, Rubin A, Wang C, Gao L, Marks T, Harrison MRm, Kong JH, M Ross E, Novitch BG et al..  2024.  Foxp1 suppresses cortical angiogenesis and attenuates HIF-1alpha signaling to promote neural progenitor cell maintenance.. EMBO Rep.
A Banday R, Stanifer ML, Florez-Vargas O, Onabajo OO, Papenberg BW, Zahoor MA, Mirabello L, Ring TJ, Lee C-H, Albert PS et al..  2022.  Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.. Nat Genet.
Wolujewicz P, Aguiar-Pulido V, AbdelAleem A, Nair V, Thareja G, Suhre K, Shaw GM, Finnell RH, Elemento O, M Ross E.  2021.  Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.. Genet Med.
M Ross E, Mason CE, Finnell RH.  2017.  Genomic approaches to the assessment of human spina bifida risk.. Birth Defects Res. 109(2):120-128.
Wolujewicz P, Aguiar-Pulido V, Thareja G, Suhre K, Elemento O, Finnell RH, M Ross E.  2024.  Integrative computational analyses implicate regulatory genomic elements contributing to spina bifida.. Genet Med Open. 2:101894.
Sudarov A, Zhang X-J, Braunstein L, LoCastro E, Singh S, Taniguchi Y, Raj A, Shi S-H, Moore H, M Ross E.  2017.  Mature Hippocampal Neurons Require LIS1 for Synaptic Integrity: Implications for Cognition.. Biol Psychiatry.
Akimova D, Wlodarczyk BJ, Lin Y, M Ross E, Finnell RH, Chen Q, Gross SS.  2017.  Metabolite profiling of whole murine embryos reveals metabolic perturbations associated with maternal valproate-induced neural tube closure defects.. Birth Defects Res. 109(2):106-119.
Bok S, Yallowitz AR, Sun J, McCormick J, Cung M, Hu L, Lalani S, Li Z, Sosa BR, Baumgartner T et al..  2023.  A multi-stem cell basis for craniosynostosis and calvarial mineralization.. Nature. 621(7980):804-812.
Elsaid MFawzi, Chalhoub N, Ben-Omran T, Kumar P, Kamel H, Ibrahim K, Mohamoud Y, Al-Dous E, Al-Azwani I, Malek JA et al..  2017.  Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.. Ann Neurol. 81(1):68-78.
V RPardo, Finnell RH, M Ross E, Alarcón P, Suazo J.  2024.  Neural tube defects and epigenetics: role of histone post-translational histone modifications.. Epigenomics.
Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J-B, Carmignac V, Garret P et al..  2019.  Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. Nat Genet.
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.
Wolujewicz P, M Ross E.  2019.  The search for genetic determinants of human neural tube defects.. Curr Opin Pediatr. 31(6):739-746.
Wolujewicz P, M Ross E.  2019.  The search for genetic determinants of human neural tube defects.. Curr Opin Pediatr.
Gupta I, Collier PG, Haase B, Mahfouz A, Joglekar A, Floyd T, Koopmans F, Barres B, Smit AB, Sloan SA et al..  2018.  Single-cell isoform RNA sequencing characterizes isoforms in thousands of cerebellar cells.. Nat Biotechnol.
Joglekar A, Hu W, Zhang B, Narykov O, Diekhans M, Balacco J, Ndhlovu LC, Milner TA, Fedrigo O, Jarvis ED et al..  2023.  Single-cell long-read mRNA isoform regulation is pervasive across mammalian brain regions, cell types, and development.. bioRxiv.
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.
Hardwick SA, Hu W, Joglekar A, Fan L, Collier PG, Foord C, Balacco J, Lanjewar S, Sampson MMcGuirk, Koopmans F et al..  2022.  Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue.. Nat Biotechnol.