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Found 28 results
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Ross, M Elizabeth
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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.
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.
Allen M
,
Huang BS
,
Notaras MJ
,
Lodhi A
,
Barrio-Alonso E
,
Lituma PJ
,
Wolujewicz P
,
Witztum J
,
Longo F
,
Chen M
et al.
. 2022.
Spontaneous generation of ASD astrocytes.
.
Mol Psychiatry. 27(5):2369.
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