Ross, Margaret Elizabeth

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selected publications

A single-cell, long-read, isoform-resolved case-control study of FTD reveals cell-type-specific and broad splicing dysregulation in human brain. Cell reports. 2025 Academic Article GET IT
ANA2025 marks important milestones for the ANA and NINDS. Nature reviews. Neurology. 2025 Article GET IT
A spatial long-read approach at near-single-cell resolution reveals developmental regulation of splicing and polyadenylation sites in distinct cortical layers and cell types. Nature communications. 2025 Academic Article GET IT
Times cited: 1
Transparency and ongoing communication with participants in brain organoid research: Consensus of an interdisciplinary working group. Stem cell reports. 2025 Academic Article GET IT
Occludin Acts as a Dynein Adaptor Regulating Permeability and Collateral Angiogenesis. 2025 GET IT
Integrative computational analyses implicate regulatory genomic elements contributing to spina bifida. Genetics in medicine open. 2024 Academic Article GET IT
A novel missense variant in HIKESHI: Clinical phenotype, in vitro functional testing, and potential for gene therapy. 2024 GET IT
Foxp1 suppresses cortical angiogenesis and attenuates HIF-1alpha signaling to promote neural progenitor cell maintenance. EMBO reports. 2024 Academic Article GET IT
Single-cell long-read sequencing-based mapping reveals specialized splicing patterns in developing and adult mouse and human brain. Nature neuroscience. 2024 Academic Article GET IT
Times cited: 45
Fostering Academia-Industry Partnerships to Facilitate Therapeutic Discoveries in Neurology: The Role of ANA as a Catalyst. Annals of neurology. 2024 Academic Article GET IT
Neural tube defects and epigenetics: role of histone post-translational histone modifications. Epigenomics. 2024 Review GET IT
Schizophrenia endothelial cells exhibit higher permeability and altered angiogenesis patterns in patient-derived organoids. Translational psychiatry. 2024 Academic Article GET IT
Times cited: 14
A multi-stem cell basis for craniosynostosis and calvarial mineralization. Nature. 2023 Academic Article GET IT
Times cited: 43
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele. Human molecular genetics. 2023 Academic Article GET IT
Single-cell long-read mRNA isoform regulation is pervasive across mammalian brain regions, cell types, and development. 2023 GET IT
Times cited: 15
CyclinD2-mediated regulation of neurogenic output from the retinal ciliary margin is perturbed in albinism. Neuron. 2022 Academic Article GET IT
Activation of RhoC by regulatory ubiquitination is mediated by LNX1 and suppressed by LIS1. Scientific reports. 2022 Academic Article GET IT
CIC missense variants contribute to susceptibility for spina bifida. Human mutation. 2022 Academic Article GET IT
Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries. Nature genetics. 2022 Academic Article GET IT
Astrocytes derived from ASD individuals alter behavior and destabilize neuronal activity through aberrant Ca²⁺ signaling. Molecular psychiatry. 2022 Academic Article GET IT
Times cited: 49
Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue. Nature biotechnology. 2022 Academic Article GET IT
Times cited: 72
Familial colloid cysts: not a chance occurrence. Journal of neuro-oncology. 2022 Academic Article GET IT
Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia. Molecular genetics & genomic medicine. 2022 Academic Article GET IT
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk. Proceedings of the National Academy of Sciences of the United States of America. 2021 Academic Article GET IT
Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back. Genesis (New York, N.Y. : 2000). 2021 Review GET IT
Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida. Genetics in medicine : official journal of the American College of Medical Genetics. 2021 Academic Article GET IT
A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain. Nature communications. 2021 Academic Article GET IT
Times cited: 127
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. Neuromuscular disorders : NMD. 2020 Academic Article GET IT
Times cited: 3
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida. Human mutation. 2020 Academic Article GET IT
Times cited: 15
Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex. eLife. 2019 Academic Article GET IT
Times cited: 34
The search for genetic determinants of human neural tube defects. Current opinion in pediatrics. 2019 Information Resource GET IT
Times cited: 20
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature genetics. 2019 Academic Article GET IT
Times cited: 36
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Human mutation. 2019 Academic Article GET IT
Times cited: 62
Dominant negative GPR161 rare variants are risk factors of human spina bifida. Human molecular genetics. 2019 Academic Article GET IT
Times cited: 27
Single-cell isoform RNA sequencing characterizes isoforms in thousands of cerebellar cells. Nature biotechnology. 2018 Academic Article GET IT
Times cited: 235
Threshold for neural tube defect risk by accumulated singleton loss-of-function variants. Cell research. 2018 Article GET IT
Times cited: 47
PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia. Genes & development. 2018 Academic Article GET IT
Times cited: 57
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genetics in medicine : official journal of the American College of Medical Genetics. 2018 Academic Article GET IT
Times cited: 115
Mature Hippocampal Neurons Require LIS1 for Synaptic Integrity: Implications for Cognition. Biological psychiatry. 2017 Academic Article GET IT
Times cited: 14
Genomic approaches to the assessment of human spina bifida risk. Birth defects research. 2017 Information Resource GET IT
Times cited: 23
Metabolite profiling of whole murine embryos reveals metabolic perturbations associated with maternal valproate-induced neural tube closure defects. Birth defects research. 2017 Academic Article GET IT
Times cited: 15
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Annals of neurology. 2017 Academic Article GET IT
Times cited: 35
The Ciliary Margin Zone of the Mammalian Retina Generates Retinal Ganglion Cells. Cell reports. 2016 Academic Article GET IT
Times cited: 72
Imaging and rare APOE alleles: Alzheimer disease as a developmental disorder. Neurology. 2016 Editorial Article GET IT
Times cited: 1
Apical versus Basal Neurogenesis Directs Cortical Interneuron Subclass Fate. Cell reports. 2015 Academic Article GET IT
Times cited: 67
Rare LRP6 variants identified in spina bifida patients. Human mutation. 2015 Academic Article GET IT
Times cited: 43
An integrative computational approach for prioritization of genomic variants. PloS one. 2014 Academic Article GET IT
Times cited: 7
Dynamic evolution of clonal epialleles revealed by methclone. Genome biology. 2014 Academic Article GET IT
Times cited: 56
Untargeted metabolite profiling of murine embryos to reveal metabolic perturbations associated with neural tube closure defects. Birth defects research. Part A, Clinical and molecular teratology. 2014 Academic Article GET IT
Times cited: 13
Interneuron precursor transplants in adult hippocampus reverse psychosis-relevant features in a mouse model of hippocampal disinhibition. Proceedings of the National Academy of Sciences of the United States of America. 2014 Academic Article GET IT
Times cited: 75
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature genetics. 2014 Academic Article GET IT
Times cited: 127
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum. American journal of medical genetics. Part A. 2014 Article GET IT
Times cited: 9
Identification of novel CELSR1 mutations in spina bifida. PloS one. 2014 Academic Article GET IT
Times cited: 68
Mutations in planar cell polarity gene SCRIB are associated with spina bifida. PloS one. 2013 Academic Article GET IT
Times cited: 58
LRP6 exerts non-canonical effects on Wnt signaling during neural tube closure. Human molecular genetics. 2013 Academic Article GET IT
Times cited: 40
Lipoprotein receptor-related protein-6 protects the brain from ischemic injury. Stroke. 2013 Academic Article GET IT
Times cited: 21
Lis1 controls dynamics of neuronal filopodia and spines to impact synaptogenesis and social behaviour. EMBO molecular medicine. 2013 Academic Article GET IT
Times cited: 35
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature genetics. 2012 Academic Article GET IT
Times cited: 252
Neural tube closure in mouse whole embryo culture. Journal of visualized experiments : JoVE. 2011 Academic Article GET IT
Times cited: 20
Functional interactions between the LRP6 WNT co-receptor and folate supplementation. Human molecular genetics. 2010 Academic Article GET IT
Times cited: 43
Gene-environment interactions, folate metabolism and the embryonic nervous system. Wiley interdisciplinary reviews. Systems biology and medicine. 2010 Academic Article GET IT
Times cited: 31
Genes and the long and winding road to cortical construction and cognition. Neurobiology of disease. 2010 Editorial Article GET IT
Times cited: 2
Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2009 Academic Article GET IT
Times cited: 101
Mechanistic insights into folate supplementation from Crooked tail and other NTD-prone mutant mice. Birth defects research. Part A, Clinical and molecular teratology. 2009 Information Resource GET IT
Times cited: 20
Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. American journal of medical genetics. Part A. 2009 Academic Article GET IT
Times cited: 19
Cyclin D1 in excitatory neurons of the adult brain enhances kainate-induced neurotoxicity. Neurobiology of disease. 2008 Academic Article GET IT
Times cited: 33
Selective cortical interneuron and GABA deficits in cyclin D2-null mice. Development (Cambridge, England). 2007 Academic Article GET IT
Times cited: 79
Parallel changes in metabolite and expression profiles in crooked-tail mutant and folate-reduced wild-type mice. Human molecular genetics. 2006 Academic Article GET IT
Times cited: 17
Differences in cyclin D2 and D1 protein expression distinguish forebrain progenitor subsets. Cerebral cortex (New York, N.Y. : 1991). 2006 Academic Article GET IT
Times cited: 62
Inducible nitric oxide synthase contributes to gender differences in ischemic brain injury. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 2006 Academic Article GET IT
Times cited: 102
Calcium-dependent interaction of Lis1 with IQGAP1 and Cdc42 promotes neuronal motility. Nature neuroscience. 2005 Academic Article GET IT
Times cited: 130
Crooked tail (Cd) model of human folate-responsive neural tube defects is mutated in Wnt coreceptor lipoprotein receptor-related protein 6. Proceedings of the National Academy of Sciences of the United States of America. 2005 Academic Article GET IT
Times cited: 87
Involvement of kv1 potassium channels in spreading acidification and depression in the cerebellar cortex. Journal of neurophysiology. 2005 Academic Article GET IT
Times cited: 28
Obligatory role of inducible nitric oxide synthase in ischemic preconditioning. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 2005 Academic Article GET IT
Times cited: 100
Prostanoids, not reactive oxygen species, mediate COX-2-dependent neurotoxicity. Annals of neurology. 2004 Academic Article GET IT
Times cited: 127
G protein-coupled receptor-dependent development of human frontal cortex. Science (New York, N.Y.). 2004 Academic Article GET IT
Times cited: 370
Disregulated RhoGTPases and actin cytoskeleton contribute to the migration defect in Lis1-deficient neurons. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2003 Academic Article GET IT
Times cited: 108
L-Arginine increases ischemic injury in wild-type mice but not in iNOS-deficient mice. Brain research. 2003 Academic Article GET IT
Times cited: 34
Attenuation of activity-induced increases in cerebellar blood flow in mice lacking neuronal nitric oxide synthase. American journal of physiology. Heart and circulatory physiology. 2003 Academic Article GET IT
Times cited: 54
Interferon regulatory factor-1 immunoreactivity in neurons and inflammatory cells following ischemic stroke in rodents and humans. Acta neuropathologica. 2002 Academic Article GET IT
Times cited: 28
Brain malformations, epilepsy, and infantile spasms. International review of neurobiology. 2002 Information Resource GET IT
Times cited: 22
Increased susceptibility to ischemic brain injury in cyclooxygenase-1-deficient mice. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 2001 Academic Article GET IT
Times cited: 76
Cyclooxygenase-2 inhibitor ns-398 protects neuronal cultures from lipopolysaccharide-induced neurotoxicity. Stroke. 2001 Academic Article GET IT
Times cited: 128
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics. 2001 Academic Article GET IT
Times cited: 106
Cyclooxygenase-1 participates in selected vasodilator responses of the cerebral circulation. Circulation research. 2001 Academic Article GET IT
Reduced susceptibility to ischemic brain injury and N-methyl-D-aspartate-mediated neurotoxicity in cyclooxygenase-2-deficient mice. Proceedings of the National Academy of Sciences of the United States of America. 2001 Academic Article GET IT
Times cited: 412
Human brain malformations and their lessons for neuronal migration. Annual review of neuroscience. 2001 Information Resource GET IT
Times cited: 198
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. European journal of human genetics : EJHG. 2001 Academic Article GET IT
Times cited: 115
Stellate neurons mediate functional hyperemia in the cerebellar molecular layer. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2000 Academic Article GET IT
Times cited: 49
Gene-dosing effect and persistence of reduction in ischemic brain injury in mice lacking inducible nitric oxide synthase. Brain research. 2000 Academic Article GET IT
Times cited: 83
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. American journal of human genetics. 2000 Academic Article GET IT
Times cited: 105
Cyclooxygenase-2 contributes to functional hyperemia in whisker-barrel cortex. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2000 Academic Article GET IT
Times cited: 238
Crooked tail (Cd) models human folate-responsive neural tube defects. Human molecular genetics. 1999 Academic Article GET IT
Times cited: 62
The cyclooxygenase-2 inhibitor NS-398 ameliorates ischemic brain injury in wild-type mice but not in mice with deletion of the inducible nitric oxide synthase gene. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 1999 Academic Article GET IT
Times cited: 120
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 1999 Academic Article GET IT
Times cited: 187
Cyclooxygenase-2 immunoreactivity in the human brain following cerebral ischemia. Acta neuropathologica. 1999 Academic Article GET IT
Times cited: 145
Age-dependent increase in ischemic brain injury in wild-type mice and in mice lacking the inducible nitric oxide synthase gene. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 1999 Academic Article GET IT
Times cited: 30
Cerebellar histogenesis is disturbed in mice lacking cyclin D2. Development (Cambridge, England). 1999 Academic Article GET IT
Times cited: 163
Inducible nitric oxide synthase expression in human cerebral infarcts. Acta neuropathologica. 1999 Academic Article GET IT
Times cited: 150
The transcription factor interferon regulatory factor 1 is expressed after cerebral ischemia and contributes to ischemic brain injury. The Journal of experimental medicine. 1999 Academic Article GET IT
Times cited: 94
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Annals of neurology. 1999 Academic Article GET IT
Times cited: 136
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Human molecular genetics. 1998 Academic Article GET IT
Times cited: 276
Interaction between inducible nitric oxide synthase and cyclooxygenase-2 after cerebral ischemia. Proceedings of the National Academy of Sciences of the United States of America. 1998 Academic Article GET IT
Times cited: 293
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 1998 Academic Article GET IT
Times cited: 836
Delayed reduction of ischemic brain injury and neurological deficits in mice lacking the inducible nitric oxide synthase gene. The Journal of neuroscience : the official journal of the Society for Neuroscience. 1997 Academic Article GET IT
Times cited: 624
Lack of effect of thyroid hormone on late fetal rat brain development. Endocrinology. 1997 Academic Article GET IT
Times cited: 71
Cyclo-oxygenase-2 gene expression in neurons contributes to ischemic brain damage. The Journal of neuroscience : the official journal of the Society for Neuroscience. 1997 Academic Article GET IT
Times cited: 695
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Human molecular genetics. 1997 Academic Article GET IT
Times cited: 84
Astrotactin (ASTN), a gene for glial-guided neuronal migration, maps to human chromosome 1q25.2. Genomics. 1997 Academic Article GET IT
Times cited: 19
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. Human molecular genetics. 1996 Academic Article GET IT
Times cited: 347
Inducible nitric oxide synthase gene expression in vascular cells after transient focal cerebral ischemia. Stroke. 1996 Academic Article GET IT
Times cited: 295
X-linked malformations of neuronal migration. Neurology. 1996 Information Resource GET IT
Times cited: 206
Aminoguanidine ameliorates and L-arginine worsens brain damage from intraluminal middle cerebral artery occlusion. Stroke. 1996 Academic Article GET IT
Times cited: 158
MN20, a D2 cyclin, is transiently expressed in selected neural populations during embryogenesis. The Journal of neuroscience : the official journal of the Society for Neuroscience. 1996 Academic Article GET IT
Times cited: 44
Regulation of PNMT gene promoter constructs transfected into the TE 671 human medulloblastoma cell line. Neuroscience letters. 1995 Academic Article GET IT
Times cited: 5
Inducible nitric oxide synthase gene expression in brain following cerebral ischemia. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 1995 Academic Article GET IT
Times cited: 435
Marked induction of calcium-independent nitric oxide synthase activity after focal cerebral ischemia. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 1995 Academic Article GET IT
Times cited: 199
MN20, a D2 cyclin found in brain, is implicated in neural differentiation. The Journal of neuroscience : the official journal of the Society for Neuroscience. 1994 Academic Article GET IT
Times cited: 35
ME1 and GE1: basic helix-loop-helix transcription factors expressed at high levels in the developing nervous system and in morphogenetically active regions. The European journal of neuroscience. 1993 Academic Article GET IT
Times cited: 50
Changing patterns of gene expression define four stages of cerebellar granule neuron differentiation. Development (Cambridge, England). 1993 Academic Article GET IT
Times cited: 147
Meander tail reveals a discrete developmental unit in the mouse cerebellum. Proceedings of the National Academy of Sciences of the United States of America. 1990 Academic Article GET IT
Times cited: 97
Identification of a functional glucocorticoid response element in the phenylethanolamine N-methyltransferase promoter using fusion genes introduced into chromaffin cells in primary culture. The Journal of neuroscience : the official journal of the Society for Neuroscience. 1990 Academic Article GET IT
Times cited: 135
Proteins bound at adjacent DNA elements act synergistically to regulate human proenkephalin cAMP inducible transcription. The EMBO journal. 1988 Academic Article GET IT
Times cited: 318
Genes for neurotransmitter synthesis, storage, and uptake. Federation proceedings. 1985 Academic Article GET IT
Times cited: 6
Biochemistry and molecular biology of catecholamine neurons: a single gene or gene family hypothesis. Clinical and experimental hypertension. Part A, Theory and practice. 1984 Academic Article GET IT
Times cited: 2
Immunohistochemical localization of choline acetyltransferase using a monoclonal antibody: a radioautographic method. Neuroscience. 1983 Academic Article GET IT
Times cited: 18
Evidence for the existence of homologous gene coding regions for the catecholamine biosynthetic enzymes. Cold Spring Harbor symposia on quantitative biology. 1983 Academic Article GET IT
Times cited: 37
Antibodies to rat choline acetyltransferase for immunochemistry and immunocytochemistry. Neuroscience letters. 1982 Academic Article GET IT
Times cited: 14
Monoclonal antibodies to tyrosine hydroxylase: production and characterization. Brain research. 1981 Academic Article GET IT
Times cited: 20
Human kidney gamma-glutamyl transpeptidase. Catalytic properties, subunit structure, and localization of the gamma-glutamyl binding site on the light subunit. The Journal of biological chemistry. 1977 Academic Article GET IT
Times cited: 90

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Research

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Co-investigator Network

Funding awarded

Understanding Genetic Complexity in Spina Bifida awarded by National Institute of Child Health & Human Development Principal Investigator 2023 - 2028
missing activity Principal Investigator 2018 - 2024

Determining the role of Glucose transporter 1 in neural development and disease awarded by National Institute of Neurological Disorders & Stroke Co-Investigator 2025 - 2030
missing activity Co-Investigator 2024 - 2025
4/4: Leveraging EHR-linked biobanks for deep phenotyping, polygenic risk score modeling, and outcomes analysis in psychiatric disorders awarded by National Institute of Mental Health Co-Investigator 2019 - 2025
missing activity Co-Investigator 2022 - 2024
missing activity Co-Investigator 2018 - 2024

missing activity Key Personnel 2021 - 2024

Epilepsy Multiplatform Variant Prediction (EpiMVP) awarded by National Heart, Lung, & Blood Institute Principal Investigator Subaward 2020 - 2025
missing activity Principal Investigator Subaward 2019 - 2024

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Background

education and training

M.D., Cornell University Medical College 79
Ph.D., Cornell University Graduate School of Medical Sciences 1982
B.A., State University of New York at Binghamton 1975

Contact

full name

Margaret Elizabeth Ross

primary email

mer2005@med.cornell.edu

VIVO Weill Cornell Medical College

Margaret Elizabeth Ross Professor of Neuroscience

Publications

selected publications

Research

Funding awarded

Background

education and training

Contact

full name

primary email

Phone

Publications

selected publications

Research

Funding awarded

Background

education and training

Contact

full name

primary email