Ross, Margaret Elizabeth

Publications

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selected publications

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. bioRxiv : the preprint server for biology. 2023 Article GET IT
Times cited: 13
CyclinD2-mediated regulation of neurogenic output from the retinal ciliary margin is perturbed in albinism. Neuron. 2022 Academic Article GET IT
Times cited: 2
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
Times cited: 17
Astrocytes derived from ASD individuals alter behavior and destabilize neuronal activity through aberrant Ca²⁺ signaling. Molecular psychiatry. 2022 Academic Article GET IT
Times cited: 12
Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue. Nature biotechnology. 2022 Academic Article GET IT
Times cited: 15
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
Times cited: 5
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
Times cited: 8
Author Correction: Threshold for neural tube defect risk by accumulated singleton loss-of-function variants. Cell research. 2021 Article 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
Times cited: 5
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: 54
Unlocking the genetic complexity of congenital hydrocephalus. Nature medicine. 2020 Comment GET IT
Times cited: 5
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: 9
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature genetics. 2020 Academic Article GET IT
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: 12
Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex. eLife. 2019 Academic Article GET IT
Times cited: 21
The search for genetic determinants of human neural tube defects. Current opinion in pediatrics. 2019 Review GET IT
Times cited: 11
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature genetics. 2019 Article GET IT
Times cited: 2
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature genetics. 2019 Academic Article GET IT
Times cited: 23
Author Correction: Threshold for neural tube defect risk by accumulated singleton loss-of-function variants. Cell research. 2019 Article GET IT
Times cited: 1
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Human mutation. 2019 Academic Article GET IT
Times cited: 42
Dominant negative GPR161 rare variants are risk factors of human spina bifida. Human molecular genetics. 2019 Academic Article GET IT
Times cited: 18
Single-cell isoform RNA sequencing characterizes isoforms in thousands of cerebellar cells. Nature biotechnology. 2018 Academic Article GET IT
Times cited: 147
Threshold for neural tube defect risk by accumulated singleton loss-of-function variants. Cell research. 2018 Letter GET IT
Times cited: 35
PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia. Genes & development. 2018 Academic Article GET IT
Times cited: 43
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: 77
Mature Hippocampal Neurons Require LIS1 for Synaptic Integrity: Implications for Cognition. Biological psychiatry. 2017 Academic Article GET IT
Times cited: 8
Wiring the Human Brain: A User's Handbook. Neuron. 2017 Review GET IT
Times cited: 6
Genomic approaches to the assessment of human spina bifida risk. Birth defects research. 2017 Review GET IT
Times cited: 19
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: 11
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Annals of neurology. 2017 Academic Article GET IT
Times cited: 54
The Ciliary Margin Zone of the Mammalian Retina Generates Retinal Ganglion Cells. Cell reports. 2016 Academic Article GET IT
Times cited: 57
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: 56
Rare LRP6 variants identified in spina bifida patients. Human mutation. 2015 Academic Article GET IT
Times cited: 39
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: 50
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: 11
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: 61
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: 101
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 Letter GET IT
Times cited: 12
Identification of novel CELSR1 mutations in spina bifida. PloS one. 2014 Academic Article GET IT
Times cited: 53
Mutations in planar cell polarity gene SCRIB are associated with spina bifida. PloS one. 2013 Academic Article GET IT
Times cited: 48
LRP6 exerts non-canonical effects on Wnt signaling during neural tube closure. Human molecular genetics. 2013 Academic Article GET IT
Times cited: 35
Lipoprotein receptor-related protein-6 protects the brain from ischemic injury. Stroke. 2013 Academic Article GET IT
Times cited: 19
Lis1 controls dynamics of neuronal filopodia and spines to impact synaptogenesis and social behaviour. EMBO molecular medicine. 2013 Academic Article GET IT
Times cited: 31
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature genetics. 2012 Academic Article GET IT
Times cited: 209
Neural tube closure in mouse whole embryo culture. Journal of visualized experiments : JoVE. 2011 Academic Article GET IT
Times cited: 20
Cell cycle regulation and interneuron production. Developmental neurobiology. 2011 Review GET IT
Times cited: 11
Functional interactions between the LRP6 WNT co-receptor and folate supplementation. Human molecular genetics. 2010 Academic Article GET IT
Times cited: 38
Genes and the long and winding road to cortical construction and cognition. Neurobiology of disease. 2010 Editorial Article GET IT
Times cited: 1
Gene-environment interactions, folate metabolism and the embryonic nervous system. Wiley interdisciplinary reviews. Systems biology and medicine. 2010 Academic Article GET IT
Times cited: 28
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: 93
Mechanistic insights into folate supplementation from Crooked tail and other NTD-prone mutant mice. Birth defects research. Part A, Clinical and molecular teratology. 2009 Review GET IT
Times cited: 19
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: 16
Cyclin D1 in excitatory neurons of the adult brain enhances kainate-induced neurotoxicity. Neurobiology of disease. 2008 Academic Article GET IT
Times cited: 29
The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 2008 Academic Article GET IT
Times cited: 34
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. 2007 GET IT
Times cited: 17
Selective cortical interneuron and GABA deficits in cyclin D2-null mice. Development (Cambridge, England). 2007 Academic Article GET IT
Times cited: 73
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. 2007 GET IT
Times cited: 64
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: 70
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: 110
Calcium-dependent interaction of Lis1 with IQGAP1 and Cdc42 promotes neuronal motility. Nature neuroscience. 2005 Academic Article GET IT
Times cited: 143
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: 84
Involvement of kv1 potassium channels in spreading acidification and depression in the cerebellar cortex. Journal of neurophysiology. 2005 Academic Article GET IT
Times cited: 31
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: 103
Prostanoids, not reactive oxygen species, mediate COX-2-dependent neurotoxicity. Annals of neurology. 2004 Academic Article GET IT
Times cited: 132
G protein-coupled receptor-dependent development of human frontal cortex. Science (New York, N.Y.). 2004 Academic Article GET IT
Times cited: 426
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: 105
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: 59
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: 29
Full circle to cobbled brain. Nature. 2002 Comment GET IT
Times cited: 16
Brain malformations, epilepsy, and infantile spasms. International review of neurobiology. 2002 Review 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: 129
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics. 2001 Academic Article GET IT
Times cited: 118
Cyclooxygenase-1 participates in selected vasodilator responses of the cerebral circulation. Circulation research. 2001 Academic Article GET IT
Times cited: 171
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: 402
Human brain malformations and their lessons for neuronal migration. Annual review of neuroscience. 2001 Review GET IT
Times cited: 212
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: 127
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: 46
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: 89
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: 100
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: 223
Crooked tail (Cd) models human folate-responsive neural tube defects. Human molecular genetics. 1999 Academic Article GET IT
Times cited: 65
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: 123
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 1999 Academic Article GET IT
Times cited: 196
Cyclooxygenase-2 immunoreactivity in the human brain following cerebral ischemia. Acta neuropathologica. 1999 Academic Article GET IT
Times cited: 153
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: 33
Cerebellar histogenesis is disturbed in mice lacking cyclin D2. Development (Cambridge, England). 1999 Academic Article GET IT
Times cited: 169
Inducible nitric oxide synthase expression in human cerebral infarcts. Acta neuropathologica. 1999 Academic Article GET IT
Times cited: 158
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: 89
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Annals of neurology. 1999 Academic Article GET IT
Times cited: 144
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Human molecular genetics. 1998 Academic Article GET IT
Times cited: 300
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: 283
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: 891
Molecular pathology of cerebral ischemia: delayed gene expression and strategies for neuroprotection. Annals of the New York Academy of Sciences. 1997 Review GET IT
Times cited: 102
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: 606
Lack of effect of thyroid hormone on late fetal rat brain development. Endocrinology. 1997 Academic Article GET IT
Times cited: 74
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: 683
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: 86
Astrotactin (ASTN), a gene for glial-guided neuronal migration, maps to human chromosome 1q25.2. Genomics. 1997 Academic Article GET IT
Times cited: 20
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: 357
Inducible nitric oxide synthase gene expression in vascular cells after transient focal cerebral ischemia. Stroke. 1996 Academic Article GET IT
Times cited: 305
X-linked malformations of neuronal migration. Neurology. 1996 Review GET IT
Times cited: 223
Aminoguanidine ameliorates and L-arginine worsens brain damage from intraluminal middle cerebral artery occlusion. Stroke. 1996 Academic Article GET IT
Times cited: 161
Cell division and the nervous system: regulating the cycle from neural differentiation to death. Trends in neurosciences. 1996 Review GET IT
Times cited: 139
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: 42
Nitric oxide synthase expression in cerebral ischemia: neurochemical, immunocytochemical, and molecular approaches. Methods in enzymology. 1996 Review GET IT
Times cited: 9
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: 457
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: 204
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: 33
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: 51
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: 93
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: 121
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: 266
Genes for neurotransmitter synthesis, storage, and uptake. Federation proceedings. 1985 Academic Article GET IT
Times cited: 7
Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings. 1985 GET IT
Times cited: 75
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: 93

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Research

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Funding awarded

Progenitor Regulation Underlying Cortical Interneuron Specification awarded by National Institute of Neurological Disorders & Stroke Principal Investigator 2018 - 2024

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 - 2024
New York City Consortium for Precision Medicine (supplement to WBS 5290028905) 3OT2OD026556-01S5 Pilot 1 awarded by National Institute of Environmental Health Sciences Co-Investigator 2022 - 2023
New York City Consortium for Precision Medicine (All of Us Research Program at WCM) awarded by National Institute of Environmental Health Sciences Co-Investigator 2018 - 2023

NARSAD Young Investigator Grant awarded by Brain & Behavior Research Foundation Key Personnel 2021 - 2024
The Role of Layer I Interneurons in the Activity-Dependent Assembly of the Somatosensory Cortex awarded by National Institute of Child Health & Human Development Key Personnel 2020 - 2023

Epilepsy Multiplatform Variant Prediction (EpiMVP) awarded by National Heart, Lung, & Blood Institute Principal Investigator Subaward 2020 - 2025
Quantitative Imaging of Mouse Brain Development (CG) awarded by Defense Advanced Research Projects Agency (DARPA) Principal Investigator Subaward 2019 - 2024

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Background

education and training

Ph.D., Cornell University Graduate School of Medical Sciences 1982
M.D., Cornell University Medical College 1979
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