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Author Details

Gaia Novarino
Institute of Science and Technology Austria (ISTA)
2004
36
19
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37429995Dense 4D nanoscale reconstruction of living brain tissue.Nat Methods2023
37653226Imaging brain tissue architecture across millimeter to nanometer scales.Nat Biotechnol2023
37610741Addressing Global Environmental Challenges to Mental Health Using Population Neuroscience: A Review.JAMA Psychiatry2023
35385734CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories.Cell Rep2022
35675510Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.Brain2022
33081568Complete inhibition of ABCB1 and ABCG2 at the blood-brain barrier by co-infusion of erlotinib and tariquidar to improve brain delivery of the model ABCB1/ABCG2 substrate [<sup>11</sup>C]erlotinib.J Cereb Blood Flow Metab2021
34828352Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment.Genes (Basel)2021
34031387Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development.Nat Commun2021
32118314Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration.EMBO J2020
32659636Molecular mechanisms for targeted ASD treatments.Curr Opin Genet Dev2020
32507511Neurodevelopmental Disorders: From Genetics to Functional Pathways.Trends Neurosci2020
30694684Inhibition of ABCB1 and ABCG2 at the Mouse Blood-Brain Barrier with Marketed Drugs To Improve Brain Delivery of the Model ABCB1/ABCG2 Substrate [<sup>11</sup>C]erlotinib.Mol Pharm2019
30089829CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.Eur J Hum Genet2019
31521639Modeling cell-cell interactions in the brain using cerebral organoids.Brain Res2019
28626029A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.J Med Genet2018
30089840Genomics in neurodevelopmental disorders: an avenue to personalized medicine.Exp Mol Med2018
30455454Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.Nat Neurosci2018
29287246Neural stem cells in neuropsychiatric disorders.Curr Opin Neurobiol2018
27690184Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence.Eur J Neurosci2017
28298426Modeling Alzheimer's disease in mice with human neurons.Sci Transl Med2017
28446686The antisocial side of antibiotics.Sci Transl Med2017
28592569Rett syndrome modeling goes simian.Sci Transl Med2017
28551757Genetic and Pharmacological Reversibility of Phenotypes in Mouse Models of Autism Spectrum Disorder.Adv Anat Embryol Cell Biol2017
28551756Extracerebral Dysfunction in Animal Models of Autism Spectrum Disorder.Adv Anat Embryol Cell Biol2017
27912058Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.Cell2016
25138099Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.Eur J Hum Genet2015
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
24945770Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation.Neuron2014
24094099The sacred disease: the puzzling genetics of epileptic disorders.Neuron2013
22700954Exome sequencing can improve diagnosis and alter patient management.Sci Transl Med2012
22956686Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.Science2012
21962508Modeling human disease in humans: the ciliopathies.Cell2011
20430975Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis.Science2010
20351103Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation.J Biol Chem2010
15757904Substrate binding stoichiometry and kinetics of the norepinephrine transporter.J Biol Chem2005
15190104Involvement of the intracellular ion channel CLIC1 in microglia-mediated beta-amyloid-induced neurotoxicity.J Neurosci2004
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Collaborators

Joseph G Gleeson
University of California
Co-authored papers 8
Jennifer L Silhavy
University of California
Co-authored papers 4
Tawfeg Ben-Omran
Hamad Medical Corporation.
Co-authored papers 4
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 3
Jana Schroth
University of California
Co-authored papers 3
Anide Johansen
Howard Hughes Medical Institute, University of California
Co-authored papers 3
Majdi Kara
University of Tripoli, Tripoli Children's Hospital
Co-authored papers 3
Eric Scott
Rady Children's Institute for Genomic Medicine, University of California
Co-authored papers 3
Ali G Fenstermaker
Howard Hughes Medical Institute, University of California
Co-authored papers 3
Naiara Akizu
University of Pennsylvania
Co-authored papers 3
Stacey Gabriel
Broad Institute of MIT and Harvard
Co-authored papers 3
Ahmet Okay Caglayan
Yale School of Medicine
Co-authored papers 2
Lobna Mansour
Cairo University Children Hospital
Co-authored papers 2
Rasim O Rosti
University of Virginia
Co-authored papers 2
Matloob Azam
Wah Medical College
Co-authored papers 2
Murat Gunel
Yale School of Medicine
Co-authored papers 2
Avner Schlessinger
Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai
Co-authored papers 2
Basak Rosti
Howard Hughes Medical Institute, The Rockefeller University
Co-authored papers 2
Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
Co-authored papers 2
H??lya Kayserili
Istanbul University
Co-authored papers 2
Laila Selim
Cairo University
Co-authored papers 2
Ghada M H Abdel-Salam
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 2
Mahmoud Y Issa
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 2
Sylvie Forlani
ICM DNA and Cell Bank CNRS UMR7225, INSERM U1127, Sorbonne University
Co-authored papers 1
Fanggeng Zou
Cincinnati Children's Hospital Medical Center
Co-authored papers 1
Jumana Y Al-Aama
King AbdulAziz University
Co-authored papers 1
Ali Benomar
Medical School and Pharmacy, University Mohammed V in Rabat
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