Knaus, Lisa, Bernadette Basilico, Daniel Malzl, Maria Gerykova Bujalkova, Mateja Smogavec, Lena A. Schwarz, Sarah Gorkiewicz, et al. “Large Neutral Amino Acid Levels Tune Perinatal Neuronal Excitability and Survival.”https://doi.org/10.1016/j.cell.2023.02.037__Cell. Elsevier, 2023.https://doi.org/10.1016/j.cell.2023.02.037 .

Danzl, Johann G. “Research Data for the Publication ‘Imaging Brain Tissue Architecture across Millimeter to Nanometer Scales.’”https://doi.org/10.15479/AT:ISTA:13126__Institute of Science and Technology Austria, 2023.https://doi.org/10.15479/AT:ISTA:13126 .

Michalska, Julia M, Julia Lyudchik, Philipp Velicky, Hana Korinkova, Jake Watson, Alban Cenameri, Christoph M Sommer, et al. “Imaging Brain Tissue Architecture across Millimeter to Nanometer Scales.”https://doi.org/10.1038/s41587-023-01911-8__Nature Biotechnology. Springer Nature, 2023.https://doi.org/10.1038/s41587-023-01911-8 .

Basilico, Bernadette, Laura Ferrucci, Azka Khan, Silvia Di Angelantonio, Davide Ragozzino, and Ingrid Reverte. “What Microglia Depletion Approaches Tell Us about the Role of Microglia on Synaptic Function and Behavior.”https://doi.org/10.3389/fncel.2022.1022431__Frontiers in Cellular Neuroscience. Frontiers Media, 2022.https://doi.org/10.3389/fncel.2022.1022431 .

Guerrini, Renzo, Davide Mei, Margit Katalin Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, et al. “Phenotypic and Genetic Spectrum of ATA Encephalopathy: A Disorder of Lysosomal Homeostasis.”https://doi.org/10.1093/brain/awac145__Brain. Oxford University Press, 2022.https://doi.org/10.1093/brain/awac145 .

Basilico, Bernadette, Ilaria Elena Palamà, Stefania D’Amone, Clotilde Lauro, Maria Rosito, Maddalena Grieco, Patrizia Ratano, et al. “Substrate Stiffness Effect on Molecular Crosstalk of Epithelial-Mesenchymal Transition Mediators of Human Glioblastoma Cells.”https://doi.org/10.3389/fonc.2022.983507__Frontiers in Oncology. Frontiers Media, 2022.https://doi.org/10.3389/fonc.2022.983507 .

Basilico, Bernadette, Laura Ferrucci, Patrizia Ratano, Maria T. Golia, Alfonso Grimaldi, Maria Rosito, Valentina Ferretti, et al. “Microglia Control Glutamatergic Synapses in the Adult Mouse Hippocampus.”https://doi.org/10.1002/glia.24101__Glia. Wiley, 2022.https://doi.org/10.1002/glia.24101 .

Palacín, Manuel, Stefan Bröer, and Gaia Novarino. “Amino Acid Transport Defects.”https://doi.org/10.1007/978-3-030-67727-5_18__In Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, edited by Nenad Blau, Carlo Dionisi Vici, Carlos R.https://doi.org/10.1007/978-3-030-67727-5_18__Ferreira, Christine Vianey-Saban, and Clara D.M. van Karnebeek, 2nd ed., 291–312. Cham: Springer Nature, 2022.https://doi.org/10.1007/978-3-030-67727-5_18 .

Villa, Carlo Emanuele, Cristina Cheroni, Christoph Dotter, Alejandro López-Tóbon, Bárbara Oliveira, Roberto Sacco, Aysan Çeraf Yahya, et al. “CH Haploinsufficiency Links Autism to Transient Alterations in Excitatory and Inhibitory Trajectories.”https://doi.org/10.1016/j.celrep.2022.110615__Cell Reports. Elsevier, 2022.https://doi.org/10.1016/j.celrep.2022.110615 .

Dotter, Christoph. “Transcriptional Consequences of Mutations in Genes Associated with Autism Spectrum Disorder.”https://doi.org/10.15479/at:ista:12094__Institute of Science and Technology Austria, 2022.https://doi.org/10.15479/at:ista:12094 .

Velicky, Philipp, Eder Miguel Villalba, Julia M Michalska, Donglai Wei, Zudi Lin, Jake Watson, Jakob Troidl, et al. “Saturated Reconstruction of Living Brain Tissue.”https://doi.org/10.1101/2022.03.16.484431__BioRxiv. Cold Spring Harbor Laboratory, n.d.https://doi.org/10.1101/2022.03.16.484431 .

Michalska, Julia M, Julia Lyudchik, Philipp Velicky, Hana Korinkova, Jake Watson, Alban Cenameri, Christoph M Sommer, et al. “Uncovering Brain Tissue Architecture across Scales with Super-Resolution Light Microscopy.”https://doi.org/10.1101/2022.08.17.504272__BioRxiv. Cold Spring Harbor Laboratory, n.d.https://doi.org/10.1101/2022.08.17.504272 .

Vasic, Verica, Mattson S.O. Jones, Denise Haslinger, Lisa Knaus, Michael J. Schmeisser, Gaia Novarino, and Andreas G. Chiocchetti. “Translating the Role of Mtor-and Ras-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment.”https://doi.org/10.3390/genes12111746__Genes. MDPI, 2021.https://doi.org/10.3390/genes12111746 .

Conde-Dusman, María J, Partha N Dey, Óscar Elía-Zudaire, Luis E Garcia Rabaneda, Carmen García-Lira, Teddy Grand, Victor Briz, et al. “Control of Protein Synthesis and Memory by GluN3A-NMDA Receptors through Inhibition of GI/MTOR Assembly.”https://doi.org/10.7554/elife.71575__ELife. eLife Sciences Publications, 2021.https://doi.org/10.7554/elife.71575 .

Picard, Katherine, Kanchan Bisht, Silvia Poggini, Stefano Garofalo, Maria Teresa Golia, Bernadette Basilico, Fatima Abdallah, et al. “Microglial-Glucocorticoid Receptor Depletion Alters the Response of Hippocampal Microglia and Neurons in a Chronic Unpredictable Mild Stress Paradigm in Female Mice.”https://doi.org/10.1016/j.bbi.2021.07.022__Brain, Behavior, and Immunity. Elsevier, 2021.https://doi.org/10.1016/j.bbi.2021.07.022 .

Tournier, N, S Goutal, S Mairinger, IH Lozano, T Filip, M Sauberer, F Caillé, et al. “Complete Inhibition of ABC and ABC at the Blood-Brain Barrier by Co-Infusion of Erlotinib and Tariquidar to Improve Brain Delivery of the Model ABC/ABC Substrate [11C]Erlotinib.”https://doi.org/10.1177/0271678X20965500__Journal of Cerebral Blood Flow and Metabolism. SAGE Publications, 2021.https://doi.org/10.1177/0271678X20965500 .

Cordella, Federica, Caterina Sanchini, Maria Rosito, Laura Ferrucci, Natalia Pediconi, Barbara Cortese, Francesca Guerrieri, et al. “Antibiotics Treatment Modulates Microglia–Synapses Interaction.”https://doi.org/10.3390/cells10102648__Cells. MDPI, 2021.https://doi.org/10.3390/cells10102648 .

Morandell, Jasmin, Lena A Schwarz, Bernadette Basilico, Saren Tasciyan, Georgi A Dimchev, Armel Nicolas, Christoph M Sommer, et al. “Cul3 Regulates Cytoskeleton Protein Homeostasis and Cell Migration during a Critical Window of Brain Development.”https://doi.org/10.1038/s41467-021-23123-x__Nature Communications. Springer Nature, 2021.https://doi.org/10.1038/s41467-021-23123-x .

Avagliano, Laura, Ilaria Parenti, Paolo Grazioli, Elisabetta Di Fede, Chiara Parodi, Milena Mariani, Frank J. Kaiser, Angelo Selicorni, Cristina Gervasini, and Valentina Massa. “Chromatinopathies: A Focus on Cornelia de Lange Syndrome.”https://doi.org/10.1111/cge.13674__Clinical Genetics. Wiley, 2020.https://doi.org/10.1111/cge.13674 .

Latorre-Pellicer, Ana, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo, Cristina Lucia-Campos, Rebeca Antoñanzas-Pérez, et al. “Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.”https://doi.org/10.3390/ijms21031042__International Journal of Molecular Sciences. MDPI, 2020.https://doi.org/10.3390/ijms21031042 .

Weinert, Stefanie, Niclas Gimber, Dorothea Deuschel, Till Stuhlmann, Dmytro Puchkov, Zohreh Farsi, Carmen F. Ludwig, et al. “Uncoupling Endosomal CLC Chloride/Proton Exchange Causes Severe Neurodegeneration.”https://doi.org/10.15252/embj.2019103358__EMBO Journal. EMBO Press, 2020.https://doi.org/10.15252/embj.2019103358 .

Parenti, Ilaria, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casa, Riccardo Berutti, Rutger W.W. Brouwer, et al. “MA and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.”https://doi.org/10.1016/j.celrep.2020.107647__Cell Reports. Elsevier, 2020.https://doi.org/10.1016/j.celrep.2020.107647 .

Parenti, Ilaria, Luis E Garcia Rabaneda, Hanna Schön, and Gaia Novarino. “Neurodevelopmental Disorders: From Genetics to Functional Pathways.”https://doi.org/10.1016/j.tins.2020.05.004__Trends in Neurosciences. Elsevier, 2020.https://doi.org/10.1016/j.tins.2020.05.004 .

Morandell, Jasmin. “Illuminating the Role of Cul3 in Autism Spectrum Disorder Pathogenesis.”https://doi.org/10.15479/AT:ISTA:8620__Institute of Science and Technology Austria, 2020.https://doi.org/10.15479/AT:ISTA:8620 .

Morandell, Jasmin, Lena A Schwarz, Bernadette Basilico, Saren Tasciyan, Armel Nicolas, Christoph M Sommer, Caroline Kreuzinger, et al. “Cul3 Regulates Cytoskeleton Protein Homeostasis and Cell Migration during a Critical Window of Brain Development.”https://doi.org/10.1101/2020.01.10.902064 __BioRxiv. Cold Spring Harbor Laboratory, n.d.https://doi.org/10.1101/2020.01.10.902064  .

Basilico, Bernadette, Jasmin Morandell, and Gaia Novarino. “Molecular Mechanisms for Targeted ASD Treatments.”https://doi.org/10.1016/j.gde.2020.06.004__Current Opinion in Genetics and Development. Elsevier, 2020.https://doi.org/10.1016/j.gde.2020.06.004 .

Marsh, Ashley, Gaia Novarino, Paul Lockhart, and Richard Leventer. “CUGC for Pontocerebellar Hypoplasia Type 9 and Spastic Paraplegia-63.”https://doi.org/10.1038/s41431-018-0231-2__European Journal of Human Genetics. Springer Nature, 2019.https://doi.org/10.1038/s41431-018-0231-2 .

Traxl, Alexander, Severin Mairinger, Thomas Filip, Michael Sauberer, Johann Stanek, Stefan Poschner, Walter Jäger, et al. “Inhibition of ABC and ABC at the Mouse Blood-Brain Barrier with Marketed Drugs to Improve Brain Delivery of the Model ABC/ABC Substrate [11C]Erlotinib.”https://doi.org/10.1021/acs.molpharmaceut.8b01217__Molecular Pharmaceutics. American Chemical Society, 2019.https://doi.org/10.1021/acs.molpharmaceut.8b01217 .

Éltes, Tímea, Miklos Szoboszlay, Margit Katalin Szigeti, and Zoltan Nusser. “Improved Spike Inference Accuracy by Estimating the Peak Amplitude of Unitary [C+] Transients in Weakly GCaMf-Expressing Hippocampal Pyramidal Cells.”https://doi.org/10.1113/JP277681__Journal of Physiology. Wiley, 2019.https://doi.org/10.1113/JP277681 .

Oliveira, Bárbara, Aysan Çeraf Yahya, and Gaia Novarino. “Modeling Cell-Cell Interactions in the Brain Using Cerebral Organoids.”https://doi.org/10.1016/j.brainres.2019.146458__Brain Research. Elsevier, 2019.https://doi.org/10.1016/j.brainres.2019.146458 .

Morandell, Jasmin, Armel Nicolas, Lena A Schwarz, and Gaia Novarino. “S.16.05 Illuminating the Role of thehttps://doi.org/10.1016/j.euroneuro.2019.09.040__Ubiquitin Ligase Cullin3 in Brain Development and Autism.”https://doi.org/10.1016/j.euroneuro.2019.09.040__European Neuropsychopharmacology. Elsevier, 2019.https://doi.org/10.1016/j.euroneuro.2019.09.040 .

Knaus, Lisa, Dora-Clara Tarlungeanu, and Gaia Novarino. “S.16.03 A Homozygous Missense Mutation in SL Leads to Autism Spectrum Disorder and Microcephaly.”https://doi.org/10.1016/j.euroneuro.2019.09.039__European Neuropsychopharmacology. Elsevier, 2019.https://doi.org/10.1016/j.euroneuro.2019.09.039 .

Dotter, Christoph, and Gaia Novarino. “Supplementary Data for the Research Paper ‘Haploinsufficiency of the Intellectual Disability Gene SET Disturbs Developmental Gene Expression and Cognition.’”https://doi.org/10.15479/AT:ISTA:6074__Institute of Science and Technology Austria, 2019.https://doi.org/10.15479/AT:ISTA:6074 .

Novarino, Gaia. “Zika-Associated Microcephaly: Reduce the Stress and Race for the Treatment.”https://doi.org/10.1126/scitranslmed.aar7514__Science Translational Medicine. American Association for the Advancement of Science, 2018.https://doi.org/10.1126/scitranslmed.aar7514 .

Tarlungeanu, Dora-Clara, and Gaia Novarino. “Genomics in Neurodevelopmental Disorders: An Avenue to Personalized Medicine.”https://doi.org/10.1038/s12276-018-0129-7__Experimental &; Molecular Medicine. Springer Nature, 2018.https://doi.org/10.1038/s12276-018-0129-7 .

Sacco, Roberto, Emanuele Cacci, and Gaia Novarino. “Neural Stem Cells in Neuropsychiatric Disorders.”https://doi.org/10.1016/j.conb.2017.12.005__Current Opinion in Neurobiology. Elsevier, 2018.https://doi.org/10.1016/j.conb.2017.12.005 .

Marin Valencia, Isaac, Gaia Novarino, Anide Johansen, Bafak Rosti, Mahmoud Issa, Damir Musaev, Gifty Bhat, et al. “A Homozygous Founder Mutation in TRAPPB Associates with a Neurodevelopmental Disorder Characterised by Microcephaly Epilepsy and Autistic Features.”https://doi.org/10.1136/jmedgenet-2017-104627__Journal of Medical Genetics. BMJ Publishing Group, 2018.https://doi.org/10.1136/jmedgenet-2017-104627 .

Tarlungeanu, Dora-Clara. “The Branched Chain Amino Acids in Autism Spectrum Disorders .”https://doi.org/10.15479/AT:ISTA:th_992__Institute of Science and Technology Austria, 2018.https://doi.org/10.15479/AT:ISTA:th_992 .

Deliu, Elena, Niccoló Arecco, Jasmin Morandell, Christoph Dotter, Ximena Contreras, Charles Girardot, Eva Käsper, et al. “Haploinsufficiency of the Intellectual Disability Gene SET Disturbs Developmental Gene Expression and Cognition.”https://doi.org/10.1038/s41593-018-0266-2__Nature Neuroscience. Nature Publishing Group, 2018.https://doi.org/10.1038/s41593-018-0266-2 .

Khamina, Kseniya, Alexander Lercher, Michael Caldera, Christopher Schliehe, Bojan Vilagos, Mehmet Sahin, Lindsay Kosack, et al. “Characterization of Host Proteins Interacting with the Lymphocytic Choriomeningitis Virus L Protein.”https://doi.org/10.1371/journal.ppat.1006758__PLoS Pathogens. Public Library of Science, 2017.https://doi.org/10.1371/journal.ppat.1006758 .

Hill Yardin, Elisa, Sonja Mckeown, Gaia Novarino, and Andreas Grabrucker. “Extracerebral Dysfunction in Animal Models of Autism Spectrum Disorder.”https://doi.org/10.1007/978-3-319-52498-6_9__In Translational Anatomy and Cell Biology of Autism Spectrum Disorder, edited by Michael Schmeisser and Tobias Boekers, 224:159–87. Advances in Anatomy Embryology and Cell Biology. Springer, 2017.https://doi.org/10.1007/978-3-319-52498-6_9 .

Schroeder, Jan, Elena Deliu, Gaia Novarino, and Michael Schmeisser. “Genetic and Pharmacological Reversibility of Phenotypes in Mouse Models of Autism Spectrum Disorder.”https://doi.org/10.1007/978-3-319-52498-6_10__In Translational Anatomy and Cell Biology of Autism Spectrum Disorder, edited by Michael Schmeisser and Tobias Boekers, 224:189–211. Advances in Anatomy Embryology and Cell Biology. Springer, 2017.https://doi.org/10.1007/978-3-319-52498-6_10 .

Novarino, Gaia. “Modeling Alzheimer’s Disease in Mice with Human Neurons.”https://doi.org/10.1126/scitranslmed.aam9867__Science Translational Medicine. American Association for the Advancement of Science, 2017.https://doi.org/10.1126/scitranslmed.aam9867 .

Novarino, Gaia. “The Antisocial Side of Antibiotics.”https://doi.org/10.1126/scitranslmed.aan2786__Science Translational Medicine. American Association for the Advancement of Science, 2017.https://doi.org/10.1126/scitranslmed.aan2786 .

Novarino, Gaia. “Rett Syndrome Modeling Goes Simian.”https://doi.org/10.1126/scitranslmed.aan8196__Science Translational Medicine. American Association for the Advancement of Science, 2017.https://doi.org/10.1126/scitranslmed.aan8196 .

Novarino, Gaia. “The Riddle of CH Haploinsufficiency in Autism Spectrum Disorder.”https://doi.org/10.1126/scitranslmed.aao0972__Science Translational Medicine. American Association for the Advancement of Science, 2017.https://doi.org/10.1126/scitranslmed.aao0972 .

Andergassen, Daniel, Christoph Dotter, Dyniel Wenzel, Verena Sigl, Philipp Bammer, Markus Muckenhuber, Daniela Mayer, et al. “Mapping the Mouse Allelome Reveals Tissue Specific Regulation of Allelic Expression.”https://doi.org/10.7554/eLife.25125__ELife. eLife Sciences Publications, 2017.https://doi.org/10.7554/eLife.25125 .

Brailoiu, Gabriela, Elena Deliu, Jeffrey Barr, Linda Console Bram, Alexandra Ciuciu, Mary Abood, Ellen Unterwald, and Eugen Breiloiu. “HIV Tat Exciteshttps://doi.org/10.1016/j.drugalcdep.2017.04.015__Receptor-like Expressing Neurons from Rat Nucleus Accumbens.”https://doi.org/10.1016/j.drugalcdep.2017.04.015__Drug and Alcohol Dependence. Elsevier, 2017.https://doi.org/10.1016/j.drugalcdep.2017.04.015 .

Novarino, Gaia. “More Excitation for Rett Syndrome.”https://doi.org/10.1126/scitranslmed.aao4218__Science Translational Medicine. American Association for the Advancement of Science, 2017.https://doi.org/10.1126/scitranslmed.aao4218 .

Novarino, Gaia. “The Science of Love in ASD and ADHD.”https://doi.org/10.1126/scitranslmed.aap8168__Science Translational Medicine. American Association for the Advancement of Science, 2017.https://doi.org/10.1126/scitranslmed.aap8168 .

Sauerzopf, Ulrich, Roberto Sacco, Gaia Novarino, Marco Niello, Ana Weidenauer, Nicole Praschak Rieder, Harald Sitte, and Matthaeus Willeit. “Are Reprogrammed Cells a Useful Tool for Studying Dopamine Dysfunction in Psychotic Disorders? A Review of the Current Evidence.”https://doi.org/10.1111/ejn.13418__European Journal of Neuroscience. Wiley-Blackwell, 2017.https://doi.org/10.1111/ejn.13418 .

Breiloiu, Eugen, Matthew Mcguire, Shadaria Shuler, Elena Deliu, Jeffrey Barr, Mary Abood, and Gabriela Brailoiu. “Modulation of Cardiac Vagal Tone by Bradykinin Acting on Nucleus Ambiguus.”https://doi.org/10.1016/j.neuroscience.2017.09.034__Neuroscience. Elsevier, 2017.https://doi.org/10.1016/j.neuroscience.2017.09.034 .

Kornienko, Aleksandra, Christoph Dotter, Philipp Guenzl, Heinz Gisslinger, Bettina Gisslinger, Ciara Cleary, Robert Kralovics, Florian Pauler, and Denise Barlow. “Long Non-Coding RNAs Display Higher Natural Expression Variation than Protein-Coding Genes in Healthy Humans.”https://doi.org/10.1186/s13059-016-0873-8__Genome Biology. BioMed Central, 2016.https://doi.org/10.1186/s13059-016-0873-8 .

Tarlungeanu, Dora-Clara, Elena Deliu, Christoph Dotter, Majdi Kara, Philipp Janiesch, Mariafrancesca Scalise, Michele Galluccio, et al. “Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.”https://doi.org/10.1016/j.cell.2016.11.013__Cell. Cell Press, 2016.https://doi.org/10.1016/j.cell.2016.11.013 .

Andergassen, Daniel, Christoph Dotter, Tomasz Kulinski, Philipp Guenzl, Philipp Bammer, Denise Barlow, Florian Pauler, and Quanah Hudson. “Allelome.PRO, a Pipeline to Define Allele-Specific Genomic Features from High-Throughput Sequencing Data.”https://doi.org/10.1093/nar/gkv727__Nucleic Acids Research. Oxford University Press, 2015.https://doi.org/10.1093/nar/gkv727 .

Kuechler, Alma, Alexander Zink, Thomas Wieland, Hermann Lüdecke, Kirsten Cremer, Leonardo Salviati, Pamela Magini, et al. “Loss-of-Function Variants of SET Cause Intellectual Disability and the Core Phenotype of Microdeletion 3.3 Syndrome.”https://doi.org/10.1038/ejhg.2014.165__European Journal of Human Genetics. Nature Publishing Group, 2015.https://doi.org/10.1038/ejhg.2014.165 .

Novarino, Gaia, Ali Fenstermaker, Maha Zaki, Matan Hofree, Jennifer Silhavy, Andrew Heiberg, Mostafa Abdellateef, et al. “Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders.”https://doi.org/10.1126/science.1247363__Science. American Association for the Advancement of Science, 2014.https://doi.org/10.1126/science.1247363 .