| Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ... science 343 (6170), 506-511, 2014 | 559 | 2014 |
| Neurodevelopmental disorders: from genetics to functional pathways I Parenti, LG Rabaneda, H Schoen, G Novarino Trends in Neurosciences 43 (8), 608-621, 2020 | 355 | 2020 |
| Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy G Novarino, P El-Fishawy, H Kayserili, NA Meguid, EM Scott, J Schroth, ... Science 338 (6105), 394-397, 2012 | 323 | 2012 |
| Exome sequencing can improve diagnosis and alter patient management TJ Dixon-Salazar, JL Silhavy, N Udpa, J Schroth, S Bielas, AE Schaffer, ... Science translational medicine 4 (138), 138ra78-138ra78, 2012 | 294 | 2012 |
| Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder DC Tărlungeanu, E Deliu, CP Dotter, M Kara, PC Janiesch, M Scalise, ... Cell 167 (6), 1481-1494. e18, 2016 | 279 | 2016 |
| Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis G Novarino, S Weinert, G Rickheit, TJ Jentsch Science 328 (5984), 1398-1401, 2010 | 186 | 2010 |
| Modeling human disease in humans: the ciliopathies G Novarino, N Akizu, JG Gleeson Cell 147 (1), 70-79, 2011 | 179 | 2011 |
| Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity G Novarino, C Fabrizi, R Tonini, MA Denti, F Malchiodi-Albedi, GM Lauro, ... Journal of Neuroscience 24 (23), 5322-5330, 2004 | 153 | 2004 |
| Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation ST Baek, G Kerjan, SL Bielas, JE Lee, AG Fenstermaker, G Novarino, ... Neuron 82 (6), 1255-1262, 2014 | 110 | 2014 |
| Genomics in neurodevelopmental disorders: an avenue to personalized medicine DC Tărlungeanu, G Novarino Experimental & molecular medicine 50 (8), 1-7, 2018 | 96 | 2018 |
| Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25. 3 syndrome A Kuechler, AM Zink, T Wieland, HJ Lüdecke, K Cremer, L Salviati, ... European Journal of Human Genetics 23 (6), 753-760, 2015 | 94 | 2015 |
| Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition E Deliu, N Arecco, J Morandell, CP Dotter, X Contreras, C Girardot, ... Nature neuroscience 21 (12), 1717-1727, 2018 | 78 | 2018 |
| Substrate binding stoichiometry and kinetics of the norepinephrine transporter JW Schwartz, G Novarino, DW Piston, LJ DeFelice Journal of Biological Chemistry 280 (19), 19177-19184, 2005 | 62 | 2005 |
| Role of CIC-5 in Renal Endocytosis Is Unique among CIC Exchangers and Does Not Require PY-motif-dependent Ubiquitylation G Rickheit, L Wartosch, S Schaffer, SM Stobrawa, G Novarino, S Weinert, ... Journal of biological chemistry 285 (23), 17595-17603, 2010 | 53 | 2010 |
| A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features I Marin-Valencia, G Novarino, A Johansen, B Rosti, MY Issa, D Musaev, ... Journal of medical genetics 55 (1), 48-54, 2018 | 48 | 2018 |
| Neural stem cells in neuropsychiatric disorders R Sacco, E Cacci, G Novarino Current opinion in neurobiology 48, 131-138, 2018 | 43 | 2018 |
| CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories CE Villa, C Cheroni, CP Dotter, A López-Tóbon, B Oliveira, R Sacco, ... Cell Reports 39 (1), 2022 | 37 | 2022 |
| Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration S Weinert, N Gimber, D Deuschel, T Stuhlmann, D Puchkov, Z Farsi, ... The EMBO journal 39 (9), e103358, 2020 | 36 | 2020 |
| Inhibition of ABCB1 and ABCG2 at the Mouse Blood–Brain Barrier with Marketed Drugs To Improve Brain Delivery of the Model ABCB1/ABCG2 Substrate [11C … A Traxl, S Mairinger, T Filip, M Sauberer, J Stanek, S Poschner, W Jäger, ... Molecular Pharmaceutics 16 (3), 1282-1293, 2019 | 25 | 2019 |
| Molecular mechanisms for targeted ASD treatments B Basilico, J Morandell, G Novarino Current opinion in genetics & development 65, 126-137, 2020 | 24 | 2020 |
