Novarino, Gaia

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

Tărlungeanu, D. C., Deliu, E., Dotter, C. P., Kara, M., Janiesch, P. C., Scalise, M., Galluccio, M., Tesulov, M., Morelli, E., Sonmez, F. M., et al. (2016) · Cell

Amino Acid Enzymes and MetabolismAutism Spectrum Disorder Research

Cited by 367

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Novarino, G., El-Fishawy, P., Kayserili, H., Meguid, N. A., Scott, E. M., Schroth, J., Silhavy, J. L., Kara, M., Khalil, R. O., Ben-Omran, T., et al. (2012) · Science

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 320

CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories

Villa, C. E., Cheroni, C., Dotter, C. P., López-Tóbon, A., Oliveira, B., Sacco, R., Yahya, A. Ç., Morandell, J., Gabriele, M., Tavakoli, M. R., et al. (2022) · Cell Reports

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 92

Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition

Deliu, E., Arecco, N., Morandell, J., Dotter, C. P., Contreras, X., Girardot, C., Käsper, E.-L., Kozlova, A., Kishi, K., Chiaradia, I., et al. (2018) · Nature Neuroscience

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Cited by 89

Large neutral amino acid levels tune perinatal neuronal excitability and survival

Knaus, L. S., Basilico, B., Malzl, D., Gerykova Bujalkova, M., Smogavec, M., Schwarz, L. A., Gorkiewicz, S., Amberg, N., Pauler, F. M., Knittl-Frank, C., et al. (2023) · Cell

Amino Acid Enzymes and MetabolismMetabolomics and Mass Spectrometry Studies

Cited by 70

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., McDonald, K., Baker, J., Bhambhani, V., et al. (2022) · Brain

ATP Synthase and ATPases ResearchGenetics and Neurodevelopmental Disorders

Cited by 34