Gaia Novarino

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 526 citations · Full text

Neurological Disorder, Genetics, Network Analysis +18

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

Dora C. Tărlungeanu, Elena Deliu, Christoph Dotter et al. · Cell · 2016 · 350 citations · Full text

Neurodevelopmental Disorders, Blood Brain Barrier, Biochemistry +12

Mutations in <i>BCKD-kinase</i> Lead to a Potentially Treatable Form of Autism with Epilepsy

Gaia Novarino, Paul El-Fishawy, Hülya Kayserili et al. · Science · 2012 · 308 citations · Full text

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa et al. · Science Translational Medicine · 2012 · 256 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +18

Endosomal Chloride-Proton Exchange Rather Than Chloride Conductance Is Crucial for Renal Endocytosis

Gaia Novarino, Stefanie Weinert, Gesa Rickheit et al. · Science · 2010 · 175 citations