Novarino, Gaia

Top Publications

Top Publications Authored or Co-Authored by "Novarino, Gaia"

• Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

  Science, Volume 343, No. 6170, Year 2014, Citations 476
• Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

  Science, Volume 338, No. 6105, Year 2012, Citations 272
• Exome Sequencing Can Improve Diagnosis and Alter Patient Management

  Science Translational Medicine, Volume 4, No. 138, Article 138ra78, Year 2012, Citations 267
• Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

  Cell, Volume 167, No. 6, Year 2016, Citations 223
• A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

  Journal of Medical Genetics, Volume 55, No. 1, Year 2018, Citations 37