Mari Rossi

SYT1-associated neurodevelopmental disorder: a case series

Kate Baker, Sarah L. Gordon, Holly Melland et al. · Brain · 2018 · 139 citations · Full text

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

Erica D. Smith, Kelly Radtke, Mari Rossi et al. · Human Mutation · 2017 · 108 citations · Full text

Exome Sequencing, Genetic Epidemiology, Diagnosis +19

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders

Mari Rossi, Dima El‐Khechen, Mary Helen Black et al. · Pediatric Neurology · 2017 · 103 citations · Full text

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Geeske M. van Woerden, Melanie Bos, Charlotte de Konink et al. · Human Mutation · 2021 · 63 citations · Full text

Brain Development, Developmental Cognitive Neuroscience, Neurodevelopment +23

Analysis of X chromosome inactivation in autism spectrum disorders

Xiaohong Gong, Elena Bacchelli, Francesca Blasi et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2008 · 57 citations · Full text

Cytogenetics, Autism Spectrum Disorders, Genetics +16