A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine · 2019 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Purα Is Essential for Postnatal Brain Development and Developmentally Coupled Cellular Proliferation As Revealed by Genetic Inactivation in the Mouse

Kamel Khalili, Luis Del Valle, Vandhana Muralidharan-Chari et al. · Molecular and Cellular Biology · 2003 · 193 citations · Full text

Life Sciences, Developmental Biology, Neuroscience +9

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Seema R. Lalani, Jing Zhang, Christian P. Schaaf et al. · The American Journal of Human Genetics · 2014 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Whole exome sequencing in family trios reveals <i>de novo</i> mutations in <i>PURA</i> as a cause of severe neurodevelopmental delay and learning disability

David Hunt, Richard J. Leventer, Cas Simons et al. · Journal of Medical Genetics · 2014 · 106 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Lack of Pur-alpha alters postnatal brain development and causes megalencephaly

Suvi R. K. Hokkanen, Horst-J�rgen Feldmann, Huiping Ding et al. · Human Molecular Genetics · 2011 · 78 citations

Life Sciences, Neurobiology, Neuroscience +17