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Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle. Cold Spring Harb Mol Case Stud. 2016 ;2(5):a001057..
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 ;70(12):1491-8..
Phenotypic expansion in - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 ;5(10):1277-1285..