Matthew Pastore

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

Matthew Pastore, Thomas W. Prior, Gail E. Herman et al. · Genetics in Medicine · 2009 · 298 citations · Full text

Medicine, Genetics, Pediatrics +16

Confirmation study of <i>PTEN</i> mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

Kim L. McBride, Matthew Pastore, Thomas W. Prior et al. · Autism Research · 2010 · 234 citations

Medicine, Genetics, Molecular Genetics +14

Increasing knowledge of <i>PTEN</i> germline mutations: Two additional patients with autism and macrocephaly

Gail E. Herman, Eric Butter, Benedicta G. Enrile et al. · American Journal of Medical Genetics Part A · 2007 · 158 citations

Medicine, Genetics, Molecular Genetics +16

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy

Umrao R. Monani, Matthew Pastore, Tatiana Gavrilina et al. · The Journal of Cell Biology · 2003 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht et al. · Human Genetics · 2014 · 128 citations

Life Sciences, Genetics, Molecular Genetics +14