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 · 288 citations · Full text

Neurodevelopmental Disorders, Autism Spectrum Disorders, Syndromic Autism +11

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 · 230 citations

Genetics, Pten Mutation, Confirmation Study +21

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 · 157 citations

Neurodevelopmental Disorders, Developmental Biology, Syndromic Autism +12

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 · 149 citations · Full text

A2g Missense Mutation, Smn Gene Modulates, Neurodegenerative Diseases +13

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 · 124 citations

Mendelian Disorder, Genetic Disorder, Genetics +6