Matthew Pastore
Nationwide Children's Hospital(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Neurogenetic and Muscular Disorders Research, Neonatal Respiratory Health Research
Most-Cited Works
- → The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly(2009)297 cited
- → Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly(2010)234 cited
- → Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly(2007)158 cited
- → A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy(2003)150 cited
- → De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum(2014)125 cited
- → Genetic testing in autism: how much is enough?(2007)111 cited
- → Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome(2014)106 cited
- → Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially(2017)89 cited
- → Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A(2011)67 cited
- → Lessons learned from 40 novel PIGA patients and a review of the literature(2020)55 cited