Dimitri J. Stavropoulos
University of Toronto(CA)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Congenital heart defects research, Prenatal Screening and Diagnostics
Most-Cited Works
- → Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies(2010)2,854 cited
- → Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test(2017)558 cited
- → Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder(2015)435 cited
- → Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine(2016)375 cited
- → SHANK1 Deletions in Males with Autism Spectrum Disorder(2012)322 cited
- → PhenoTips: Patient Phenotyping Software for Clinical and Research Use(2013)254 cited
- → Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder(2011)214 cited
- → NSD1 mutations generate a genome-wide DNA methylation signature(2015)208 cited
- → A large data resource of genomic copy number variation across neurodevelopmental disorders(2019)198 cited
- → Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature(2014)189 cited