Dimitri J. Stavropoulos

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 551 citations · Full text

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Kristiina Tammimies, Christian R. Marshall, Susan Walker et al. · JAMA · 2015 · 432 citations

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 374 citations · Full text

SHANK1 Deletions in Males with Autism Spectrum Disorder

Daisuke Sato, Anath C. Lionel, Claire S. Leblond et al. · The American Journal of Human Genetics · 2012 · 320 citations · Full text

Shank1 Deletions, Syndromic Autism, Psychiatry +1