Anath C. Lionel

Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei et al. · Nature · 2010 · 2K citations · Full text

Autism Spectrum Disorders, Syndromic Autism, Genetics +4

Structural Variation of Chromosomes in Autism Spectrum Disorder

Christian R. Marshall, Abdul Noor, John B. Vincent et al. · The American Journal of Human Genetics · 2008 · 1.8K citations · Full text

Chromatin, Structural Variation, Syndromic Autism +5

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

Paul A. Northcott, David Shih, John Peacock et al. · Nature · 2012 · 910 citations · Full text

Genetics, Genomics, Cancer Biology +23

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

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