Cheryl Cytrynbaum

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

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Ryan K. C. Yuen, Daniele Merico, Matt Bookman et al. · Nature Neuroscience · 2017 · 910 citations · Full text

Next-generation Sequencing, Genetics, Psychiatric Genetics +9

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 737 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

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

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