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

Ryan K. C. Yuen, Daniele Merico, Matt Bookman, +80

Nature Neuroscience

Next-generation SequencingGeneticsPsychiatric GeneticsMolecular BiologyAutism +7

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, +52

Genetics in Medicine

Whole-genome sequencing of quartet families with autism spectrum disorder

Ryan K. C. Yuen, Bhooma Thiruvahindrapuram, Daniele Merico, +25

Nature Medicine

SequencingSyndromic AutismNext-generation SequencingGeneticsMolecular Biology +6

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

Yong‐hui Jiang, Ryan K. C. Yuen, Xin Jin, +36

The American Journal of Human Genetics

Whole-genome SequencingSequencingEngineeringVariant InterpretationMedicine +11

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

Kristiina Tammimies, Christian R. Marshall, Susan Walker, +31

JAMA

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

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling, +59

npj Genomic Medicine

A large data resource of genomic copy number variation across neurodevelopmental disorders

Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan, +57

npj Genomic Medicine

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Gea Beunders, Els Voorhoeve, Christelle Golzio, +60

The American Journal of Human Genetics

Exonic DeletionsDevelopmental BiologyMolecular NeuroscienceMendelian DisorderSyndromic Autism +5

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Lijia Huang, Jodi Warman‐Chardon, Melissa T. Carter, +8

Orphanet Journal of Rare Diseases

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals

Melissa T. Carter, Stephanie A. St. Pierre, Elaine H. Zackai, +2

American Journal of Medical Genetics Part A

GeneticsPhenotypic DelineationPathologyClinical FeaturesMendelian Disorder +15