Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

Autism spectrum disorder

(2018) Catherine Lord et al.   LANCET

Pathways from autism spectrum disorder diagnosis to genetic testing

(2017) Krysta S Barton et al.   GENETICS IN MEDICINE

Autism genetics: opportunities and challenges for clinical translation

(2017) Jacob A. S. Vorstman et al.   NATURE REVIEWS GENETICS

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

(2016) Francisco Martínez et al.   JOURNAL OF MEDICAL GENETICS

Autism genetics - an overview

(2016) Jiani Yin et al.   PRENATAL DIAGNOSIS

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

(2015) C. Leroy et al.   CLINICAL GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

(2015) Detelina Grozeva et al.   HUMAN MUTATION

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

(2015) Anna Morgan et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

(2015) Alice Poisson et al.   Orphanet Journal of Rare Diseases

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

(2014) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

Autism

(2013) Meng-Chuan Lai et al.   LANCET

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

(2009) Nathalie Boddaert et al.   PLoS One