Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients

A prospective study of fetal head growth, autistic traits and autism spectrum disorder

(2018) Laura M. E. Blanken et al.   Autism Research

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders

(2018) Marina Viñas-Jornet et al.   BEHAVIOR GENETICS

Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability

(2018) Valentina Peycheva et al.   GENE

Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders

(2018) Mingyu Xu et al.   Neuroscience Bulletin

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature

(2018) Haiyu Li et al.   Molecular Cytogenetics

Genetic profile and clinical application of chromosomal microarray in children with intellectual disability in Hong Kong

(2018) Purdy YT Chan et al.   HONG KONG MEDICAL JOURNAL

A review of psychiatric conceptions of mental and behavioural disorders in Prader-Willi syndrome

(2018) Joyce Whittington et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Copy number variation analysis of patients with intellectual disability from North-West Spain

(2017) Inés Quintela et al.   GENE

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

Genomic Disorders in Psychiatry—What Does the Clinician Need to Know?

(2017) Chelsea Lowther et al.   Current Psychiatry Reports

The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability

(2017) Ricardo Harripaul et al.   Cold Spring Harbor Perspectives in Medicine

Current knowledge on the genetics of autism and propositions for future research

(2016) Thomas Bourgeron   COMPTES RENDUS BIOLOGIES

Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders

(2016) Kate Wolfe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Advancing the understanding of autism disease mechanisms through genetics

(2016) Luis de la Torre-Ubieta et al.   NATURE MEDICINE

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

(2016) Arjun Krishnan et al.   NATURE NEUROSCIENCE

Pleiotropic Mechanisms Indicated for Sex Differences in Autism

(2016) Ileena Mitra et al.   PLoS Genetics

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

(2016) Karen S. Ho et al.   Biomed Research International

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

(2016) Andrea J. Gonzalez-Mantilla et al.   JAMA Psychiatry

Autism spectrum disorder and epilepsy: Disorders with a shared biology

(2015) Bo Hoon Lee et al.   EPILEPSY & BEHAVIOR

Sex/Gender Differences and Autism: Setting the Scene for Future Research

(2015) Meng-Chuan Lai et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy number variation plays an important role in clinical epilepsy

(2014) Heather Olson et al.   ANNALS OF NEUROLOGY

The phenotypic manifestations of rare genic CNVs in autism spectrum disorder

(2014) A K Merikangas et al.   MOLECULAR PSYCHIATRY

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

(2014) Gerald Egger et al.   NEUROGENETICS

Inverse and Direct Cancer Comorbidity in People with Central Nervous System Disorders: A Meta-Analysis of Cancer Incidence in 577,013 Participants of 50 Observational Studies

(2014) Ferrán Catalá-López et al.   PSYCHOTHERAPY AND PSYCHOSOMATICS

Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism

(2013) Steven Klein et al.   Autism Research

Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia

(2013) Jennifer Gladys Mulle et al.   BIOLOGICAL PSYCHIATRY

Pathogenic or not? Assessing the clinical relevance of copy number variants

(2013) JY Hehir-Kwa et al.   CLINICAL GENETICS

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

(2013) Agatino Battaglia et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

(2013) G. Bradley Schaefer et al.   GENETICS IN MEDICINE

Clinical Characteristics of Children with Autism Spectrum Disorder and Co-Occurring Epilepsy

(2013) Emma W. Viscidi et al.   PLoS One

Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

(2013) Claire Amiet et al.   Molecular Autism

Epilepsy and autism: Is there a special relationship?

(2012) Anne T. Berg et al.   EPILEPSY & BEHAVIOR

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

Autism, Alzheimer disease, and fragile X: APP, FMRP, and mGluR5 are molecular links

(2011) D. K. Sokol et al.   NEUROLOGY

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies

(2010) C M Hultman et al.   MOLECULAR PSYCHIATRY

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

(2009) Laura Bernardini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenomic determinants of genomic variation in autism spectrum disorders

(2009) Y Qiao et al.   JOURNAL OF MEDICAL GENETICS