The Genetics of Autism Spectrum Disorders – A Guide for Clinicians

Duplication of GTF2I Results in Separation Anxiety in Mice and Humans

(2012) Carolyn B. Mervis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

(2012) Christian P Schaaf et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome and whole-genome sequencing for gene discovery: The future is now!

(2012) Jacek Majewski et al.   HUMAN MUTATION

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

(2012) Gholson J Lyon et al.   Genome Medicine

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

(2011) Andrea K. Vaags et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy Number and SNP Arrays in Clinical Diagnostics

(2011) Christian P. Schaaf et al.   Annual Review of Genomics and Human Genetics

Autism spectrum disorders—A genetics review

(2011) Judith H Miles   GENETICS IN MEDICINE

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

(2011) Julie Gauthier et al.   HUMAN GENETICS

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

(2011) C. P. Schaaf et al.   HUMAN MOLECULAR GENETICS

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

(2011) Anne S. Bassett et al.   JOURNAL OF PEDIATRICS

Identification of incestuous parental relationships by SNP-based DNA microarrays

(2011) CP Schaaf et al.   LANCET

Autism: The importance of getting the dose right

(2011) Leonie Welberg   NATURE REVIEWS NEUROSCIENCE

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

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

Successes of Genome-wide Association Studies

(2010) Robert J. Klein et al.   CELL

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

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

(2010) Dalila Pinto et al.   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

(2009) Jonathan Sebat et al.   TRENDS IN GENETICS

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

(2009) Maja Bucan et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS