RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism

Lenz-Majewski Hyperostotic Dwarfism with Hyperphosphoserinuria from a Novel Mutation inPTDSS1Encoding Phosphatidylserine Synthase 1

(2015) Michael P Whyte et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes

(2015) B Wilkinson et al.   Translational Psychiatry

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

Investigation ofNRXN1deletions: Clinical and molecular characterization

(2013) Mindy Preston Dabell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Global increases in both common and rare copy number load associated with autism

(2013) Santhosh Girirajan et al.   HUMAN MOLECULAR GENETICS

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

(2013) Sérgio B Sousa et al.   NATURE GENETICS

Genome-Wide Diversity in the Levant Reveals Recent Structuring by Culture

(2013) Marc Haber et al.   PLoS Genetics

Formation and function of phosphatidylserine and phosphatidylethanolamine in mammalian cells

(2012) Jean E. Vance et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Role of Leaky Neuronal Ryanodine Receptors in Stress- Induced Cognitive Dysfunction

(2012) Xiaoping Liu et al.   CELL

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Potential opposite roles of the extracellular signal-regulated kinase (ERK) pathway in autism spectrum and bipolar disorders

(2012) Hans O. Kalkman   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

(2011) Hanan Hamamy et al.   GENETICS IN MEDICINE

Autism spectrum disorders—A genetics review

(2011) Judith H Miles   GENETICS IN MEDICINE

Investigation of modifier genes within copy number variations in Rett syndrome

(2011) Rosangela Artuso et al.   JOURNAL OF HUMAN GENETICS

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

(2011) Dan Levy 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

The Distribution and Function of Phosphatidylserine in Cellular Membranes

(2010) Peter A. Leventis et al.   Annual Review of Biophysics

Allowing for sex differences increases power in a GWAS of multiplex Autism families

(2010) A T-H Lu et al.   MOLECULAR PSYCHIATRY

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

(2010) Dalila Pinto et al.   NATURE

Traits Contributing to the Autistic Spectrum

(2010) Colin D. Steer et al.   PLoS One

Geographical Structure of the Y-chromosomal Genetic Landscape of the Levant: A coastal-inland contrast

(2009) Mirvat El-Sibai et al.   ANNALS OF HUMAN GENETICS

Characteristics and Concordance of Autism Spectrum Disorders Among 277 Twin Pairs

(2009) Rebecca E. Rosenberg et al.   ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE

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

The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

(2009) Argelia Medeiros-Domingo et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

(2009) Joseph T. Glessner et al.   NATURE

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

MAP'ing CNS Development and Cognition: An ERKsome Process

(2009) Ivy S. Samuels et al.   NEURON

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

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Purification and characterization of human phosphatidylserine synthases 1 and 2

(2008) Shiho Tomohiro et al.   BIOCHEMICAL JOURNAL

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

(2008) Amber Hogart et al.   NEUROBIOLOGY OF DISEASE

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE