Disentangling the heterogeneity of autism spectrum disorder through genetic findings

The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

(2013) Nora Urraca et al.   Autism Research

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

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

Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial

(2013) John J Bissler et al.   LANCET

The causes and consequences of genetic heterogeneity in cancer evolution

(2013) Rebecca A. Burrell et al.   NATURE

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

Rare Inherited Variation in Autism: Beginning to See the Forest and a Few Trees

(2013) Jason L. Stein et al.   NEURON

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

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

Understanding sex bias in autism spectrum disorder

(2013) D. M. Werling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Examining and interpreting the female protective effect against autistic behavior

(2013) E. B. Robinson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Targeted treatment trials for tuberous sclerosis and autism: no longer a dream

(2012) Mustafa Sahin   CURRENT OPINION IN NEUROBIOLOGY

Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): The mediating role of cognitive flexibility

(2012) Sophie van Rijn et al.   JOURNAL OF PSYCHIATRIC RESEARCH

Gender Bias, Female Resilience, and the Sex Ratio in Autism

(2012) John N. Constantino et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

How Different Are Girls and Boys Above and Below the Diagnostic Threshold for Autism Spectrum Disorders?

(2012) Katharina Dworzynski et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

(2012) Peter T. Tsai et al.   NATURE

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

A Practice Pathway for the Identification, Evaluation, and Management of Insomnia in Children and Adolescents With Autism Spectrum Disorders

(2012) Beth A. Malow et al.   PEDIATRICS

Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial

(2012) E. M. Berry-Kravis et al.   Science Translational Medicine

What does CNTNAP2 reveal about autism spectrum disorder?

(2012) Olga Peñagarikano et al.   TRENDS IN MOLECULAR MEDICINE

The Genetics of Autism Spectrum Disorders – A Guide for Clinicians

(2012) Karsten M. Heil et al.   Current Psychiatry Reports

Autism genetics: searching for specificity and convergence

(2012) Jamee M Berg et al.   GENOME BIOLOGY

Sex differences in repetitive stereotyped behaviors in autism: Implications for genetic liability

(2011) Peter Szatmari et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

The neurology of autism spectrum disorders

(2011) Shafali S Jeste   CURRENT OPINION IN NEUROLOGY

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex

(2011) Sergiusz Jóźwiak et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A Behavioral Comparison of Male and Female Adults with High Functioning Autism Spectrum Conditions

(2011) Meng-Chuan Lai et al.   PLoS One

Open-label add-on treatment trial of minocycline in fragile X syndrome

(2010) Carlo Paribello et al.   BMC Neurology

Epilepsy and autism spectrum disorders: Are there common developmental mechanisms?

(2010) Amy Brooks-Kayal   BRAIN & DEVELOPMENT

NEUROPSYCHOLOGICAL ASPECTS OF TUBEROUS SCLEROSIS IN RELATION TO EPILEPSY AND MRI FINDINGS

(2010) I. Jambaqué et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Diffusion tensor imaging identifies changes in normal-appearing white matter within the epileptogenic zone in tuberous sclerosis complex

(2010) Elysa Widjaja et al.   EPILEPSY RESEARCH

Tsc2-Rheb signaling regulates EphA-mediated axon guidance

(2010) Duyu Nie et al.   NATURE NEUROSCIENCE

Diffusion Features of White Matter in Tuberous Sclerosis With Tractography

(2010) Michelle L. Krishnan et al.   PEDIATRIC NEUROLOGY

Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2

(2010) A. A. Scott-Van Zeeland et al.   Science Translational Medicine

Impairment in movement skills of children with autistic spectrum disorders

(2009) DIDO GREEN et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome

(2009) E Berry-Kravis et al.   JOURNAL OF MEDICAL GENETICS

The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum Disorders

(2009) Sarah J Spence et al.   PEDIATRIC RESEARCH

Epidemiology of Pervasive Developmental Disorders

(2009) Eric Fombonne   PEDIATRIC RESEARCH

Sex differences in the evaluation and diagnosis of autism spectrum disorders among children

(2009) Ellen Giarelli et al.   Disability and Health Journal

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

(2008) Maricela Alarcón et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism

(2008) Dan E. Arking et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The TSC1–TSC2 complex: a molecular switchboard controlling cell growth

(2008) Jingxiang Huang et al.   BIOCHEMICAL JOURNAL

Tuberous sclerosis complex proteins control axon formation

(2008) Y.-J. Choi et al.   GENES & DEVELOPMENT

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

(2008) G Bradley Schaefer et al.   GENETICS IN MEDICINE

Open-Label Treatment Trial of Lithium to Target the Underlying Defect in Fragile X Syndrome

(2008) Elizabeth Berry-Kravis et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population-based study

(2008) PAULA KRAKOWIAK et al.   JOURNAL OF SLEEP RESEARCH

Tuberous sclerosis

(2008) Paolo Curatolo et al.   LANCET

Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis

(2008) Dan Ehninger et al.   NATURE MEDICINE

Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis

(2008) John J. Bissler et al.   NEW ENGLAND JOURNAL OF MEDICINE

Characterization of Autism in Young Children With Tuberous Sclerosis Complex

(2007) Shafali S. Jeste et al.   JOURNAL OF CHILD NEUROLOGY