Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

(2015) Francesca Mari et al.   BRAIN & DEVELOPMENT

Allostery without a conformational change? Revisiting the paradigm

(2015) Ruth Nussinov et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Next-generation sequencing in X-linked intellectual disability

(2015) Andreas Tzschach et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Risk of Cancer in Children, Adolescents, and Young Adults with Autistic Disorder

(2015) Huey-Ling Chiang et al.   JOURNAL OF PEDIATRICS

GE-02 * PARADOXICAL GENETIC AND EPIDEMIOLOGIC RELATIONSHIPS BETWEEN CANCER AND AUTISM

(2015) R. Singh et al.   NEURO-ONCOLOGY

Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations

(2015) Scott K. Sherman et al.   Cancer Genetics

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

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

A new intellectual disability syndrome caused byCTNNB1haploinsufficiency

(2014) Estelle Dubruc et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgene

(2014) Francisco Martínez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic disorders associated with postnatal microcephaly

(2014) Laurie E. Seltzer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Females with de novo aberrations inPHF6: Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome

(2014) Christiane Zweier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing

(2014) Tomoki Kosho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder

(2014) Nelle Lambert et al.   Autism Research

Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders

(2014) N. Okamoto et al.   CLINICAL GENETICS

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene

(2014) G. Negri et al.   CLINICAL GENETICS

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

(2014) Alma Kuechler et al.   HUMAN GENETICS

Adenomatous polyposis coli protein deletion leads to cognitive and autism-like disabilities

(2014) J L Mohn et al.   MOLECULAR PSYCHIATRY

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

(2014) M. E. M. Pierpont et al.   PEDIATRICS

Shorter telomere length in peripheral blood leukocytes is associated with childhood autism

(2014) Zongchang Li et al.   Scientific Reports

MLL2 and KDM6A mutations in patients with Kabuki syndrome

(2013) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MED12related disorders

(2013) John M. Graham et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exome sequencing identifies a novelEP300frame shift mutation in a patient with features that overlap cornelia de lange syndrome

(2013) Susan A. Woods et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

When Overgrowth Bumps Into Cancer: The PTEN-Opathies

(2013) JESSICA MESTER et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

(2013) Darcy A. Krueger et al.   ANNALS OF NEUROLOGY

Single Copies of Mutant KRAS and Mutant PIK3CA Cooperate in Immortalized Human Epithelial Cells to Induce Tumor Formation

(2013) G. M. Wang et al.   CANCER RESEARCH

Cancer and Copy Number Variants in an Autism Diagnostic Clinic

(2013) William T. Gannon et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Autism traits in the RASopathies

(2013) Brigid Adviento et al.   JOURNAL OF MEDICAL GENETICS

Focal brain inflammation and autism

(2013) Theoharis C Theoharides et al.   Journal of Neuroinflammation

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Focal malformations of cortical development: New vistas for molecular pathogenesis

(2013) K.-C. Lim et al.   NEUROSCIENCE

Cancer Genome Landscapes

(2013) B. Vogelstein et al.   SCIENCE

ZNF365 Promotes Stability of Fragile Sites and Telomeres

(2013) Y. Zhang et al.   Cancer Discovery

Mammalian Target of Rapamycin (mTOR) Pathways in Neurological Diseases

(2013) Michael Wong   Biomedical Journal

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

(2012) Jamie K. Teer et al.   BIOINFORMATICS

Detection and Therapeutic Implications of c-Met Mutations in Small Cell Lung Cancer and Neuroendocrine Tumors

(2012) J. Voortman et al.   CURRENT PHARMACEUTICAL DESIGN

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome

(2012) Tiziana Squillaro et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2012) Benjamin M. Neale et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

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

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

Autism and cancer risk

(2011) B. Crespi   Autism Research

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Monoallelic Expression Determines Oncogenic Progression and Outcome in Benign and Malignant Brain Tumors

(2011) E. J. Walker et al.   CANCER RESEARCH

Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex

(2011) Peter Tsai et al.   CURRENT OPINION IN NEUROLOGY

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes

(2011) Isabel Rodríguez-Escudero et al.   HUMAN MOLECULAR GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex

(2011) A. L. Numis et al.   NEUROLOGY

Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease

(2011) Rabindranath De La Fuente et al.   REPRODUCTION

The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes

(2010) Jerzy Wegiel et al.   ACTA NEUROPATHOLOGICA

MET Receptor Sequence Variants R970C and T992I Lack Transforming Capacity

(2010) J. W. Tyner et al.   CANCER RESEARCH

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies and cardiac laterality defects

(2009) Emma Hilton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Autism in children and adolescents with cancer

(2009) Julie Blatt et al.   PEDIATRIC BLOOD & CANCER

Distinct Genetic Risk Based on Association of MET in Families With Co-occurring Autism and Gastrointestinal Conditions

(2009) D. B. Campbell et al.   PEDIATRICS