Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

PTEN signaling in autism spectrum disorders

(2012) Jing Zhou et al.   CURRENT OPINION IN NEUROBIOLOGY

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Down's-syndrome-related kinase Dyrk1A modulates the p120-catenin-Kaiso trajectory of the Wnt signaling pathway

(2012) J. Y. Hong et al.   JOURNAL OF CELL SCIENCE

Pten Deletion in Adult Hippocampal Neural Stem/Progenitor Cells Causes Cellular Abnormalities and Alters Neurogenesis

(2012) A. Amiri et al.   JOURNAL OF NEUROSCIENCE

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

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

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

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

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

DYRK1A: A master regulatory protein controlling brain growth

(2012) Fayçal Guedj et al.   NEUROBIOLOGY OF DISEASE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Network-Assisted Investigation of Combined Causal Signals from Genome-Wide Association Studies in Schizophrenia

(2012) Peilin Jia et al.   PLoS Computational Biology

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

(2011) C Halgren et al.   CLINICAL GENETICS

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

(2011) BWM van Bon et al.   CLINICAL GENETICS

A member of the ETS family, EHF, and the ATPase RUVBL1 inhibit p53-mediated apoptosis

(2011) Kenzui Taniue et al.   EMBO REPORTS

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

(2011) Alex S Nord et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Histone H1 Recruitment by CHD8 Is Essential for Suppression of the Wnt- -Catenin Signaling Pathway

(2011) M. Nishiyama et al.   MOLECULAR AND CELLULAR BIOLOGY

Reversible SUMOylation of TBL1-TBLR1 Regulates β-Catenin-Mediated Wnt Signaling

(2011) Hyo-Kyoung Choi et al.   MOLECULAR CELL

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

(2011) Xiaomu Wei et al.   NATURE GENETICS

Recessive LAMC3 mutations cause malformations of occipital cortical development

(2011) Tanyeri Barak et al.   NATURE GENETICS

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy

(2011) Barbara Borroni et al.   NEUROLOGICAL SCIENCES

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

A Genomewide Linkage Scan of Cocaine Dependence and Major Depressive Episode in Two Populations

(2011) Bao-Zhu Yang et al.   NEUROPSYCHOPHARMACOLOGY

SMART 7: recent updates to the protein domain annotation resource

(2011) I. Letunic et al.   NUCLEIC ACIDS RESEARCH

A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing

(2011) Rachel A. Myers et al.   PLoS Genetics

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

(2011) J Tarabeux et al.   Translational Psychiatry

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

(2010) Stephen R. Williams et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

(2010) Philip Awadalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

(2010) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12

(2010) Nathalie Van der Aa et al.   European Journal of Medical Genetics

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

(2010) T. Batsukh et al.   HUMAN MOLECULAR GENETICS

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

(2010) Denise Horn et al.   HUMAN MUTATION

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia

(2010) M. J. Wat et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex

(2010) F. Bedogni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evidence for association of two variants of the nociceptin/orphanin FQ receptor gene OPRL1 with vulnerability to develop opiate addiction in Caucasians

(2010) Judith A. Briant et al.   PSYCHIATRIC GENETICS

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome

(2009) Bärbel Felder et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DOG 1.0: illustrator of protein domain structures

(2009) Jian Ren et al.   CELL RESEARCH

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment and seizures

(2009) Stephen R Williams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The COP9 Signalosome Mediates β-Catenin Degradation by Deneddylation and Blocks Adenomatous Polyposis coli Destruction via USP15

(2009) Xiaohua Huang et al.   JOURNAL OF MOLECULAR BIOLOGY

Variation in the Ratio of Nucleotide Substitution and Indel Rates across Genomes in Mammals and Bacteria

(2009) J.-Q. Chen et al.   MOLECULAR BIOLOGY AND EVOLUTION

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

(2009) Joseph T. Glessner et al.   NATURE

Targeted bisulfite sequencing reveals changes in DNA methylation associated with nuclear reprogramming

(2009) Jie Deng et al.   NATURE BIOTECHNOLOGY

KRAB-type zinc-finger protein Apak specifically regulates p53-dependent apoptosis

(2009) Chunyan Tian et al.   NATURE CELL BIOLOGY

CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis

(2009) Masaaki Nishiyama et al.   NATURE CELL BIOLOGY

Massively parallel exon capture and library-free resequencing across 16 genomes

(2009) Emily H Turner et al.   NATURE METHODS

Power of deep, all-exon resequencing for discovery of human trait genes

(2009) G. V. Kryukov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

(2008) Rikke S. Møller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

(2008) Karen Buysse et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic disorders associated with macrocephaly

(2008) Charles A. Williams et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

p53 Target Genes Sestrin1 and Sestrin2 Connect Genotoxic Stress and mTOR Signaling

(2008) Andrei V. Budanov et al.   CELL

Histone methyltransferase protein SETD2 interacts with p53 and selectively regulates its downstream genes

(2008) Ping Xie et al.   CELLULAR SIGNALLING

CHD8 Is an ATP-Dependent Chromatin Remodeling Factor That Regulates  -Catenin Target Genes

(2008) B. A. Thompson et al.   MOLECULAR AND CELLULAR BIOLOGY

TBL1–TBLR1 and β-catenin recruit each other to Wnt target-gene promoter for transcription activation and oncogenesis

(2008) Jiong Li et al.   NATURE CELL BIOLOGY

A comprehensive assay for targeted multiplex amplification of human DNA sequences

(2008) S. Krishnakumar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA