Related references
Note: Only part of the references are listed.De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment
Fadi F. Hamdan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
Carolien G. F. de Kovel et al.
BRAIN (2010)
SFARI Gene: an evolving database for the autism research community
Sharmila Banerjee-Basu et al.
DISEASE MODELS & MECHANISMS (2010)
Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits
Denise Horn et al.
HUMAN MUTATION (2010)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan et al.
NATURE GENETICS (2010)
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
Sabine Endele et al.
NATURE GENETICS (2010)
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Sarah B. Ng et al.
NATURE GENETICS (2010)
A de novo paradigm for mental retardation
Lisenka E. L. M. Vissers et al.
NATURE GENETICS (2010)
mrsFAST: a cache-oblivious algorithm for short-read mapping
Faraz Hach et al.
NATURE METHODS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations
Gregory M. Cooper et al.
NATURE METHODS (2010)
The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors
Gerald D. Fischbach et al.
NEURON (2010)
Rate, molecular spectrum, and consequences of human mutation
Michael Lynch
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Jared C. Roach et al.
SCIENCE (2010)
Diversity of Human Copy Number Variation and Multicopy Genes
Peter H. Sudmant et al.
SCIENCE (2010)
Balancing Selection Maintains a Form of ERAP2 that Undergoes Nonsense-Mediated Decay and Affects Antigen Presentation
Aida M. Andres et al.
PLOS GENETICS (2010)
Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
Andy Itsara et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
George Kirov et al.
HUMAN MOLECULAR GENETICS (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
Standardizing ADOS Scores for a Measure of Severity in Autism Spectrum Disorders
Katherine Gotham et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2009)
Advanced Parental Age and the Risk of Autism Spectrum Disorder
Maureen S. Durkin et al.
AMERICAN JOURNAL OF EPIDEMIOLOGY (2008)
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
Maricela Alarcon et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Structural variation of chromosomes in autism spectrum disorder
Christian R. Marshall et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
Dan E. Arking et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Molecular cytogenetic analysis and resequencing of Contactin Associated Protein-Like 2 in autism spectrum disorders
Betul Bakkaloglu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Autism Genetics: Strategies, Challenges, and Opportunities
Brian J. O'Roak et al.
AUTISM RESEARCH (2008)
Large recurrent microdeletions associated with schizophrenia
Hreinn Stefansson et al.
NATURE (2008)
Advances in autism genetics: on the threshold of a new neurobiology
Brett S. Abrahams et al.
NATURE REVIEWS GENETICS (2008)
A Functional Genetic Link between Distinct Developmental Language Disorders
Sonja C. Vernes et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
The broad autism phenotype questionnaire
Robert S. E. Hurley et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2007)
Strong association of de novo copy number mutations with autism
Jonathan Sebat et al.
SCIENCE (2007)
Genome-wide atlas of gene expression in the adult mouse brain
Ed S. Lein et al.
NATURE (2007)
Functional genetic analysis of mutations implicated in a human speech and language disorder
Sonja C. Vernes et al.
HUMAN MOLECULAR GENETICS (2006)
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
Lars Feuk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH
RR Selzer et al.
GENES CHROMOSOMES & CANCER (2005)
Distribution and intensity of constraint in mammalian genomic sequence
GM Cooper et al.
GENOME RESEARCH (2005)
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits
KD MacDermot et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Intergenerational transmission of subthreshold autistic traits in the general population
JN Constantino et al.
BIOLOGICAL PSYCHIATRY (2005)
Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction
I Teramitsu et al.
JOURNAL OF NEUROSCIENCE (2004)
Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions
SR Li et al.
MOLECULAR AND CELLULAR BIOLOGY (2004)
Sodium channels SCN1A, SCN2A and SCN3A in familial autism
LA Weiss et al.
MOLECULAR PSYCHIATRY (2003)
Recent segmental duplications in the human genome
JA Bailey et al.
SCIENCE (2002)
A forkhead-domain gene is mutated in a severe speech and language disorder
CSL Lai et al.
NATURE (2001)
Segmental duplications: Organization and impact within the current Human Genome Project assembly
JA Bailey et al.
GENOME RESEARCH (2001)
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
L Claes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)