Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

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

Novel splice-site and missense mutations in theALDH1A3gene underlying autosomal recessive anophthalmia/microphthalmia

(2014) C Nur Semerci et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Regeneration of the aged thymus by a single transcription factor

(2014) N. Bredenkamp et al.   DEVELOPMENT

The Familial Risk of Autism

(2014) Sven Sandin et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Retinoic acid modulates intrahippocampal levels of corticosterone in middle-aged mice: consequences on hippocampal plasticity and contextual memory

(2014) Damien Bonhomme et al.   Frontiers in Aging Neuroscience

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

(2013) Lucas Fares-Taie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of deleterious synonymous variants in human genomes

(2013) Orion J. Buske et al.   BIOINFORMATICS

Mutations inALDH1A3cause microphthalmia

(2013) M A Aldahmesh et al.   CLINICAL GENETICS

A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred

(2013) Adi Mory et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

(2013) Mani Yahyavi et al.   HUMAN MOLECULAR GENETICS

Retinoic Acid Induces Blood-Brain Barrier Development

(2013) M. R. Mizee et al.   JOURNAL OF NEUROSCIENCE

Modeling of the hypothalamic-pituitary-adrenal axis-mediated interaction between the serotonin regulation pathway and the stress response using a Boolean approximation: a novel study of depression

(2013) Oscar Moreno-Ramos et al.   Theoretical Biology and Medical Modelling

Genome-wide identification of transcriptional targets of RORA reveals direct regulation of multiple genes associated with autism spectrum disorder

(2013) Tewarit Sarachana et al.   Molecular Autism

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

Retinoic acid signalling during development

(2012) M. Rhinn et al.   DEVELOPMENT

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

(2012) Pablo Cingolani et al.   FLY

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

The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders

(2012) Joseph D. Buxbaum et al.   NEURON

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

The role of immune dysfunction in the pathophysiology of autism

(2011) Charity Onore et al.   BRAIN BEHAVIOR AND IMMUNITY

Negative affectivity moderated by BDNF and stress response

(2011) C.S. Perea et al.   JOURNAL OF AFFECTIVE DISORDERS

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

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

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

(2011) Mark A DePristo et al.   NATURE GENETICS

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

Prevalence of autism spectrum disorders and influence of country of measurement and ethnicity

(2011) Charles M. Zaroff et al.   SOCIAL PSYCHIATRY AND PSYCHIATRIC EPIDEMIOLOGY

Retinoic Acid Functions as a Key GABAergic Differentiation Signal in the Basal Ganglia

(2011) Christina Chatzi et al.   PLOS BIOLOGY

Foxn1 Regulates Lineage Progression in Cortical and Medullary Thymic Epithelial Cells But Is Dispensable for Medullary Sublineage Divergence

(2011) Craig S. Nowell et al.   PLoS Genetics

Ligand-dependent dynamics of retinoic acid receptor binding during early neurogenesis

(2011) Shaun Mahony et al.   GENOME BIOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation

(2010) Stefania Amorosi et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A double hit implicates DIAPH3 as an autism risk gene

(2010) J A S Vorstman et al.   MOLECULAR PSYCHIATRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Retinoic Acid from the Meninges Regulates Cortical Neuron Generation

(2009) Julie A. Siegenthaler et al.   CELL

FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus

(2009) S Amorosi et al.   CLINICAL GENETICS

Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction

(2009) Neena B. Haider et al.   EXPERIMENTAL EYE RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Foxn1 is required to maintain the postnatal thymic microenvironment in a dosage-sensitive manner

(2008) L. Chen et al.   BLOOD

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

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

Coordinated Actions of the Forkhead Protein Foxp1 and Hox Proteins in the Columnar Organization of Spinal Motor Neurons

(2008) David L. Rousso et al.   NEURON