Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

Neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and brain size in Xenopus embryos

(2020) Helen Rankin Willsey et al.   DEVELOPMENT

Centrosome anchoring regulates progenitor properties and cortical formation

(2020) Wei Shao et al.   NATURE

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

(2020) Tianyun Wang et al.   Nature Communications

Xenopus leads the way: Frogs as a pioneering model to understand the human brain

(2020) Cameron R. T. Exner et al.   GENESIS

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

(2019) Heba Yasin et al.   JOURNAL OF HUMAN GENETICS

Advancing genetic and genomic technologies deepen the pool for discovery in Xenopus tropicalis

(2019) Anneke Kakebeen et al.   DEVELOPMENTAL DYNAMICS

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

(2019) Alexandria T. M. Blackburn et al.   GENETICS IN MEDICINE

Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks

(2019) Elizabeth K. Ruzzo et al.   CELL

The Role of the Microtubule Cytoskeleton in Neurodevelopmental Disorders

(2018) Micaela Lasser et al.   Frontiers in Cellular Neuroscience

Systematic Evaluation of Molecular Networks for Discovery of Disease Genes

(2018) Justin K. Huang et al.   Cell Systems

The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders

(2018) A. Jeremy Willsey et al.   CELL

Katanin-like protein Katnal2 is required for ciliogenesis and brain development in Xenopus embryos

(2018) Helen Rankin Willsey et al.   DEVELOPMENTAL BIOLOGY

Heavy-tailed prior distributions for sequence count data: removing the noise and preserving large differences

(2018) Anqi Zhu et al.   BIOINFORMATICS

Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder

(2018) Nenad Sestan et al.   NEURON

Tissue-Specific Gene Inactivation inXenopus laevis: Knockout oflhx1in the Kidney with CRISPR/Cas9

(2017) Bridget D. DeLay et al.   GENETICS

Combined small-molecule inhibition accelerates the derivation of functional cortical neurons from human pluripotent stem cells

(2017) Yuchen Qi et al.   NATURE BIOTECHNOLOGY

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

The Subventricular Zone: A Key Player in Human Neocortical Development

(2017) J. Alberto Ortega et al.   NEUROSCIENTIST

Tracking of Indels by DEcomposition is a Simple and Effective Method to Assess Efficiency of Guide RNAs in Zebrafish

(2017) Christelle Etard et al.   Zebrafish

Tissue-Specific Gene Inactivation inXenopus laevis: Knockout oflhx1in the Kidney with CRISPR/Cas9

(2017) Bridget D. DeLay et al.   GENETICS

CRISPR Interference Efficiently Induces Specific and Reversible Gene Silencing in Human iPSCs

(2016) Mohammad A. Mandegar et al.   Cell Stem Cell

CHD8 haploinsufficiency results in autistic-like phenotypes in mice

(2016) Yuta Katayama et al.   NATURE

Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling

(2016) Omer Durak et al.   NATURE NEUROSCIENCE

Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2

(2016) Ellen J. Hoffman et al.   NEURON

Neocortical neurogenesis and the etiology of autism spectrum disorder

(2016) Alan Packer   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Xenopus: leaping forward in kidney organogenesis

(2016) Vanja Krneta-Stankic et al.   PEDIATRIC NEPHROLOGY

Xenopus as a model organism for birth defects—Congenital heart disease and heterotaxy

(2016) Anna R. Duncan et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Compact and highly active next-generation libraries for CRISPR-mediated gene repression and activation

(2016) Max A Horlbeck et al.   eLife

Molecular genetics of human primary microcephaly: an overview

(2015) Muhammad Faheem et al.   BMC Medical Genomics

Autism spectrum disorders: from genes to neurobiology

(2015) A Jeremy Willsey et al.   CURRENT OPINION IN NEUROBIOLOGY

CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus

(2015) Dipankan Bhattacharya et al.   DEVELOPMENTAL BIOLOGY

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

(2015) Jianling Ji et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

(2015) B W M van Bon et al.   MOLECULAR PSYCHIATRY

CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo

(2015) Miguel A Moreno-Mateos et al.   NATURE METHODS

Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture

(2015) Anca M Paşca et al.   NATURE METHODS

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

CHD2 is Required for Embryonic Neurogenesis in the Developing Cerebral Cortex

(2015) Tianjin Shen et al.   STEM CELLS

A panel of induced pluripotent stem cells from chimpanzees: a resource for comparative functional genomics

(2015) Irene Gallego Romero et al.   eLife

Identification of Human Neuronal Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders

(2015) Jingjing Li et al.   Cell Systems

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

The developmental transcriptome of the human brain

(2014) Andrew T.N. Tebbenkamp et al.   CURRENT OPINION IN NEUROLOGY

Cell Type-Specific Expression Analysis to Identify Putative Cellular Mechanisms for Neurogenetic Disorders

(2014) X. Xu et al.   JOURNAL OF NEUROSCIENCE

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Genotype to phenotype relationships in autism spectrum disorders

(2014) Jonathan Chang et al.   NATURE NEUROSCIENCE

Easy quantitative assessment of genome editing by sequence trace decomposition

(2014) Eva K. Brinkman et al.   NUCLEIC ACIDS RESEARCH

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

(2013) A. Jeremy Willsey et al.   CELL

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

Dynamic Imaging of Genomic Loci in Living Human Cells by an Optimized CRISPR/Cas System

(2013) Baohui Chen et al.   CELL

Reagents for developmental regulation of Hedgehog signaling

(2013) Cristy Lewis et al.   METHODS

Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation

(2013) Yoshihisa Matsumoto et al.   Orphanet Journal of Rare Diseases

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Development of xenopus resource centers: The national xenopus resource and the european xenopus resource center

(2012) Esther J. Pearl et al.   GENESIS

Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism

(2012) E Ben-David et al.   MOLECULAR PSYCHIATRY

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

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

The Emerging Biology of Autism Spectrum Disorders

(2012) M. W. State et al.   SCIENCE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

The conundrums of understanding genetic risks for autism spectrum disorders

(2011) Matthew W State et al.   NATURE NEUROSCIENCE

Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders

(2011) Y. Sakai et al.   Science Translational Medicine

Development of a novel selective inhibitor of the Down syndrome-related kinase Dyrk1A

(2010) Yasushi Ogawa et al.   Nature Communications

Comparative expression analysis of the neurogenins in Xenopus tropicalis and Xenopus laevis

(2009) Frank Nieber et al.   DEVELOPMENTAL DYNAMICS

Harmine specifically inhibits protein kinase DYRK1A and interferes with neurite formation

(2009) Nora Göckler et al.   FEBS Journal

PANTHER version 7: improved phylogenetic trees, orthologs and collaboration with the Gene Ontology Consortium

(2009) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

Hedgehog signaling is involved in development of the neocortex

(2008) M. Komada et al.   DEVELOPMENT

Transcriptional Analysis of Estrogen Effects in Human Embryonic Neurons and Glial Cells

(2008) Linda Csöregh et al.   NEUROENDOCRINOLOGY