Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

A Single-Cell Transcriptome Atlas of the Aging Drosophila Brain

(2018) Kristofer Davie et al.   CELL

Neurexins and neuropsychiatric disorders

(2018) Enas Kasem et al.   NEUROSCIENCE RESEARCH

Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca 2+ /CaM Controls DCV Binding and Liprin-α/TANC2 Recruits DCVs to Postsynaptic Sites

(2018) Riccardo Stucchi et al.   Cell Reports

A gene-specific T2A-GAL4 library for Drosophila

(2018) Pei-Tseng Lee et al.   eLife

IRF2BPL Is Associated with Neurological Phenotypes

(2018) Paul C. Marcogliese et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

(2018) Bradley P. Coe et al.   NATURE GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex

(2017) Tomasz J. Nowakowski et al.   SCIENCE

Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family

(2017) Alessandra Gasparini et al.   Scientific Reports

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

(2016) Slavé Petrovski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

Mice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects

(2016) Yang Zhou et al.   NEURON

Purification and Characterization of Progenitor and Mature Human Astrocytes Reveals Transcriptional and Functional Differences with Mouse

(2016) Ye Zhang et al.   NEURON

denovo-db: a compendium of humande novovariants

(2016) Tychele N. Turner et al.   NUCLEIC ACIDS RESEARCH

De novo genic mutations among a Chinese autism spectrum disorder cohort

(2016) Tianyun Wang et al.   Nature Communications

Dbo/Henji Modulates Synaptic dPAK to Gate Glutamate Receptor Abundance and Postsynaptic Response

(2016) Manyu Wang et al.   PLoS Genetics

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Gene-specific cell labeling using MiMIC transposons

(2015) Joshua P. Gnerer et al.   NUCLEIC ACIDS RESEARCH

Plug-and-Play Genetic Access to Drosophila Cell Types using Exchangeable Exon Cassettes

(2015) Fengqiu Diao et al.   Cell Reports

A genetic toolkit for tagging intronic MiMIC containing genes

(2015) Sonal Nagarkar-Jaiswal et al.   eLife

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism

(2014) Sebastien M. Weyn-Vanhentenryck et al.   Cell Reports

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

JAABA: interactive machine learning for automatic annotation of animal behavior

(2012) Mayank Kabra et al.   NATURE METHODS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

An integrative approach to ortholog prediction for disease-focused and other functional studies

(2011) Yanhui Hu et al.   BMC BIOINFORMATICS

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

The Deciphering Developmental Disorders (DDD) study

(2011) HELEN V FIRTH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Neuroligin 2 Is Required for Synapse Development and Function at the Drosophila Neuromuscular Junction

(2011) M. Sun et al.   JOURNAL OF NEUROSCIENCE

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

(2010) A. McKenna et al.   GENOME RESEARCH

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Regulation of Dendritic Spines, Spatial Memory, and Embryonic Development by the TANC Family of PSD-95-Interacting Proteins

(2010) S. Han et al.   JOURNAL OF NEUROSCIENCE

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

(2010) Gerald D. Fischbach et al.   NEURON

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

A New Chamber for Studying the Behavior of Drosophila

(2010) Jasper C. Simon et al.   PLoS One

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Versatile P[acman] BAC libraries for transgenesis studies in Drosophila melanogaster

(2009) Koen J T Venken et al.   NATURE METHODS

G-TRACE: rapid Gal4-based cell lineage analysis in Drosophila

(2009) Cory J Evans et al.   NATURE METHODS

Nervous Wreck Interacts with Thickveins and the Endocytic Machinery to Attenuate Retrograde BMP Signaling during Synaptic Growth

(2008) Kate M. O'Connor-Giles et al.   NEURON