De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

The molecular biology of FMRP: new insights into fragile X syndrome

(2021) Joel D. Richter et al.   NATURE REVIEWS NEUROSCIENCE

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

(2020) F. Kyle Satterstrom et al.   CELL

UBAP2L Forms Distinct Cores that Act in Nucleating Stress Granules Upstream of G3BP1

(2020) Luca Cirillo et al.   CURRENT BIOLOGY

Oxidative stress regulates progenitor behavior and cortical neurogenesis

(2020) Angela Chui et al.   DEVELOPMENT

Competing Protein-RNA Interaction Networks Control Multiphase Intracellular Organization

(2020) David W. Sanders et al.   CELL

G3BP1 Is a Tunable Switch that Triggers Phase Separation to Assemble Stress Granules

(2020) Peiguo Yang et al.   CELL

RNA-Induced Conformational Switching and Clustering of G3BP Drive Stress Granule Assembly by Condensation

(2020) Jordina Guillén-Boixet et al.   CELL

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

(2020) Dennis Lal et al.   Genome Medicine

Neurodevelopmental Disorders: From Genetics to Functional Pathways

(2020) Ilaria Parenti et al.   TRENDS IN NEUROSCIENCES

Evidence for 28 genetic disorders discovered by combining healthcare and research data

(2020) Joanna Kaplanis et al.   NATURE

UBAP2L arginine methylation by PRMT1 modulates stress granule assembly

(2019) Chuyu Huang et al.   CELL DEATH AND DIFFERENTIATION

Human 3D cellular model of hypoxic brain injury of prematurity

(2019) Anca M. Pașca et al.   NATURE MEDICINE

Heat resilience in embryonic zebrafish revealed by an in vivo stress granule reporter

(2019) Ruiqi Wang et al.   JOURNAL OF CELL SCIENCE

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

(2019) Hui Guo et al.   Science Advances

Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample

(2019) Jian Jiao et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

AnnotSV: an integrated tool for structural variations annotation

(2018) Véronique Geoffroy et al.   BIOINFORMATICS

Context-Dependent and Disease-Specific Diversity in Protein Interactions within Stress Granules

(2018) Sebastian Markmiller et al.   CELL

High-Density Proximity Mapping Reveals the Subcellular Organization of mRNA-Associated Granules and Bodies

(2018) Ji-Young Youn et al.   MOLECULAR CELL

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

(2018) F. Musacchia et al.   BMC BIOINFORMATICS

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

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

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

(2018) Mingfeng Li et al.   SCIENCE

BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

(2016) Vagheesh Narasimhan et al.   BIOINFORMATICS

UNR/CSDE1 Drives a Post-transcriptional Program to Promote Melanoma Invasion and Metastasis

(2016) Laurence Wurth et al.   CANCER CELL

ATPase-Modulated Stress Granules Contain a Diverse Proteome and Substructure

(2016) Saumya Jain et al.   CELL

G3BP–Caprin1–USP10 complexes mediate stress granule condensation and associate with 40S subunits

(2016) Nancy Kedersha et al.   JOURNAL OF CELL BIOLOGY

Neural plasticity and behavior - sixty years of conceptual advances

(2016) J. David Sweatt   JOURNAL OF NEUROCHEMISTRY

The rules and impact of nonsense-mediated mRNA decay in human cancers

(2016) Rik G H Lindeboom et al.   NATURE GENETICS

Principles and Properties of Stress Granules

(2016) David S.W. Protter et al.   TRENDS IN CELL BIOLOGY

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards 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

Stress-induced perinatal and transgenerational epigenetic programming of brain development and mental health

(2015) Olena Babenko et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

(2015) Justin Cotney et al.   Nature Communications

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

(2015) Neil A. Miller et al.   Genome Medicine

VaRank: a simple and powerful tool for ranking genetic variants

(2015) Véronique Geoffroy et al.   PeerJ

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

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

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

(2013) Lam S. Nguyen et al.   HUMAN MOLECULAR GENETICS

The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth

(2013) Lachlan A. Jolly et al.   HUMAN MOLECULAR GENETICS

The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes

(2013) Alicia Subtil-Rodríguez et al.   NUCLEIC ACIDS RESEARCH

Transcriptional co-regulation of neuronal migration and laminar identity in the neocortex

(2012) K. Y. Kwan et al.   DEVELOPMENT

Transient Sequestration of TORC1 into Stress Granules during Heat Stress

(2012) Terunao Takahara et al.   MOLECULAR CELL

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

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

(2011) Jennifer C. Darnell et al.   CELL

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Behavioural phenotyping assays for mouse models of autism

(2010) Jill L. Silverman et al.   NATURE REVIEWS NEUROSCIENCE

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

mRNA Localization: Gene Expression in the Spatial Dimension

(2009) Kelsey C. Martin et al.   CELL

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

(2009) Prateek Kumar et al.   Nature Protocols

RNA granules: post-transcriptional and epigenetic modulators of gene expression

(2009) Paul Anderson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A Translational Profiling Approach for the Molecular Characterization of CNS Cell Types

(2008) Myriam Heiman et al.   CELL

P bodies promote stress granule assembly inSaccharomyces cerevisiae

(2008) J. Ross Buchan et al.   JOURNAL OF CELL BIOLOGY

Formation of stress granules inhibits apoptosis by suppressing stress-responsive MAPK pathways

(2008) Kyoko Arimoto et al.   NATURE CELL BIOLOGY