Related references
Note: Only part of the references are listed.Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Christian R. Marshall et al.
NATURE GENETICS (2017)
Prevalence and architecture of de novo mutations in developmental disorders
Jeremy F. McRae et al.
NATURE (2017)
The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability
Tarjinder Singh et al.
NATURE GENETICS (2017)
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Jack A. Kosmicki et al.
NATURE GENETICS (2017)
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
Candace T. Myers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Schizophrenia risk from complex variation of complement component 4
Aswin Sekar et al.
NATURE (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Tarjinder Singh et al.
NATURE NEUROSCIENCE (2016)
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
Andrea Ganna et al.
NATURE NEUROSCIENCE (2016)
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
Stefan H. Lelieveld et al.
NATURE NEUROSCIENCE (2016)
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
Giulio Genovese et al.
NATURE NEUROSCIENCE (2016)
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia
Atsushi Takata et al.
NEURON (2016)
Large-scale discovery of novel genetic causes of developmental disorders
T. W. Fitzgerald et al.
NATURE (2015)
Analysis of copy number variations at 15 schizophrenia-associated loci
Elliott Rees et al.
BRITISH JOURNAL OF PSYCHIATRY (2014)
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
S. E. McCarthy et al.
MOLECULAR PSYCHIATRY (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
De novo mutations in schizophrenia implicate synaptic networks
Menachem Fromer et al.
NATURE (2014)
A polygenic burden of rare disruptive mutations in schizophrenia
Shaun M. Purcell et al.
NATURE (2014)
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov et al.
NATURE (2014)
Biological insights from 108 schizophrenia-associated genetic loci
Stephan Ripke et al.
NATURE (2014)
A framework for the interpretation of de novo mutation in human disease
Kaitlin E. Samocha et al.
NATURE GENETICS (2014)
Loss-of-Function Variants in Schizophrenia Risk and SETD1A as a Candidate Susceptibility Gene
Atsushi Takata et al.
NEURON (2014)
Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes
Michel Guipponi et al.
PLOS ONE (2014)
Autism spectrum disorder severity reflects the average contribution of de novo and familial influences
Elise B. Robinson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network
Suleyman Gulsuner et al.
CELL (2013)
dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
Xiaoming Liu et al.
HUMAN MUTATION (2013)
De novo mutations in epileptic encephalopathies
Andrew S. Allen et al.
NATURE (2013)
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
Slave Petrovski et al.
PLOS GENETICS (2013)
Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings
Robert A. Power et al.
JAMA PSYCHIATRY (2013)
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Dheeraj Malhotra et al.
CELL (2012)
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Anita Rauch et al.
LANCET (2012)
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale et al.
NATURE (2012)
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephan J. Sanders et al.
NATURE (2012)
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O'Roak et al.
NATURE (2012)
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
Bin Xu et al.
NATURE GENETICS (2012)
Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs
S. Hong Lee et al.
NATURE GENETICS (2012)
De Novo Gene Disruptions in Children on the Autistic Spectrum
Ivan Iossifov et al.
NEURON (2012)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Primer3-new capabilities and interfaces
Andreas Untergasser et al.
NUCLEIC ACIDS RESEARCH (2012)
Quantitative evaluation of all hexamers as exonic splicing elements
Shengdong Ke et al.
GENOME RESEARCH (2011)
dbNSFP: A Lightweight Database of Human Nonsynonymous SNPs and Their Functional Predictions
Xiaoming Liu et al.
HUMAN MUTATION (2011)
Integrative genomics viewer
James T. Robinson et al.
NATURE BIOTECHNOLOGY (2011)
Exome sequencing supports a de novo mutational paradigm for schizophrenia
Bin Xu et al.
NATURE GENETICS (2011)
Increased exonic de novo mutation rate in individuals with schizophrenia
Simon L. Girard et al.
NATURE GENETICS (2011)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
Systematic identification and analysis of exonic splicing silencers
ZF Wang et al.
CELL (2004)
Predictive identification of exonic splicing enhancers in human genes
WG Fairbrother et al.
SCIENCE (2002)