- Home
- Publications
- Publication Search
- Publication Details
Title
Exome Pool-Seq in neurodevelopmental disorders
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 25, Issue 12, Pages 1364-1376
Publisher
Springer Nature
Online
2017-11-20
DOI
10.1038/s41431-017-0022-1
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
- Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
- (2017) Holly A F Stessman et al. NATURE GENETICS
- REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
- (2016) Nilah M. Ioannidis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules
- (2016) Korinna Kochinke et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency
- (2016) Chloé Saunier et al. HUMAN MUTATION
- High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
- (2016) Francisco Martínez et al. JOURNAL OF MEDICAL GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
- (2016) Karthik A Jagadeesh et al. NATURE GENETICS
- denovo-db: a compendium of humande novovariants
- (2016) Tychele N. Turner et al. NUCLEIC ACIDS RESEARCH
- Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
- (2015) Rocio Acuna-Hidalgo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- New insights into Brunner syndrome and potential for targeted therapy
- (2015) E.E. Palmer et al. CLINICAL GENETICS
- 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
- Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
- (2015) Renske Oegema et al. HUMAN MOLECULAR GENETICS
- Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
- (2015) Detelina Grozeva et al. HUMAN MUTATION
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- Erratum: Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database
- (2015) Jinchen Li et al. MOLECULAR PSYCHIATRY
- dSysMap: exploring the edgetic role of disease mutations
- (2015) Roberto Mosca et al. NATURE METHODS
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Extreme-phenotype genome-wide association study (XP-GWAS): a method for identifying trait-associated variants by sequencing pools of individuals selected from a diversity panel
- (2015) Jinliang Yang et al. PLANT JOURNAL
- The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
- (2014) Nadia Bahi-Buisson et al. BRAIN
- Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
- (2014) Claire Redin et al. JOURNAL OF MEDICAL GENETICS
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Refining analyses of copy number variation identifies specific genes associated with developmental delay
- (2014) Bradley P Coe et al. NATURE GENETICS
- Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
- (2014) Gillian I Rice et al. NATURE GENETICS
- Sequencing pools of individuals — mining genome-wide polymorphism data without big funding
- (2014) Christian Schlötterer et al. NATURE REVIEWS GENETICS
- In silico prediction of splice-altering single nucleotide variants in the human genome
- (2014) Xueqiu Jian et al. NUCLEIC ACIDS RESEARCH
- The human splicing code reveals new insights into the genetic determinants of disease
- (2014) H. Y. Xiong et al. SCIENCE
- De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability
- (2013) Anne Gregor et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability
- (2013) Nina Bögershausen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
- (2013) Yoko Aoki et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
- (2013) Amélie Piton et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Functional Analysis of a De NovoACTBMutation in a Patient with Atypical Baraitser-Winter Syndrome
- (2013) Jennifer J. Johnston et al. HUMAN MUTATION
- dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
- (2013) Xiaoming Liu et al. HUMAN MUTATION
- A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations inPHF6in seven females with a distinct phenotype
- (2013) Christiane Zweier et al. JOURNAL OF MEDICAL GENETICS
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
- Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
- (2012) Juliane Hoyer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- 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
- Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift
- (2012) Pablo Cingolani et al. Frontiers in Genetics
- Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
- (2011) Z Stark et al. CLINICAL GENETICS
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- Ubiquitination of K-Ras Enhances Activation and Facilitates Binding to Select Downstream Effectors
- (2011) A. T. Sasaki et al. Science Signaling
- BEDTools: a flexible suite of utilities for comparing genomic features
- (2010) Aaron R. Quinlan et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
- (2010) Sabine Endele et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the chromatin-associated protein ATRX
- (2008) Richard J. Gibbons et al. HUMAN MUTATION
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now