Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
出版年份 2020 全文链接
标题
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
作者
关键词
-
出版物
Nature Communications
Volume 11, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-10-01
DOI
10.1038/s41467-020-18723-y
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
- (2020) F. Kyle Satterstrom et al. CELL
- Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD
- (2019) Lindsey D. Goodman et al. NATURE NEUROSCIENCE
- Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
- (2019) Tristan T. Sands et al. ANNALS OF NEUROLOGY
- Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
- (2019) Elizabeth K. Ruzzo et al. CELL
- Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
- (2019) Pamela Feliciano et al. npj Genomic Medicine
- Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders
- (2019) Tychele N. Turner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
- (2018) Pamela Feliciano et al. NEURON
- Paternally inherited cis-regulatory structural variants are associated with autism
- (2018) William M. Brandler et al. SCIENCE
- Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
- (2018) Bradley P. Coe et al. NATURE GENETICS
- A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
- (2017) Eric Lee et al. GENETICS IN MEDICINE
- Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
- (2017) Nuria C. Bramswig et al. HUMAN GENETICS
- Structural Basis for the Versatile and Methylation-Dependent Binding of CTCF to DNA
- (2017) Hideharu Hashimoto et al. MOLECULAR CELL
- Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
- (2017) Holly A F Stessman et al. NATURE GENETICS
- Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
- (2017) Madeleine R Geisheker et al. NATURE NEUROSCIENCE
- Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
- (2016) Holly A.F. Stessman et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- 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
- Novel genetic causes for cerebral visual impairment
- (2015) Daniëlle GM Bosch et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing
- (2014) Evan A. Boyle et al. BIOINFORMATICS
- Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
- (2014) Raphael Bernier et al. CELL
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
- (2014) Céline Helsmoortel et al. NATURE 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
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- Genotype to phenotype relationships in autism spectrum disorders
- (2014) Jonathan Chang et al. NATURE NEUROSCIENCE
- Diagnostic and Statistical Manual of Mental Disorders, 5th Edition, and Clinical Utility
- (2013) Michael B. First JOURNAL OF NERVOUS AND MENTAL DISEASE
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
- (2012) B. J. O'Roak et al. SCIENCE
- RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion
- (2011) C Xiang et al. CELL DEATH AND DIFFERENTIATION
- Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
- (2011) Dan Levy et al. NEURON
- Robust relationship inference in genome-wide association studies
- (2010) Ani Manichaikul et al. BIOINFORMATICS
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started