标题
The role of de novo mutations in the development of amyotrophic lateral sclerosis
作者
关键词
-
出版物
HUMAN MUTATION
Volume 38, Issue 11, Pages 1534-1541
出版商
Wiley
发表日期
2017-07-17
DOI
10.1002/humu.23295
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。- De novo PMP2mutations in families with type 1 Charcot–Marie–Tooth disease
- (2016) William W. Motley et al. BRAIN
- NEK1mutations in familial amyotrophic lateral sclerosis
- (2016) David Brenner et al. BRAIN
- NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
- (2016) Kevin P Kenna et al. NATURE GENETICS
- Genome-wide patterns and properties of de novo mutations in humans
- (2015) Laurent C Francioli et al. NATURE GENETICS
- Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
- (2015) Axel Freischmidt et al. NATURE NEUROSCIENCE
- Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
- (2015) E. T. Cirulli et al. SCIENCE
- Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS
- (2015) Karyn Meltz Steinberg et al. Scientific Reports
- Whole-genome sequence variation, population structure and demographic history of the Dutch population
- (2014) Laurent C Francioli et al. NATURE GENETICS
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
- (2014) Bradley N. Smith et al. NEURON
- DeNovoGear: de novo indel and point mutation discovery and phasing
- (2013) Avinash Ramu et al. NATURE METHODS
- Exome sequencing to identify de novo mutations in sporadic ALS trios
- (2013) Alessandra Chesi et al. NATURE NEUROSCIENCE
- C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
- (2013) M. van Blitterswijk et al. NEUROLOGY
- Evidence for an oligogenic basis of amyotrophic lateral sclerosis
- (2012) Marka van Blitterswijk et al. HUMAN MOLECULAR GENETICS
- Patterns and rates of exonic de novo mutations in autism spectrum disorders
- (2012) Benjamin M. Neale et al. NATURE
- Rate of de novo mutations and the importance of father’s age to disease risk
- (2012) Augustine Kong et al. NATURE
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Parental age and the risk of amyotrophic lateral sclerosis
- (2012) Sonja W. de Jong et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- De novo copy number variants associated with intellectual disability have a paternal origin and age bias
- (2011) J. Y. Hehir-Kwa et al. JOURNAL OF MEDICAL GENETICS
- Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology
- (2011) M. H. B. Huisman et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing
- (2011) Joke Reumers et al. NATURE BIOTECHNOLOGY
- Performance comparison of whole-genome sequencing platforms
- (2011) Hugo Y K Lam et al. NATURE BIOTECHNOLOGY
- De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
- (2011) Alexander Hoischen et al. NATURE GENETICS
- Proteins Encoded in Genomic Regions Associated with Immune-Mediated Disease Physically Interact and Suggest Underlying Biology
- (2011) Elizabeth J. Rossin et al. PLoS Genetics
- Using genome-wide pathway analysis to unravel the etiology of complex diseases
- (2009) Clara C. Elbers et al. GENETIC EPIDEMIOLOGY
- Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
- (2009) Da Wei Huang et al. Nature Protocols
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