Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
出版年份 2014 全文链接
标题
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
作者
关键词
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出版物
NATURE GENETICS
Volume 46, Issue 12, Pages 1293-1302
出版商
Springer Nature
发表日期
2014-10-20
DOI
10.1038/ng.3120
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Reconstructing complex regions of genomes using long-read sequencing technology
- (2014) J. Huddleston et al. GENOME RESEARCH
- Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder
- (2013) Santhosh Girirajan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Evolution and diversity of copy number variation in the great ape lineage
- (2013) P. H. Sudmant et al. GENOME RESEARCH
- Hominoid fission of chromosome 14/15 and the role of segmental duplications
- (2013) Giuliana Giannuzzi et al. GENOME RESEARCH
- A mitochondrial genome sequence of a hominin from Sima de los Huesos
- (2013) Matthias Meyer et al. NATURE
- The complete genome sequence of a Neanderthal from the Altai Mountains
- (2013) Kay Prüfer et al. NATURE
- Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions
- (2013) Xander Nuttle et al. NATURE METHODS
- Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations
- (2013) Hidehito Inagaki et al. Nature Communications
- Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing
- (2012) Andy Itsara et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
- (2012) Megan Y. Dennis et al. CELL
- Structural diversity and African origin of the 17q21.31 inversion polymorphism
- (2012) Karyn Meltz Steinberg et al. NATURE GENETICS
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
- (2012) B. J. O'Roak et al. SCIENCE
- Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3
- (2011) Nigel M. Williams et al. AMERICAN JOURNAL OF PSYCHIATRY
- An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
- (2011) Erin B. Kaminsky et al. GENETICS IN MEDICINE
- Further clinical and molecular delineation of the 15q24 microdeletion syndrome
- (2011) Heather C Mefford et al. JOURNAL OF MEDICAL GENETICS
- Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
- (2011) Claudia M B Carvalho et al. NATURE GENETICS
- A copy number variation morbidity map of developmental delay
- (2011) Gregory M Cooper et al. NATURE GENETICS
- Development and analysis of a germline BAC resource for the sea lamprey, a vertebrate that undergoes substantial chromatin diminution
- (2010) Jeramiah J. Smith et al. CHROMOSOMA
- A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2
- (2010) Kathrin Bengesser et al. HUMAN MUTATION
- Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia
- (2010) M. J. Wat et al. JOURNAL OF MEDICAL GENETICS
- A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
- (2010) Francesca Antonacci et al. NATURE GENETICS
- Diversity of Human Copy Number Variation and Multicopy Genes
- (2010) Peter H. Sudmant et al. SCIENCE
- Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
- (2009) Ayman W. El-Hattab et al. HUMAN GENETICS
- Characterization of six human disease-associated inversion polymorphisms
- (2009) Francesca Antonacci et al. HUMAN MOLECULAR GENETICS
- A burst of segmental duplications in the genome of the African great ape ancestor
- (2009) Tomas Marques-Bonet et al. NATURE
- A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
- (2009) Marwan Shinawi et al. NATURE GENETICS
- Personalized copy number and segmental duplication maps using next-generation sequencing
- (2009) Can Alkan et al. NATURE GENETICS
- 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
- (2009) Ingo Helbig et al. NATURE GENETICS
- A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation
- (2009) P. J. Hastings et al. PLoS Genetics
- Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
- (2008) D T Miller et al. JOURNAL OF MEDICAL GENETICS
- Rare chromosomal deletions and duplications increase risk of schizophrenia
- (2008) Jennifer L. Stone et al. NATURE
- Large recurrent microdeletions associated with schizophrenia
- (2008) Hreinn Stefansson et al. NATURE
- Mapping and sequencing of structural variation from eight human genomes
- (2008) Jeffrey M. Kidd et al. NATURE
- Evolutionary toggling of the MAPT 17q21.31 inversion region
- (2008) Michael C Zody et al. NATURE GENETICS
- A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
- (2008) Andrew J Sharp et al. NATURE GENETICS
- Segmental Duplications Arise from Pol32-Dependent Repair of Broken Forks through Two Alternative Replication-Based Mechanisms
- (2008) Celia Payen et al. PLoS Genetics
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