Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease
出版年份 2023 全文链接
标题
Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease
作者
关键词
-
出版物
MOVEMENT DISORDERS
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2023-11-06
DOI
10.1002/mds.29610
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。- Genome‐Wide Analysis of Structural Variants in Parkinson Disease
- (2023) Kimberley J. Billingsley et al. ANNALS OF NEUROLOGY
- Genotype-phenotype correlation of Parkinson's disease with PRKN variants
- (2022) Hiroyo Yoshino et al. NEUROBIOLOGY OF AGING
- Long-read mapping to repetitive reference sequences using Winnowmap2
- (2022) Chirag Jain et al. NATURE METHODS
- Search and sequence analysis tools services from EMBL-EBI in 2022
- (2022) Fábio Madeira et al. NUCLEIC ACIDS RESEARCH
- Age Cut Off for Early Onset Parkinson Disease: Recommendations from the EOPD Disease Task Force
- (2022) Raja Mehanna et al. Movement Disorders Clinical Practice
- Assessing the Relationship Between Monoallelic PRKN Mutations and Parkinson’s Risk
- (2021) Steven J Lubbe et al. HUMAN MOLECULAR GENETICS
- Heterozygous PRKN mutations are common but do not increase the risk of Parkinson’s disease
- (2021) William Zhu et al. BRAIN
- Characterization of recessive Parkinson's disease in a large multicenter study
- (2020) Suzanne Lesage et al. ANNALS OF NEUROLOGY
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- The role of genetics in Parkinson’s disease: a large cohort study in Chinese mainland population
- (2020) Yuwen Zhao et al. BRAIN
- PLA2G6 variants associated with the number of affected alleles in Parkinson’s disease in Japan
- (2020) Kensuke Daida et al. NEUROBIOLOGY OF AGING
- Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease
- (2020) Eric Yu et al. MOVEMENT DISORDERS
- Deep brain stimulation for monogenic Parkinson’s disease: a systematic review
- (2019) Tomi Kuusimäki et al. JOURNAL OF NEUROLOGY
- Long-Read Sequencing Emerging in Medical Genetics
- (2019) Tuomo Mantere et al. Frontiers in Genetics
- Transposable elements in human genetic disease
- (2019) Lindsay M. Payer et al. NATURE REVIEWS GENETICS
- AnnotSV: an integrated tool for structural variations annotation
- (2018) Véronique Geoffroy et al. BIOINFORMATICS
- Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin , PINK1 , DJ1: MDSGene Systematic Review
- (2018) Meike Kasten et al. MOVEMENT DISORDERS
- Accurate detection of complex structural variations using single-molecule sequencing
- (2018) Fritz J. Sedlazeck et al. NATURE METHODS
- Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature
- (2017) Susanne A. Schneider et al. MOVEMENT DISORDERS
- Parkinson disease
- (2017) Werner Poewe et al. Nature Reviews Disease Primers
- Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
- (2015) Xiaoyu Chen et al. BIOINFORMATICS
- Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's disease
- (2015) Johanna Huttenlocher et al. HUMAN MOLECULAR GENETICS
- Genomic instability in the PARK2 locus is associated with Parkinson’s disease
- (2015) Wojciech Ambroziak et al. JOURNAL OF APPLIED GENETICS
- MDS clinical diagnostic criteria for Parkinson's disease
- (2015) Ronald B. Postuma et al. MOVEMENT DISORDERS
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
- (2012) H. Thorvaldsdottir et al. BRIEFINGS IN BIOINFORMATICS
- Systematic Review and UK-Based Study ofPARK2 (parkin), PINK1, PARK7 (DJ-1)andLRRK2in early-onset Parkinson's disease
- (2012) Laura L. Kilarski et al. MOVEMENT DISORDERS
- Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines
- (2010) Jun Mitsui et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy
- (2010) Noriyuki Matsuda et al. JOURNAL OF CELL BIOLOGY
- A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2
- (2010) D. M. Kay et al. NEUROLOGY
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started