Whole-exome sequencing of 228 patients with sporadic Parkinson’s disease
暂无分享,去创建一个
Thomas M. Keane | Shane A. McCarthy | R. Durbin | C. Ponting | C. Webber | C. Sandor | T. Keane | W. Haerty | Frantisek Honti | K. Talbot | R. Wade-Martins | K. Szewczyk-Krolikowski | Paul R Tomlinson | M. Hu | Stephanie Millin | Samuel G. Evetts
[1] Houeto Jean-Luc. [Parkinson's disease]. , 2022, La Revue du praticien.
[2] M. Burns,et al. Case-Control Study , 2020, Definitions.
[3] M. Scully,et al. Rituximab‐induced acute and delayed serum sickness in thrombotic thrombocytopenic purpura: the role of anti‐rituximab antibodies , 2019, British journal of haematology.
[4] H. Woodrow,et al. : A Review of the , 2018 .
[5] Brahmanpally Balkishan,et al. A Clinicopathological Study of 100 Cases of Cervical Lymphadenopathy , 2016 .
[6] Andrew B Singleton,et al. Genetics in Parkinson disease: Mendelian versus non‐Mendelian inheritance , 2016, Journal of neurochemistry.
[7] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[8] Tom R. Gaunt,et al. The UK10K project identifies rare variants in health and disease , 2015, Nature.
[9] Yakir A Reshef,et al. Partitioning heritability by functional annotation using genome-wide association summary statistics , 2015, Nature Genetics.
[10] Y. Ben-Shlomo,et al. Parkinson’s Disease Subtypes in the Oxford Parkinson Disease Centre (OPDC) Discovery Cohort , 2015, Journal of Parkinson's disease.
[11] S. Robertson,et al. Congenital mirror movements: Phenotypes associated with DCC and RAD51 mutations , 2015, Journal of the Neurological Sciences.
[12] C. van Broeckhoven,et al. Progress in unraveling the genetic etiology of Parkinson disease in a genomic era. , 2015, Trends in genetics : TIG.
[13] Y. Ben-Shlomo,et al. Letter in response to Picillo et al., in relation to Szewczyk-Krolikowski et al.: the influence of age and gender on motor and non-motor features of early Parkinson's disease: initial findings from the Oxford Parkinson disease Center (OPDC) discovery cohort. , 2014, Parkinsonism & related disorders.
[14] Chuong B. Do,et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease , 2014, Nature Genetics.
[15] Nicolas Alexandre,et al. RAD51 deficiency disrupts the corticospinal lateralization of motor control. , 2013, Brain : a journal of neurology.
[16] Ran An,et al. Association Studies of MMP-9 in Parkinson’s Disease and Amyotrophic Lateral Sclerosis , 2013, PloS one.
[17] Kenny Q. Ye,et al. An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.
[18] Eng-King Tan,et al. Whole-genome and whole-exome sequencing in neurological diseases , 2012, Nature Reviews Neurology.
[19] Adam Kiezun,et al. Exome sequencing and the genetic basis of complex traits , 2012, Nature Genetics.
[20] M. Cincotta,et al. Mirror Movements in Movement Disorders: A Review , 2012, Tremor and other hyperkinetic movements.
[21] Chuong B. Do,et al. Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database , 2012, PLoS genetics.
[22] Yurii S. Aulchenko,et al. The Empirical Power of Rare Variant Association Methods: Results from Sanger Sequencing in 1,998 Individuals , 2012, PLoS genetics.
[23] Heng Li,et al. A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data , 2011, Bioinform..
[24] N. Pedersen,et al. Heritability of Parkinson disease in Swedish twins: a longitudinal study , 2011, Neurobiology of Aging.
[25] Xihong Lin,et al. Rare-variant association testing for sequencing data with the sequence kernel association test. , 2011, American journal of human genetics.
[26] Gonçalo R. Abecasis,et al. The variant call format and VCFtools , 2011, Bioinform..
[27] H. Adami,et al. Epidemiology and etiology of Parkinson’s disease: a review of the evidence , 2011, European Journal of Epidemiology.
[28] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[29] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[30] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[31] Gonçalo R. Abecasis,et al. The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..
[32] E. Tolosa,et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study , 2008, The Lancet Neurology.
[33] Manuel A. R. Ferreira,et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.
[34] S. Lorenzl,et al. Expression of MMP-2, MMP-9, and MMP-1 and Their Endogenous Counterregulators TIMP-1 and TIMP-2 in Postmortem Brain Tissue of Parkinson's Disease , 2002, Experimental Neurology.
[35] M. Ashburner,et al. Gene Ontology: tool for the unification of biology , 2000, Nature Genetics.
[36] J. Hughes,et al. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. , 1992, Journal of neurology, neurosurgery, and psychiatry.
[37] R. Snow,et al. Review of the Evidence. , 1964, Science.
[38] Y. Ben-Shlomo,et al. The influence of age and gender on motor and non-motor features of early Parkinson's disease: initial findings from the Oxford Parkinson Disease Center (OPDC) discovery cohort. , 2014, Parkinsonism & Related Disorders.
[39] Maja O’Connor,et al. A Longitudinal Study , 2013 .
[40] Elizabeth M. Smigielski,et al. dbSNP: the NCBI database of genetic variation , 2001, Nucleic Acids Res..
[41] Daniel Rios,et al. Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .