De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
Year: 2019
Type: article
Study design: Observational Study
Authors: Nirmal Vadgama, Alan Pittman, Michael Simpson, Niranjanan Nirmalananthan, Robin Murray, Takeo Yoshikawa, Peter De Rijk, Elliott Rees, George Kirov, Deborah Hughes, Tomas Fitzgerald, Mark Kristiansen, Kerra Pearce, Eliza Cerveira, Qihui Zhu, Chengsheng Zhang, Charles Lee, John Hardy, Jamal Nasir
Institutions: UCL Queen Square Institute of Neurology, University College London, King's College London, St George’s University Hospitals NHS Foundation Trust, RIKEN Center for Brain Science, RIKEN, University of Antwerp, Cardiff University, European Bioinformatics Institute, The Jackson Laboratory for Genomic Medicine, St George's, University of London, University of Northampton
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Awards: Using genetic variability in whole transcriptome expression in cells and tissues to understand the pathogenesis of Parkinson's and Alzheimer's disease, G3327757157, MRC Centre for Neuropsychiatric Genetics and Genomics, Understanding the genes for Parkinson's disease, Risk and Modifying factors in Fronto Temporal Dementia
OpenAlex ID: W2922447477