Matthew E. Hurles
Wellcome Sanger Institute(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetic Associations and Epidemiology, Genetics and Neurodevelopmental Disorders, Cancer Genomics and Diagnostics
Most-Cited Works
- → A global reference for human genetic variation(2015)19,538 cited
- → Cerebral organoids model human brain development and microcephaly(2013)5,256 cited
- → Global variation in copy number in the human genome(2006)4,350 cited
- → Integrating common and rare genetic variation in diverse human populations(2010)3,178 cited
- → Origins and functional impact of copy number variation in the human genome(2009)2,045 cited
- → Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes(2007)1,772 cited
- → A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes(2012)1,317 cited
- → Copy Number Variation in Human Health, Disease, and Evolution(2009)1,235 cited
- → Mapping copy number variation by population-scale genome sequencing(2011)1,206 cited
- → Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome(2007)1,182 cited