Matthew E. Hurles
Genetics · 2004–2019
A researcher in the Science corpus: 30 papers; trusts 4 researchers and is trusted by 0 researchers here, as inferred from the citation graph.
Subfields
- Genetics — 375 citations into it
- Molecular Biology — 316 citations into it
- Plant Science — 102 citations into it
- Artificial Intelligence — 13 citations into it
- Cell Biology — 7 citations into it
Whom Matthew E. Hurles trusts overall
Their strongest outbound trust, strongest first, inferred from their citations.
Papers from Matthew E. Hurles's perspective
Ordered by how strongly the researchers Matthew E. Hurles trusts endorse each paper. Same corpus, a different order for every researcher.
- The Human Gene Mutation Database: 2008 update
- A gene atlas of the mouse and human protein-encoding transcriptomes. (Proceedings of the National Academy of Sciences of the United States of America)
- Distribution and intensity of constraint in mammalian genomic sequence. (Genome Research)
- Copy Number Variation in Human Health, Disease, and Evolution (Annual review of genomics and human genetics (Print))
- Common deletion polymorphisms in the human genome (Nature Genetics)
- A tiling resolution DNA microarray with complete coverage of the human genome (Nature Genetics)
- Exome sequencing as a tool for Mendelian disease gene discovery
- Prediction of deleterious human alleles.
- An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people (Science)
- Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans (Nature)
Their papers
- Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry (2008) — 3,840 citations
- A global reference for human genetic variation (2015) — 16,925 citations
- Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome (2007) — 1,242 citations
- A systematic survey of loss-of-function variants in human protein-coding genes (2012) — 1,227 citations
- A high-resolution survey of deletion polymorphism in the human genome (2006) — 717 citations
- Integrating common and rare genetic variation in diverse human populations (2010) — 3,033 citations
- The UK10K project identifies rare variants in health and disease (2015) — 1,063 citations
- Cerebral organoids model human brain development and microcephaly (2013) — 4,649 citations
- The DNA sequence of the human X chromosome (2005) — 1,099 citations
- Large-scale discovery of novel genetic causes of developmental disorders (2014) — 1,061 citations
- Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study (2019) — 633 citations
- De novo mutations in regulatory elements in neurodevelopmental disorders (2018) — 234 citations
- Prevalence and architecture of de novo mutations in developmental disorders (2017) — 1,392 citations
- The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery (2015) — 453 citations
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data (2015) — 1,792 citations
- Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel (2015) — 384 citations
- Bayesian refinement of association signals for 14 loci in 3 common diseases (2012) — 508 citations
- An integrated map of genetic variation from 1,092 human genomes (2012) — 8,008 citations
- Mapping copy number variation by population scale genome sequencing (2011) — 1,130 citations
- Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants (2011) — 431 citations