# Matthew E. Hurles

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/matthew-e-hurles/

## Facts

| Field | Value |
| --- | --- |
| Citations | 127,801 |
| Field | Genomics and Rare Diseases |
| h-index | 117 |
| i10-index | 262 |
| Last Known Institution | Wellcome Sanger Institute |
| OpenAlex ID | https://openalex.org/A5068997042 |
| ORCID iD | https://orcid.org/0000-0002-2333-7015 |
| Works | 386 |

## Researcher papers

- [A global reference for human genetic variation](https://scholariq.org/papers/a-global-reference-for-human-genetic-variation/)
- [A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes](https://scholariq.org/papers/a-systematic-survey-of-loss-of-function-variants-in-human-protein-coding-genes/)
- [Copy Number Variation in Human Health, Disease, and Evolution](https://scholariq.org/papers/copy-number-variation-in-human-health-disease-and-evolution/)
- [Mapping copy number variation by population-scale genome sequencing](https://scholariq.org/papers/mapping-copy-number-variation-by-population-scale-genome-sequencing/)
- [The UK10K project identifies rare variants in health and disease](https://scholariq.org/papers/the-uk10k-project-identifies-rare-variants-in-health-and-disease/)
- [Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study](https://scholariq.org/papers/prenatal-exome-sequencing-analysis-in-fetal-structural-anomalies-detected-by/)
- [International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases](https://scholariq.org/papers/international-cooperation-to-enable-the-diagnosis-of-all-rare-genetic-diseases/)
- [Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel](https://scholariq.org/papers/integrating-sequence-and-array-data-to-create-an-improved-1000-genomes-project/)
- [CEP152 is a genome maintenance protein disrupted in Seckel syndrome](https://scholariq.org/papers/cep152-is-a-genome-maintenance-protein-disrupted-in-seckel-syndrome/)
- [Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families](https://scholariq.org/papers/discovery-of-four-recessive-developmental-disorders-using-probabilistic-genotype/)

## Researcher topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Genetic Associations and Epidemiology](https://scholariq.org/topics/genetic-associations-and-epidemiology/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Cancer Genomics and Diagnostics](https://scholariq.org/topics/cancer-genomics-and-diagnostics/)

## Researcher university

- [Wellcome Sanger Institute](https://scholariq.org/institutions/wellcome-sanger-institute/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.