Hurles, Matthew E.

Cerebral organoids model human brain development and microcephaly

Lancaster, M. A., Renner, M., Martin, C.-A., Wenzel, D., Bicknell, L. S., Hurles, M. E., Homfray, T., Penninger, J. M., Jackson, A. P., & Knoblich, J. A. (2013) · Nature

Neurogenesis and neuroplasticity mechanismsPluripotent Stem Cells Research

Cited by 5,372

Accurate whole human genome sequencing using reversible terminator chemistry

Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 3,684

Origins and functional impact of copy number variation in the human genome

The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,970

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,272

Copy number variation in human health, disease, and evolution

Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,207

Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome

Korbel, J. O., Urban, A. E., Affourtit, J. P., Godwin, B., Grubert, F., Simons, J. F., Kim, P. M., Palejev, D., Carriero, N. J., Du, L., et al. (2007) · Science

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,163

Mapping copy number variation by population-scale genome sequencing

1000 Genomes Project, Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C., Abyzov, A., Yoon, S. C., Ye, K., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,140

The DNA sequence of the human X chromosome

Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., et al. (2005) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesChromosomal and Genetic Variations

Cited by 1,129

A brief history of human disease genetics

Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 697

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 615

Large, rare chromosomal deletions associated with severe early-onset obesity

Bochukova, E. G., Huang, N., Keogh, J., Henning, E., Purmann, C., Blaszczyk, K., Saeed, S., Hamilton-Shield, J., Clayton-Smith, J., O’Rahilly, S., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 613

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 543

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Study, S. S., Singh, T., Study, I., Study, D., UK10 K Consortium, Kurki, M. I., Curtis, D., Purcell, S. M., Crooks, L., McRae, J., et al. (2016) · Nature Neuroscience

Schizophrenia research and treatmentGenomics and Rare Diseases

Cited by 452

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., et al. (2017) · The American Journal of Human Genetics

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 447

Human Evolutionary Genetics

Jobling, M., Hollox, E., Hurles, M., Kivisild, T., & Tyler-Smith, C. (2013) · Garland Science eBooks

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 385

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Niemi, M. E. K., Martin, H. C., Rice, D. L., Gallone, G., Gordon, S., Kelemen, M., McAloney, K., McRae, J., Radford, E. J., Yu, S., et al. (2018) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 340

Towards a comprehensive structural variation map of an individual human genome

Pang, A. W., MacDonald, J. R., Pinto, D., Wei, J., Rafiq, M. A., Conrad, D. F., Park, H., Hurles, M. E., Lee, C., Venter, J. C., et al. (2010) · Genome Biology

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 335

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

Turner, D. J., Miretti, M., Rajan, D., Fiegler, H., Carter, N. P., Blayney, M. L., Beck, S., & Hurles, M. E. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 320

De novo mutations in regulatory elements in neurodevelopmental disorders

Short, P. J., McRae, J. F., Gallone, G., Sifrim, A., Won, H., Geschwind, D. H., Wright, C. F., Firth, H. V., FitzPatrick, D. R., Barrett, J. C., et al. (2018) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 274

Quantifying the contribution of recessive coding variation to developmental disorders

Martin, H. C., Jones, W. D., McIntyre, R., Sanchez-Andrade, G., Sanderson, M., Stephenson, J. D., Jones, C. P., Handsaker, J., Gallone, G., Bruntraeger, M., et al. (2018) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 201

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

Luo, R., Sanders, S. J., Tian, Y., Voineagu, I., Huang, N., Chu, S. H., Klei, L., Cai, C., Ou, J., Lowe, J. K., et al. (2012) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 167

Genetic correlates of phenotypic heterogeneity in autism

Warrier, V., Zhang, X., Reed, P., Havdahl, A., Moore, T. M., Cliquet, F., Leblond, C. S., Rolland, T., Rosengren, A., LEAP, E.-A., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 152

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Thormann, A., Halachev, M., McLaren, W., Moore, D. J., Svinti, V., Campbell, A., Kerr, S. M., Tischkowitz, M., Hunt, S. E., Dunlop, M. G., et al. (2019) · Nature Communications

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

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