Publications by authors named "Matthew Hurles"

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Sperm sequencing reveals extensive positive selection in the male germline.
Matthew D C Neville, Andrew R J Lawson, Rashesh Sanghvi, Federico Abascal, My H Pham, Matthew E Hurles

Nature· November 2025

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Complex de novo structural variants are an underestimated cause of rare disorders.
Hyunchul Jung, Tsun-Po Yang, Susan Walker, Petr Danecek, O Isaac Garcia-Salinas, Matthew Hurles

Nat Commun· November 2025

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Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders.
Olivia Wootton, Patrick Campbell, Sarah Richardson, Sarah J Lindsay, Qin Qin Huang, Matthew E Hurles

Genome Med· October 2025

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Methods applied to neonatal dried blood spot samples for secondary research purposes: a scoping review.
Jordan Canning, Rona J Strawbridge, Zosia Miedzybrodzka, Riccardo E Marioni, Mads Melbye, Matthew E Hurles

Crit Rev Clin Lab Sci· December 2024

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Examining the role of common variants in rare neurodevelopmental conditions.
Qin Qin Huang, Emilie M Wigdor, Daniel S Malawsky, Patrick Campbell, Kaitlin E Samocha, Matthew E Hurles

Nature· December 2024

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Exome sequencing of UK birth cohorts.
Mahmoud Koko, Laurie Fabian, Iaroslav Popov, Ruth Y Eberhardt, Gennadii Zakharov, Matthew E Hurles

Wellcome Open Res· December 2024

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Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
V Kartik Chundru, Zhancheng Zhang, Klaudia Walter, Sarah J Lindsay, Petr Danecek, Matthew E Hurles

Nat Genet· October 2024

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Genetic links between ovarian ageing, cancer risk and de novo mutation rates.
Stasa Stankovic, Saleh Shekari, Qin Qin Huang, Eugene J Gardner, Erna V Ivarsdottir, Matthew E Hurles

Nature· September 2024

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Matthew E Hurles

Nature· August 2024

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Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Andrew J Waters, Timothy Brendler-Spaeth, Danielle Smith, Victoria Offord, Hong Kee Tan, Matthew E Hurles

Nat Genet· July 2024

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Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023.
Sophie Allen, Alice Garrett, Lara Muffley, Shawn Fayer, Julia Foreman, Matthew Hurles

Eur J Hum Genet· May 2024

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Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders.
Emilie M Wigdor, Kaitlin E Samocha, Ruth Y Eberhardt, V Kartik Chundru, Helen V Firth, Matthew E Hurles

Sci Rep· April 2024

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Prospective study design and data analysis in UK Biobank.
Naomi E Allen, Ben Lacey, Deborah A Lawlor, Jill P Pell, John Gallacher, Matthew E Hurles

Sci Transl Med· January 2024

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Detection and characterization of copy-number variants from exome sequencing in the DDD study.
Petr Danecek, Eugene J Gardner, Tomas W Fitzgerald, Giuseppe Gallone, Joanna Kaplanis, Matthew E Hurles

Genet Med Open· January 2024

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Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.
Elizabeth J Radford, Hong-Kee Tan, Malin H L Andersson, James D Stephenson, Eugene J Gardner, Matthew E Hurles

Nat Commun· December 2023

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Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Katie Duckett, Alice Williamson, John W R Kincaid, Kara Rainbow, Laura J Corbin, Matthew E Hurles

J Clin Endocrinol Metab· November 2023

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Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Maria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A Arshad, Stephan C Collins, Matthew E Hurles

Brain· November 2023

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An Atlas of Variant Effects to understand the genome at nucleotide resolution.
Douglas M Fowler, David J Adams, Anna L Gloyn, William C Hahn, Debora S Marks, Matthew E Hurles

Genome Biol· July 2023

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The impact of rare protein coding genetic variation on adult cognitive function.
Chia-Yen Chen, Ruoyu Tian, Tian Ge, Max Lam, Gabriela Sanchez-Andrade, Matthew E Hurles

Nat Genet· June 2023

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Rare genetic variants impact muscle strength.
Yunfeng Huang, Dora Bodnar, Chia-Yen Chen, Gabriela Sanchez-Andrade, Mark Sanderson, Matthew E Hurles

Nat Commun· June 2023

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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Caroline F Wright, Patrick Campbell, Ruth Y Eberhardt, Stuart Aitken, Daniel Perrett, Matthew E Hurles

N Engl J Med· April 2023

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IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.
Stuart Aitken, Helen V Firth, Caroline F Wright, Matthew E Hurles, David R FitzPatrick

HGG Adv· January 2023

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Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study.
Ruth Y Eberhardt, Caroline F Wright, David R FitzPatrick, Matthew E Hurles, Helen V Firth

Genet Med Open· January 2023

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Differentiation of human induced pluripotent stem cells into cortical neural stem cells.
Alexandra Neaverson, Malin H L Andersson, Osama A Arshad, Luke Foulser, Mary Goodwin-Trotman, Matthew E Hurles

Front Cell Dev Biol· January 2023

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A minimal role for synonymous variation in human disease.
Ryan S Dhindsa, Quanli Wang, Dimitrios Vitsios, Oliver S Burren, Fengyuan Hu, Matthew E Hurles

Am J Hum Genet· December 2022

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