Publications by authors named "Hilary Martin"

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Somatic mutation and selection at population scale.
Andrew R J Lawson, Federico Abascal, Pantelis A Nicola, Stefanie V Lensing, Amy L Roberts, Hilary C Martin, Iñigo Martincorena

Nature· November 2025

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A spatial transcriptomic atlas of autism-associated genes identifies convergence in the developing human thalamus.
Alexander Aivazidis, Fani Memi, Koen Rademaker, Mahmoud Koko, Kenny Roberts, Martin Prete, Hilary C Martin

bioRxiv· November 2025

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Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants.
Katie Taylor, Alicia Huerta-Chagoya, Xiaoyu Wang, Maheak Vora, Jiang Li, Hilary C Martin

medRxiv· November 2025

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Polygenic and developmental profiles of autism differ by age at diagnosis.
Xinhe Zhang, Jakob Grove, Yuanjun Gu, Cornelia K Buus, Lea K Nielsen, Hilary C Martin

Nature· October 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, Hilary C Martin

Genome Med· October 2025

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Polygenic scores for autism are associated with reduced neurite density in adults and children from the general population.
Yuanjun Gu, Eva Maria-Stauffer, Saashi A Bedford, , , Hilary Martin

Mol Psychiatry· August 2025

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Polygenic and developmental profiles of autism differ by age at diagnosis.
Xinhe Zhang, Jakob Grove, Yuanjun Gu, Cornelia K Buus, Lea K Nielsen, Hilary C Martin

medRxiv· July 2025

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Correlations Between Mammographic Breast Density and Outcomes After Neoadjuvant Chemotherapy in Patients with Locally Advanced Breast Cancer.
Veenoo Agarwal, Lisa Spalding, Hilary Martin, Ellie Darcey, Jennifer Stone

Cancers (Basel)· July 2025

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Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity.
Teng Hiang Heng, Klaudia Walter, Qin Qin Huang, Juha Karjalainen, Mark J Daly, Hilary C Martin

Am J Hum Genet· June 2025

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Socio-economic status is a social construct with heritable components and genetic consequences.
Abdel Abdellaoui, Hilary C Martin, Martin Kolk, Adam Rutherford, Michael Muthukrishna

Nat Hum Behav· May 2025

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The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra.
O Isaac Garcia-Salinas, Seongwon Hwang, Qin Qin Huang, Rashesh Sanghvi, Daniel S Malawsky, Hilary C Martin

Nat Commun· May 2025

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Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes.
Albert Henry, Xiaodong Mo, Chris Finan, Mark D Chaffin, Doug Speed, Hilary Martin

Nat Genet· April 2025

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Metastatic Lobular Breast Cancer: Outcomes of Patients Treated at a Single Tertiary Institution.
Ek Leone Oh, Elizabeth Steinepreis, Chia Len, Hilary Martin

Asia Pac J Clin Oncol· April 2025

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Contribution of autosomal rare and de novo variants to sex differences in autism.
Mahmoud Koko, F Kyle Satterstrom, , , Varun Warrier, Hilary Martin

Am J Hum Genet· March 2025

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Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores.
Timing Liu, Alagu Sankareswaran, Gordon Paterson, , Diane P Fraser, Hilary C Martin

Sci Rep· January 2025

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Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Jenny Lord, Carolina J Oquendo, Htoo A Wai, John G Holloway, Alexandra Martin-Geary, Hilary C Martin

Genet Med· December 2024

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A Dedicated Menopausal After Cancer Clinic May Improve Adherence to Endocrine Therapy For Breast Cancer: A Population Based Study.
Hilary Martin, Christobel Saunders, Andrew Redfern, Martha Hickey

Clin Breast Cancer· 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, Hilary C Martin

Nature· December 2024

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Exome sequencing of UK birth cohorts.
Mahmoud Koko, Laurie Fabian, Iaroslav Popov, Ruth Y Eberhardt, Gennadii Zakharov, Hilary C Martin

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, Hilary C Martin

Nat Genet· October 2024

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Genetic architecture of routinely acquired blood tests in a British South Asian cohort.
Benjamin M Jacobs, Daniel Stow, Sam Hodgson, Julia Zöllner, Miriam Samuel, Hilary C Martin

Nat Commun· October 2024

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The importance of family-based sampling for biobanks.
Neil M Davies, Gibran Hemani, Jenae M Neiderhiser, Hilary C Martin, Melinda C Mills

Nature· 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, Hilary C Martin

Nature· September 2024

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Polygenic scores for autism are associated with neurite density in adults and children from the general population.
Yuanjun Gu, Eva Maria-Stauffer, Saashi A Bedford, , , Hilary Martin

medRxiv· April 2024

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Contribution of autosomal rare and variants to sex differences in autism.
Mahmoud Koko, F Kyle Satterstrom, , , Varun Warrier, Hilary Martin

medRxiv· April 2024

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