Hilary C Martin
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Explore the profile of Hilary C Martin including associated specialties, affiliations and a list of published articles.
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54
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3071
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Recent Articles
1.
Koko M, Fabian L, Popov I, Eberhardt R, Zakharov G, Huang Q, et al.
Wellcome Open Res
. 2025 Jan;
9:390.
PMID: 39839975
Birth cohort studies involve repeated surveys of large numbers of individuals from birth and throughout their lives. They collect information useful for a wide range of life course research domains,...
2.
Liu T, Sankareswaran A, Paterson G, Fraser D, Hodgson S, Huang Q, et al.
Sci Rep
. 2025 Jan;
15(1):1168.
PMID: 39805939
Correct classification of type 1 (T1D) and type 2 diabetes (T2D) is challenging due to overlapping clinical features and the increasingly early onset of T2D, particularly in South Asians. Polygenic...
3.
Huang Q, Wigdor E, Malawsky D, Campbell P, Samocha K, Chundru V, et al.
Nature
. 2024 Nov;
636(8042):404-411.
PMID: 39567701
Although rare neurodevelopmental conditions have a large Mendelian component, common genetic variants also contribute to risk. However, little is known about how this polygenic risk is distributed among patients with...
4.
Davies N, Hemani G, Neiderhiser J, Martin H, Mills M, Visscher P, et al.
Nature
. 2024 Oct;
634(8035):795-803.
PMID: 39443775
Biobanks aim to improve our understanding of health and disease by collecting and analysing diverse biological and phenotypic information in large samples. So far, biobanks have largely pursued a population-based...
5.
Jacobs B, Stow D, Hodgson S, Zollner J, Samuel M, Kanoni S, et al.
Nat Commun
. 2024 Oct;
15(1):8929.
PMID: 39414775
Understanding the genetic basis of routinely-acquired blood tests can provide insights into several aspects of human physiology. We report a genome-wide association study of 42 quantitative blood test traits defined...
6.
Chundru V, Zhang Z, Walter K, Lindsay S, Danecek P, Eberhardt R, et al.
Nat Genet
. 2024 Sep;
56(10):2046-2053.
PMID: 39313616
Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of...
7.
Stankovic S, Shekari S, Huang Q, Gardner E, Ivarsdottir E, Owens N, et al.
Nature
. 2024 Sep;
633(8030):608-614.
PMID: 39261734
Human genetic studies of common variants have provided substantial insight into the biological mechanisms that govern ovarian ageing. Here we report analyses of rare protein-coding variants in 106,973 women from...
8.
Lord J, Oquendo C, Wai H, Holloway J, Martin-Geary A, Blakes A, et al.
Genet Med
. 2024 Sep;
26(12):101249.
PMID: 39243181
Purpose: Identifying pathogenic noncoding variants is challenging. A single protein-altering variant is often identified in a recessive gene in individuals with developmental disorders (DD), but the prevalence of pathogenic noncoding...
9.
Zhang X, Grove J, Gu Y, Buus C, Nielsen L, Neufeld S, et al.
medRxiv
. 2024 Aug;
PMID: 39132493
There is growing recognition that earliest signs of autism need not clearly manifest in the first three years of life. To what extent is this variation in developmental trajectories associated...
10.
Wigdor E, Samocha K, Eberhardt R, Chundru V, Firth H, Wright C, et al.
Sci Rep
. 2024 Apr;
14(1):8708.
PMID: 38622173
Recent work has revealed an important role for rare, incompletely penetrant inherited coding variants in neurodevelopmental disorders (NDDs). Additionally, we have previously shown that common variants contribute to risk for...