Hilary C. Martin

Incompletely penetrant protein-truncating variants confer developmental disorder risk through partial reductions in gene expression

The paper shows inherited protein-truncating variants contribute to developmental disorders through partial gene expression loss, affecting ~20% of children with such variants.

Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants

The paper imputes fluid intelligence scores in a large cohort, reducing ascertainment bias and increasing power to detect genetic associations with common and rare variants.

The Contribution of Common and Rare Genetic Variation to Emotional and Behavioural Symptoms in Childhood and Adolescence

This study examines the genetic contributions to emotional and behavioural symptoms in childhood and adolescence using common and rare variants from two large cohorts.

Phantom genetic nurture: assortative mating accounts for most of the apparent association between parental genotypes and childhood cognitive performance

The paper introduces RAVEL, a framework to estimate genetic nurture effects by distinguishing direct and non-transmitted genetic associations in parent-offspring trios, finding assortative mating explains most apparent parental genetic influence on child cognition.

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

A Genes & Health pilot recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease

This pilot study identifies British South Asians at high risk of cholestatic liver disease through genetic and phenotypic recall, finding 66.7% of participants had undetected liver disease.

Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants

This paper improves type 2 diabetes polygenic risk scores by including rare and population-specific variants, showing better risk prediction in diverse populations.

A spatial transcriptomic atlas of autism-associated genes identifies convergence in the developing human thalamus

The paper presents a spatial transcriptomic atlas of autism-associated genes in the developing human brain, identifying convergence in the thalamus and germinal zones.

Investigating the Interplay Between Prematurity and Genetic Variation in the Context of Rare Developmental Disorders

The paper examines how prematurity interacts with genetic variation in rare developmental disorders, finding independent and additive effects on phenotypic severity and identifying genetic contributions to preterm birth risk.

Landscape of parental postzygotic mutations in >11,000 rare disease trios

The paper identifies 1,015 high-confidence postzygotic mutations in 12,015 parent-offspring trios, showing they contribute to clinical phenotypes and can be detected from standard sequencing data.

Proteomic and clinical impact of human knockouts in British South Asians

This study examines the proteomic and clinical impact of human knockouts in British South Asians, identifying significant protein under- and over-expression and developing a machine learning model to predict variant benignity.

Cell-type-specific DNA methylation dynamics in the prenatal and postnatal human cortex

This study identifies cell-type-specific DNA methylation dynamics in the human cortex across development, highlighting prenatal periods as critical for epigenomic plasticity and linking changes to neurodevelopmental disorders.

An ancestry-enriched HNF4A variant and GP2 reveal distinct mechanisms of type 2 diabetes in exome-wide study of 13,674 cases and 41,024 controls

The paper identifies ancestry-specific T2D risk variants in South Asian populations through exome-wide association study and functional validation.

Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity

The paper identifies 185 genome-wide significant loci associated with common diseases in a cohort of British Pakistanis and Bangladeshis with high autozygosity, focusing on recessive genetic effects.

Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores

This study estimates that ~6% of insulin-treated diabetic individuals with ambiguous features in British Pakistanis and Bangladeshis have T1D, highlighting the need for autoantibody and C-peptide testing.

Somatic mutation and selection at epidemiological scale

The paper introduces a high-accuracy sequencing method to detect somatic mutations in tissues, revealing extensive selection and driver mutations in oral epithelium and blood samples.

Sex Differences in Human Brain Structure at Birth

The paper examines sex differences in brain structure at birth in newborns, finding larger brain volumes in males and specific regional differences in gray and white matter volumes between sexes.

The differential effects of common and rare genetic variants on cognitive performance across development

The paper examines how common and rare genetic variants affect cognitive performance across childhood and adolescence, finding age-related changes in their effects and differences in their impact across the phenotype distribution.

Substantial role of rare inherited variation in individuals with developmental disorders

The paper investigates the role of rare inherited coding variants in developmental disorders by analyzing family and case/control data, finding significant burdens of damaging variants and estimating their population attributable risk.

The impact of ancestral, environmental and genetic influences on germline de novo mutation rates and spectra

This study examines how ancestry and environmental factors influence de novo mutation rates and spectra in a large whole-genome sequenced cohort, finding ancestry-related effects and a link between tobacco smoke exposure and increased mutation rates.

Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases

Cross-trait Elastic Net mixing of PGS Catalog scores (PRSmix+) lifted mean PRS accuracy 1.72-fold in Europeans and 1.42-fold in South Asians over the best single score.

Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions

This study investigates how common genetic variants contribute to risk for rare neurodevelopmental conditions and examines indirect genetic effects through parental non-transmitted alleles.

Influence of autozygosity on common disease risk across the phenotypic spectrum

The paper investigates the association between autozygosity and common diseases in multiple cohorts, finding significant links to twelve diseases and estimating autozygosity's contribution to type 2 diabetes cases.

Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations

The paper quantifies the contribution of recessive coding variants to developmental disorders in diverse populations, identifying novel genes and highlighting challenges in interpreting missense variants.

Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants

The paper identifies non-coding variants in trans with coding variants in patients with developmental disorders, finding them to be a rare cause of recessive disorders.

PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry

The paper identifies PIK3R3 as a candidate regulator of platelet count in Bangladeshi ancestry individuals through GWAS and functional analysis.

Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

The paper investigates whether common cis-regulatory variants modify the penetrance of rare damaging coding variants in neurodevelopmental disorders using transcriptome-wide association and cis-eQTL analysis.

Implicating genes, pleiotropy and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

The genetics of cortical organisation and development: a study of 2,347 neuroimaging phenotypes

GWAS of 2,347 neuroimaging phenotypes identifies genetic loci and structures related to cortical development, cellular processes, and neurodevelopmental disorders.