Rachel M. Freathy

The paper conducts a multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycemic traits, identifying novel loci and highlighting limited pregnancy-specific genetic effects.

The paper tests associations between maternal KIR haplotypes and fetal HLA-C alleles with birth weight in a large sample, finding no significant interactions or replication of previous findings.

This study examines how genetic variants linked to gestational diabetes affect maternal glucose levels during and after pregnancy, finding consistent associations with fasting glucose but varying effects on postprandial glucose.

The paper identifies rare genetic variants associated with birth weight, highlighting genes involved in adipose tissue regulation, placental function, and insulin-like growth factor signaling.

DINGO improves locus discovery in GWAS of perinatal traits by combining maternal and fetal GWAS data through meta-analysis and novel statistical tests, identifying more genetic loci than separate analyses.

The paper introduces two new methods to estimate genetically driven effect heterogeneity and causal effects in Mendelian Randomization using the TWIST framework and applies them to study smoking during pregnancy on offspring birth weight.

This paper uses Mendelian randomization to estimate the causal effect of smoking during pregnancy on placental weight, finding that continued smoking increases placental weight.

This study identifies 40 genetic loci associated with placental weight using GWAS in 179,025 children and parents, revealing shared and distinct genetic influences with fetal growth.

This study identifies genetic loci associated with gestational duration and preterm delivery, showing maternal and fetal genetic effects and antagonistic pleiotropy with birth weight.

This paper uses Mendelian randomization to investigate the causal relationship between maternal serum urate and offspring birthweight, finding a weaker causal effect compared to observational studies.

This paper shows genetic scores explain additional variance in birthweight beyond clinical variables, with maternal and fetal genetic scores adding 6.0% variance when combined.

This study examines genetic scores for birth weight in South Asians, finding associations with birth size, childhood body size, and adult cardiometabolic markers.

The paper examines the effect of fetal genetic predispositions to metabolically favourable adult adiposity and BMI on birth weight and other anthropometric traits, finding stronger associations with birth weight for the adiposity alleles.

This study uses Mendelian Randomisation to show that maternal metabolically favourable adiposity is associated with lower offspring birth weight compared to general adiposity indexed by BMI.

The paper identifies common genetic variants affecting fetal birth weight that are near genes causing rare developmental disorders, using GWAS data and simulations.

This study uses Mendelian Randomization to assess the causal effect of maternal vitamin B12 and folate on offspring birthweight, finding a positive causal effect for folate but not for B12.

The paper uses haplotype genetic scores in mother/infant pairs to show maternal and fetal genetic effects influence gestational duration, birth outcomes, and adult phenotypes.

The paper examines how different glucose thresholds for gestational diabetes identify women with higher genetic risk for type 2 diabetes using genetic scores.

This study identifies a fetal genome-wide association signal near pro-inflammatory cytokine genes on 2q13 linked to gestational duration and preterm/postterm birth.

This study identifies 47 genetic associations with sleep traits using accelerometer data from 85,670 individuals, including novel variants for sleep quality and duration.

This study identifies 351 new genetic loci associated with chronotype using data from 697,828 individuals and links them to circadian biology and disease.

This study examines X chromosome aneuploidy in an adult population, finding reduced phenotypic penetrance in mosaic 45,X/46,XX cases compared to clinically ascertained cases.

This paper uses structural equation modeling to estimate maternal and fetal effects on birthweight using UK Biobank data, identifying SNPs with opposing effects.

This study identifies maternal genetic variants associated with offspring birth weight using GWAS and SEM, showing independent effects from fetal genetics.

A common FGF21 allele is associated with lower body fat in the lower body, higher blood pressure, and increased carbohydrate intake in a large human cohort.

This study investigates the genetic contributions to gestational weight gain, finding that maternal common variants explain about 20% of variability, while fetal variants have a minor role.

This study identifies genetic loci associated with early childhood growth phenotypes and links them to later adiposity traits, suggesting potential targets for obesity prevention.