Louis J. Muglia

Haplotype-based analysis distinguishes maternal-fetal genetic contribution to pregnancy-related outcomes

The paper introduces a haplotype-based method to estimate maternal and fetal genetic contributions to pregnancy outcomes, finding that gestational duration is mainly influenced by maternal haplotypes while fetal size is influenced by both maternal and paternal haplotypes.

Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism

This study identifies a genome-wide association for neonatal jaundice, revealing distinct genetic pathways compared to adult bilirubin metabolism.

A Genome Scale Transcriptional Regulatory Model of the Human Placenta

The paper constructs a genome-scale transcriptional regulatory network of the human placenta using genomic and transcriptomic data, identifying key regulators of preterm birth.

Genetic effects on the timing of parturition and links to fetal birth weight

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

Meta-analysis of gestational duration and spontaneous preterm birth identifies new maternal risk loci

This study identifies 19 genetic loci associated with gestational duration and spontaneous preterm birth, including seven novel loci, and highlights potential biological mechanisms and tissue-specific effects.

A SNP affects Wnt4 expression in endometrial stroma, with antagonistic implications for pregnancy, endometriosis and reproductive cancers

This study identifies a SNP that affects Wnt4 expression in endometrial stroma, linking it to pregnancy, endometriosis, and reproductive cancers through differential gene regulation.

Interrogating the causal effects of maternal circulating CRP on gestational duration and birth weight

This study uses Mendelian Randomization to show that higher maternal CRP levels causally reduce gestational duration and birth weight, with some effect mediated through gestational age.

NOMe-HiC: joint profiling of genetic variants, DNA methylation, chromatin accessibility, and 3D genome in the same DNA molecule

NOMe-HiC jointly profiles genetic variants, DNA methylation, chromatin accessibility, and 3D genome structure from the same DNA molecule, showing high concordance with mono-omic assays and revealing coordinated chromatin accessibility in spatially proximal regions.

Transcriptome and regulatory maps of decidua-derived stromal cells inform gene discovery in preterm birth

The paper integrates GWAS data with functional genomic annotations of decidual stromal cells to identify loci and target genes associated with gestational duration and preterm birth.

Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios.

The paper optimizes run of homozygosity (ROH) calling in parent-offspring trios to study the effect of autozygosity on delivery timing, finding three maternal loci associated with reduced time-to-spontaneous delivery.

Haplotype genetic score analysis in 10,734 mother/infant pairs reveals complex maternal and fetal genetic effects underlying the associations between maternal phenotypes, birth outcomes and adult phenotypes

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.

Detection of complex genetic architecture using two-locus population differentiation: modeling epistasis

This paper introduces a method to detect epistasis in complex traits by analyzing population differentiation at two loci, identifying novel gene interactions in pigmentation, schizophrenia, and preterm birth.

Prenatal psychosocial stress-induced behavioral and neuroendocrine abnormalities are associated with sex-specific alterations in synaptic transmission and differentially modulated by maternal environment

This study shows prenatal stress causes sex-specific behavioral and neuroendocrine issues in mice, with maternal care reversing some effects.

Unique transcriptomic landscapes identified in idiopathic spontaneous and infection related preterm births compared to normal term births

The paper identifies unique transcriptomic signatures in idiopathic spontaneous and infection-related preterm births compared to normal term births, highlighting differences in IGF signaling and inflammation.

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

This study identifies genetic effects on birth weight and their impact on cardio-metabolic traits, distinguishing fetal and maternal contributions.

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

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

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

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