Gary Michael Shaw

This study identifies de novo structural variants in individuals with orofacial clefts and finds they contribute to genetic risk, with some variants disrupting known risk genes and suggesting new candidate genes.

The paper uses single-nucleus RNA-seq and spatial transcriptomics to show how the maternal-fetal interface diverges in structure and function between the basal plate and chorionic membranes, identifying NID2 as an ancestry-associated regulator of trophoblast invasion.

The paper introduces the Intolerome Database, a curated resource of genes essential for human viability, to help prioritize genomic variants in cases of stillbirth, pregnancy loss, and neonatal death.

This study identifies persistent immune dysregulation in women with hypertensive disorders of pregnancy years after delivery, linked to increased cardiovascular disease risk.

The paper identifies genetic variants in 30 families with unexplained euploid pregnancy loss, finding monogenic causes in 25% of cases and expanding understanding of early human lethality.

The paper introduces SIMCO, a single-cell digital twin framework for evaluating PTL prevention drugs, identifying tetrahydrofolate, maprotiline, and aspirin-lansoprazole as top candidates.

The paper identifies rare variants in PRKCI as a novel cause of Van der Woude syndrome and other peridermopathy features through clinical and functional analyses.

The paper identifies protein-altering de novo variants in CP probands, finding higher enrichment in syndromic cases and distinct biological enrichments in single-cell RNA sequencing datasets.

The paper identifies sex-specific genetic risks for cleft palate through genome-wide gene-by-sex interaction analysis in a trio-based cohort.

This study creates a comprehensive single-cell atlas of the maternal-fetal interface, identifying cell-type-specific dysregulation in pregnancy complications.

This study performs trio-based GWAS to identify genetic risk factors for cleft palate subtypes, finding a genome-wide significant locus and subtype-specific associations.

The paper uses systems biology analysis of whole-genome sequences from 298 SB case-control pairs to identify key pathways and genes associated with spina bifida risk.

This study identifies changes in pregnancy-related serum biomarkers early in gestation as indicators of later preeclampsia development, validated in both human and mouse models.

The paper introduces a machine learning method that integrates immunological knowledge to improve predictive power from mass cytometry data.

The paper identifies rare coding variants in genes associated with cleft lip with or without cleft palate by sequencing 49 candidate genes in cases and controls, finding higher variant burdens in cases.