Richard H. Finnell

The paper presents a multi-omics atlas of myelomeningocele in sheep, identifying heritable genetic and epigenetic factors and shared biological pathways across tissues.

This study investigates the impact of the HNRNPH2-R114W mutation on RNA splicing in human brain organoids, identifying junction-level dysregulation and potential therapeutic targets.

This study shows maternal vitamin C deficiency in mice leads to DNA hypermethylation and congenital defects, suggesting VitC supplementation may prevent birth defects.

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

This paper shows that disrupting Fuz in mouse embryos causes hypoplastic hindbrain development and reduced cranial nerve ganglia due to defective cilia formation and impaired Sonic Hedgehog signaling.

This study identifies TET1 as a key mediator of gene-environment interactions in congenital malformations, showing how maternal folate status and genetic background influence DNA methylation and NTD susceptibility.

This study identifies a genetic and biochemical link between Fuz and Gpr161 in regulating sonic hedgehog signaling during mouse embryonic development.

This study shows that deleting Gpr161 in the Pax3 lineage in mice causes spinal and craniofacial defects due to altered Shh and Wnt signaling.

The paper investigates how reduced tissue stiffness in Mthfd1l mutant mouse embryos impairs neural tube closure and shows that formate supplementation can restore stiffness and morphology.

The paper identifies rare damaging variants in outer DNAH genes in 22.5% of severe hypospadias patients, suggesting their role in the condition and potential for genetic counseling.

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 shows that MECP2 duplication and mutations impair neural stem cell differentiation through miR-197 regulation of ADAM10 and NOTCH signaling.