Lars Allan Larsen

The paper identifies a KIAA0586 c.1815G>A founder allele associated with short-rib polydactyly syndrome type IV in Romani families and reports its higher frequency in Hungarian Romani individuals.

The paper identifies TAK1's role in heart development through genetic analysis and shows its activation at the primary cilium via TGFB/BMP signaling.

This study identifies rare variants and digenic interactions associated with congenital heart disease using a large-scale exome case-control analysis.

The paper reports molecular genetic diagnoses for 28 consanguineous OCA families and identifies a pathogenic deep intron variant in TYR that causes OCA through pseudoexon inclusion.

The paper identifies rare homozygous variants in cilia genes associated with congenital heart defects in consanguineous Pakistani patients.

This study investigates genetic variants in hydrocephalus patients and finds associations with ciliopathies and autism spectrum disorder using the iPSYCH cohort.

The paper identifies a loss-of-function GFAP variant causing retinal dysplasia and vision impairment in a family, revealing a novel role for GFAP in eye development.

The paper identifies calcium signalling defects as a novel cause of congenital heart disease through whole exome sequencing and functional validation in zebrafish.

This study identifies a mutation in RRP7A linked to primary microcephaly, showing its role in neurogenesis, ribosomal biogenesis, and ciliary resorption in neural stem cells.