Hemizygous SMARCA1 variants cause X-linked intellectual disability
Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. X-Linked intellectual disability update 2022. Am…
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations
Here, we report variants affecting GJA8 in 22 individuals from 15 new families, including 11 missense variants predicted…
Spatial transcriptomics identifies molecular niche dysregulation associated with distal lung remodeling in pulmonary fibrosis
Participants and samples The studies described here comply with ethical regulations as approved under local institutional review boards,…
Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level
Amer S, Hajira A. A comprehensive review of progressive familial intrahepatic cholestasis (PFIC): genetic disorders of hepatocanalicular transporters.…
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome
Glass I, Swindlehurst C, Aitken D, McCrea W, Boyd E. Interstitial deletion of the long arm of chromosome…