期刊： EUROPEAN JOURNAL OF HUMAN GENETICS, 2023; 31 (5)
Microphthalmia, Anophthalmia and Coloboma (MAC) form a spectrum of congenital eye malformations responsible for severe visual impairment. Despite the ......
期刊： EUROPEAN JOURNAL OF HUMAN GENETICS, 2023; 31 (2)
NHS genetics centres in Scotland sought to investigate the Genomics England 100,000 Genomes Project diagnostic utility to evaluate genome sequencing f......
期刊： EUROPEAN JOURNAL OF HUMAN GENETICS, 2023; 31 (5)
Pathogenic variants in TGFBR1 are a common cause of Loeys-Dietz syndrome (LDS) characterized by life-threatening aortic and arterial disease. Generall......
期刊： EUROPEAN JOURNAL OF HUMAN GENETICS, 2023; ()
Autism spectrum disorder (ASD) is caused by combined genetic and environmental factors. Genetic heritability in ASD is estimated as 60-90%, and geneti......
