Article
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.
Human molecular genetics - 13 Mar 2020
Chapman Gavin, Moreau Julie L M, I P Eddie, Szot Justin O, Iyer Kavitha R, Shi Hongjun, Yam Michelle X, O'Reilly Victoria C, Enriquez Annabelle, Greasby Joelene A, Alankarage Dimuthu, Martin Ella M M A, Hanna Bernadette C, Edwards Matthew, Monger Steven, Blue Gillian M, Winlaw David S, Ritchie Helen E, Grieve Stuart M, Giannoulatou Eleni, Sparrow Duncan B, Dunwoodie Sally L
Abstract excerpt
Congenital heart disease (CHD) is the most common birth defect and brings with it significant mortality and morbidity. The application of exome and genome sequencing has greatly improved the rate of genetic diagnosis for CHD but the cause in the majority of cases remains uncertain. It is clear that genetics, as well as environmental influences, play roles in the aetiology of CHD. Here we address both these...
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