Genomic frontiers in congenital heart disease

SU Morton, D Quiat, JG Seidman… - Nature Reviews …, 2022 - nature.com
The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …

Genetics and genomics of congenital heart disease

S Zaidi, M Brueckner - Circulation research, 2017 - ahajournals.org
Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

HJ Cordell, Y Han, GF Mells, Y Li… - Nature …, 2015 - nature.com
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective
immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data …

[HTML][HTML] Molecular genetics and complex inheritance of congenital heart disease

NS Diab, S Barish, W Dong, S Zhao, G Allington, X Yu… - Genes, 2021 - mdpi.com
Congenital heart disease (CHD) is the most common congenital malformation and the
leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD …

Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot

DJ Page, MJ Miossec, SG Williams… - Circulation …, 2019 - ahajournals.org
Rationale: Familial recurrence studies provide strong evidence for a genetic component to
the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common …

[책][B] Veterinary embryology

TA McGeady, PJ Quinn, ES Fitzpatrick, MT Ryan… - 2017 - books.google.com
Veterinary Embryology, 2nd Edition, has been updated to reflect the many changes that
have developed in the field; the text has been fully revised and expanded and is now in full …

Advances in the genetics of congenital heart disease: a clinician's guide

GM Blue, EP Kirk, E Giannoulatou, GF Sholler… - Journal of the American …, 2017 - jacc.org
Our understanding of the genetics of congenital heart disease (CHD) is rapidly expanding;
however, many questions, particularly those relating to sporadic forms of disease, remain …

Complex genetics and the etiology of human congenital heart disease

BD Gelb, WK Chung - Cold Spring …, 2014 - perspectivesinmedicine.cshlp.org
Congenital heart disease (CHD) is the most common birth defect. Despite considerable
advances in care, CHD remains a major contributor to newborn mortality and is associated …

Congenital heart disease risk loci identified by genome-wide association study in European patients

H Lahm, M Jia, M Dreßen, F Wirth, N Puluca… - The Journal of clinical …, 2021 - jci.org
Genetic factors undoubtedly affect the development of congenital heart disease (CHD) but
still remain ill defined. We sought to identify genetic risk factors associated with CHD and to …

Of mice and men: molecular genetics of congenital heart disease

TA Andersen, KLL Troelsen, LA Larsen - Cellular and molecular life …, 2014 - Springer
Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …