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Filters: Keyword is Heart Defects, Congenital [Clear All Filters]
Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. PLoS One 15, e0234357 (2020).
X-chromosome association studies of congenital heart defects. Am J Med Genet A 182, 250-254 (2020).
The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One 13, e0191319 (2018).
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet 54, 47-53 (2017).
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 49, 1593-1601 (2017).
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circ Cardiovasc Genet 10, e001449 (2017).
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet 49, 613-617 (2017).
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med 9, 73 (2017).
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet 99, 886-893 (2016).
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet 135, 1399-1409 (2016).
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. PLoS Genet 12, e1006335 (2016).
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet 25, 2331-2341 (2016).
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med 8, 106 (2016).
Update on the Toriello-Carey syndrome. Am J Med Genet A 170, 2551-8 (2016).