ERIC BOERWINKLE to Heart Defects, Congenital
This is a "connection" page, showing publications ERIC BOERWINKLE has written about Heart Defects, Congenital.
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Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach. Am J Hum Genet. 2025 07 03; 112(7):1664-1680.
Score: 0.097
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 04 03; 16(1):53.
Score: 0.089
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Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 04; 27(4):563-573.
Score: 0.062
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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med. 2017 10 31; 9(1):95.
Score: 0.057
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
Score: 0.053