The genetics and typical traits of thoracic aortic aneurysm and dissection
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Annual review of genomics and human genetics - ISSN 1527-8204-23 (2022) p. 223-253
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
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Human mutation - ISSN 1059-7794-43:12 (2022) p. 1824-1828
Two novel presentations of KCNMA1-related pathology : expanding the clinical phenotype of a rare channelopathy
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Molecular genetics & genomic medicine - ISSN 2324-9269-9:10 (2021) p.
A human importin-β-related disorder : syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
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The American journal of human genetics - ISSN 0002-9297-108:6 (2021) p. 1115-1125
The role of genetics in risk stratification of thoracic aortic aneurysm dissection
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Hearts - ISSN 2673-3846-1:2 (2020) p. 50-61