Associated Papers
The frequency and efficacy of genetic testing in individuals with scimitar syndrome.
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Cardiology in the Young, 2022
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
Scott TM et al.
Journal of Medical Genetics, 2022
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
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