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  1. Article

    Open Access

    Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort

    Thoracic insufficiency syndromes are a genetically and phenotypically heterogeneous group of disorders characterized by congenital abnormalities or progressive deformation of the chest wall and/or vertebrae th...

    Alanna Strong, Meckenzie Behr, Carina Lott, Abigail J. Clark… in Scientific Reports (2023)

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  2. No Access

    Article

    How neonatologists use genetic testing: findings from a national survey

    Katharine Press Callahan, John Flibotte, Cara Skraban… in Journal of Perinatology (2022)