P522: Personalized prescriptions: Potential clinical impact of pharmacogenetic screening von Pugh, Jada, Thomas, Madison, Cochran, Meagan, East, Kelly

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Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome von Gordon, Emily R, Felker, Stephanie A, Coleman, Tanner F, Sosonkina, Nadiya, Pugh, Jada, Cochran, Meagan E, Hurst, Anna C E, Cooper, Sara J

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P149: Seeing double: A case series of patients with multiple genetic diagnoses in a small genomics clinic von Coleman, Tanner, Cochran, Meagan, Pugh, Jada, Kelly, Melissa, Hurst, Anna

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Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases von McGuire Sams, Cierla, Shepp, Kasey, Pugh, Jada, Bishop, Madison R, Merner, Nancy D

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P332: Two independent molecular diagnoses of Loeys-Dietz syndrome in a sibship and their children: A case report von Coleman, Tanner, Pugh, Jada, Gordon, Emily, Felker, Stephanie, Hurst, Anna, Sosonkina, Nadiya, Cochran, Meagan, Cooper, Sara

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Errors in genome sequencing result disclosures: A randomized controlled trial comparing neonatology non-genetics healthcare professionals and genetic counselors von Coleman, Tanner F., Pugh, Jada, Kelley, Whitley V., East, Kelly M., Greve, Veronica, Finnila, Candice R., Henson, Ava, Korf, Bruce R., Barsh, Gregory S., Cooper, Gregory M., Cochran, Meagan E.

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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling von Holtz, Alexander M., VanCoillie, Rachel, Vansickle, Elizabeth A., Carere, Deanna Alexis, Withrow, Kara, Torti, Erin, Juusola, Jane, Millan, Francisca, Person, Richard, Guillen Sacoto, Maria J., Si, Yue, Wentzensen, Ingrid M., Pugh, Jada, Vasileiou, Georgia, Rieger, Melissa, Reis, André, Argilli, Emanuela, Sherr, Elliott H., Aldinger, Kimberly A., Dobyns, William B., Brunet, Theresa, Hoefele, Julia, Wagner, Matias, Haber, Benjamin, Kotzaeridou, Urania, Keren, Boris, Heron, Delphine, Mignot, Cyril, Heide, Solveig, Courtin, Thomas, Buratti, Julien, Murugasen, Serini, Donald, Kirsten A., O’Heir, Emily, Moody, Shade, Kim, Katherine H., Burton, Barbara K., Yoon, Grace, Campo, Miguel del, Masser-Frye, Diane, Kozenko, Mariya, Parkinson, Christina, Sell, Susan L., Gordon, Patricia L., Prokop, Jeremy W., Karaa, Amel, Bupp, Caleb, Raby, Benjamin A.

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Data for: Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases von Merner, Nancy, McGuire Sams, Cierla, Shepp, Kasey, Pugh, Jada, Bishop, Madison

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