POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

Authors: Smallwood, Kelly, Watt, Kristin E.N., Ide, Satoru, Baltrunaite, Kristina, Brunswick, Chad, Inskeep, Katherine, Capannari, Corrine, Adam, Margaret P., Begtrup, Amber, Bertola, Debora R., Demmer, Laurie, Demo, Erin, Devinsky, Orrin, Gallagher, Emily R., Guillen Sacoto, Maria J., Jech, Robert, Keren, Boris, Kussmann, Jennifer, Ladda, Roger, Lansdon, Lisa A., Lunke, Sebastian, Mardy, Anne, McWalters, Kirsty, Person, Richard, Raiti, Laura, Saitoh, Noriko, Saunders, Carol J., Schnur, Rhonda, Skorvanek, Matej, Sell, Susan L., Slavotinek, Anne, Sullivan, Bonnie R., Stark, Zornitza, Symonds, Joseph D., Wenger, Tara, Weber, Sacha, Whalen, Sandra, White, Susan M., Winkelmann, Juliane, Zech, Michael, Zeidler, Shimriet, Maeshima, Kazuhiro, Stottmann, Rolf W., Trainor, Paul A., Weaver, K. Nicole

Source: American journal of human genetics. 110(5):809-825

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Genetic counseling for congenital heart disease – Practice resource of the National Society of Genetic Counselors

Authors: Ison, Hannah E., Griffin, Emily L., Parrott, Ashley, Shikany, Amy R., Meyers, Lindsay, Thomas, Matthew J., Syverson, Erin, Demo, Erin M., Fitzgerald, Kristi K., Fitzgerald‐Butt, Sara, Ziegler, Katie L., Schartman, Allison F., Stone, Kristyne M., Helm, Benjamin M.

Source: Journal of genetic counseling. 31(1):9-33

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Loeys–Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype

Authors: Fry, Deanna, Groepper, Daniel, MacCarrick, Gretchen, Demo, Erin M., Thomas, Matthew J., Wilkes, Margaret J., Lyons, Michael J., Tucker, Megan E., Steding, Catherine, Fleischer, Julie

Source: American journal of medical genetics.Part A. 188(7):2237-2241

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Genetics and Precision Medicine: Heritable Thoracic Aortic Disease

Authors: Demo, Erin, Rigelsky, Christina, Rideout, Andrea L., Graf, Madeline, Pariani, Mitchel, Regalado, Ellen, MacCarrick, Gretchen

Source: In Medical Clinics of North America November 2019 103(6):1005-1019

Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain?

Authors: Moscarello, Tia, Murray, Brittney, Reuter, Chloe, Demo, Erin

Source: Genetics in medicine. 21(3):539-541

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TBX1 variant as a cause of non-syndromic familial vascular ring

Authors: Demo, Erin, Petit, Christopher J., McKenzie, Emmett Dean, Sallee, Denver, Iannucci, Glen J.

Source: Progress in pediatric cardiology. 56

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Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Authors: Demo, Erin, Frush, Donald, Gottfried, Marcia, Koepke, John, Boney, Anne, Bali, Deeksha, Chen, Y.T., Kishnani, Priya S.

Source: In Journal of Hepatology 2007 46(3):492-498

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CARDIAC MAGNETIC RESONANCE IN HYPERTROPHIC CARDIOMYOPATHY: APPLICATION TO PEDIATRIC PATIENTS

Authors: Slesnick, Tim, Parks, W. James, Fischbach, Peter, Frias, Patrick, Campbell, Robert, Demo, Erin, Sallee, Denver, Strieper, Margaret

Source: Journal of the American College of Cardiology. 59(13):E1095-E1095

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eP147 - Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.

Authors: Fry, Deanna (AUTHOR), MacCarrick, Gretchen (AUTHOR), Groepper, Daniel (AUTHOR), Demo, Erin (AUTHOR), Fleischer, Julie (AUTHOR)

Source: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS98-S98. 1p.

Subject Terms: *PHENOTYPES, *SYNDROMES, *22Q11 deletion syndrome