Grange syndrome due to homozygous YY1AP1 missense rare variants von Ciuffetelli Alamo, Isabella V., Kwartler, Callie S., Regalado, Ellen R., Afifi, Rana O., Parkash, Sandhya, Rideout, Andrea, Guo, Dong‐chuan, Milewicz, Dianna M.

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Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections von Guo, Dong-chuan, Grove, Megan L., Prakash, Siddharth K., Eriksson, Per, Hostetler, Ellen M., LeMaire, Scott A., Body, Simon C., Shalhub, Sherene, Estrera, Anthony L., Safi, Hazim J., Regalado, Ellen S., Zhou, Wei, Mathis, Michael R., Eagle, Kim A., Yang, Bo, Willer, Cristen J., Boerwinkle, Eric, Milewicz, Dianna M.

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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome von Boileau, Catherine, Guo, Dong-Chuan, Hanna, Nadine, Regalado, Ellen S, Detaint, Delphine, Gong, Limin, Varret, Mathilde, Prakash, Siddharth K, Li, Alexander H, d'Indy, Hyacintha, Braverman, Alan C, Grandchamp, Bernard, Kwartler, Callie S, Gouya, Laurent, Santos-Cortez, Regie Lyn P, Abifadel, Marianne, Leal, Suzanne M, Muti, Christine, Shendure, Jay, Gross, Marie-Sylvie, Rieder, Mark J, Vahanian, Alec, Nickerson, Deborah A, Michel, Jean Baptiste, Jondeau, Guillaume, Milewicz, Dianna M

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Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections von Regalado, E.S., Guo, D.C., Santos-Cortez, R.L.P., Hostetler, E., Bensend, T.A., Pannu, H., Estrera, A., Safi, H., Mitchell, A.L., Evans, J.P., Leal, S.M., Bamshad, M., Shendure, J., Nickerson, D.A., Milewicz, D.M.

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De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction von Milewicz, Dianna M., Østergaard, John R., Ala-Kokko, Leena M., Khan, Nadia, Grange, Dorothy K., Mendoza-Londono, Roberto, Bradley, Timothy J., Olney, Ann Haskins, Adès, Lesley, Maher, Joseph F., Guo, Dongchuan, Buja, L. Maximilian, Kim, Dong, Hyland, James C., Regalado, Ellen S.

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The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy von Pinard, Amélie, Guey, Stéphanie, Guo, Dongchuan, Cecchi, Alana C., Kharas, Natasha, Wallace, Stephanie, Regalado, Ellen S., Hostetler, Ellen M., Sharrief, Anjail Z., Bergametti, Françoise, Kossorotoff, Manoelle, Hervé, Dominique, Kraemer, Markus, Bamshad, Michael J., Nickerson, Deborah A., Smith, Edward R., Tournier-Lasserve, Elisabeth, Milewicz, Dianna M.

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Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension von Wallace, S., Guo, D.-C., Regalado, E., Mellor-Crummey, L., Bamshad, M., Nickerson, D.A., Dauser, R., Hanchard, N., Marom, R., Martin, E., Berka, V., Sharina, I., Ganesan, V., Saunders, D., Morris, S.A., Milewicz, D.M.

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A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations von MUNOT, Pinki, SAUNDERS, Dawn E, JACQUES, Thomas S, COX, Timothy C, GANESAN, Vijeya, MILEWICZ, Dianna M, REGALADO, Ellen S, OSTERGAARD, John R, BRAUN, Kees P, KERR, Timothy, LICHTENBELT, Klaske D, PHILIP, Sunny, RITTEY, Christopher

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Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections von Guo, Dong-chuan, Regalado, Ellen, Casteel, Darren E., Santos-Cortez, Regie L., Gong, Limin, Kim, Jeong Joo, Dyack, Sarah, Horne, S. Gabrielle, Chang, Guijuan, Jondeau, Guillaume, Boileau, Catherine, Coselli, Joseph S., Li, Zhenyu, Leal, Suzanne M., Shendure, Jay, Rieder, Mark J., Bamshad, Michael J., Nickerson, Deborah A., Kim, Choel, Milewicz, Dianna M.

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Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations von Regalado, Ellen S, Mellor-Crummey, Lauren, De Backer, Julie, Braverman, Alan C, Ades, Lesley, Benedict, Susan, Bradley, Timothy J, Brickner, M Elizabeth, Chatfield, Kathryn C, Child, Anne, Feist, Cori, Holmes, Kathryn W, Iannucci, Glen, Lorenz, Birgit, Mark, Paul, Morisaki, Takayuki, Morisaki, Hiroko, Morris, Shaine A, Mitchell, Anna L, Ostergaard, John R, Richer, Julie, Sallee, Denver, Shalhub, Sherene, Tekin, Mustafa, Estrera, Anthony, Musolino, Patricia, Yetman, Anji, Pyeritz, Reed, Milewicz, Dianna M

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Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease von Tumulak, Ma-Am Joy R., Padilla, Carmencita D., Ongchangco, Jose Carlo E., Laurino, Mercy Y., Lagarde, John Benedict B., Regalado, Ellen S., Legaspi, Augusto V., Ventura, Elizabeth R.

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Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome von Moller, Hans Ulrik, Fledelius, Hans C, Milewicz, Dianna M, Regalado, Ellen S, Ostergaard, John R

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Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium von Asokan, Kishan L, Landes, Jennifer R, Renders, Wannes, Muiño Mosquera, Laura, De Backer, Julie, Jantzen, David W, Yetman, Anji T, Teixido-Tura, Gisela, Evangelista, Arturo, Jeremy, Richmond, Jones, Edward G, Morris, Shaine, Doan, Tam, Ouzonian, Maral, Braverman, Alan, Jondeau, Guillaume, Milleron, Olivier, Milewicz, Dianna M, Prakash, Siddharth K

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Filipino Midwives’ Knowledge, Self-perceived Role and Experiences in Educating Parents of Families with Newborns who are Confirmed Cases of Glucose 6 Phosphate Dehydrogenase Defici... von Guerbo, Romer J., Padilla, Carmencita D., Laurino, Mercy Y., Regalado, Ellen S., Silao, Catherine Lynn T., Gregorio, Jr, Ernesto R.

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Abstract 3828: Cerebrovascular Disease And Risk Of Stroke In Patients With ACTA2 R179H And R179L Mutations von Regalado, Ellen, Ostergaard, John R, Ganesan, Vijeya, Guo, Dong-chuan, Milewicz, Dianna M

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Eye features in 3 Danish patients with Multi Systemic Smooth Muscle Dysfunction Syndrome von Moller, H.U., Fledelius, Hans C., Milemicz, Dianna M., Regalado, Ellen S., Ostergaard, John R.

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