Echocardiographic Manifestations of Glycogen Storage Disease III: Increase in Wall Thickness and Left Ventricular Mass over Time

Por Vertilus, Shawyntee M., Austin, Stephanie L., Foster, Kimberly S., Boyette, Keri E., Bali, Deeksha, Li, Jennifer S., Kishnani, Priya S., Wechsler, Stephanie Burns
Publicado em 2010

Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features

Por Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L.I., Terhal, P.A., Verhoeven, Virginie J.M., van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., Chung, Wendy K.
Publicado no Neurogenetics (2016)

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

Por Lacro, Ronald V., Guey, Lin T., Dietz, Harry C., Pearson, Gail D., Yetman, Anji T., Gelb, Bruce D., Loeys, Bart L., Benson, D. Woodrow, Bradley, Timothy J., De Backer, Julie, Forbus, Geoffrey A., Klein, Gloria L., Lai, Wyman W., Levine, Jami C., Lewin, Mark B., Markham, Larry W., Paridon, Stephen M., Pierpont, Mary Ella, Radojewski, Elizabeth, Selamet Tierney, Elif Seda, Sharkey, Angela M., Wechsler, Stephanie Burns, Mahony, Lynn
Publicado em 2013

Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome

Por Lacro, R.V., Dietz, H.C., Sleeper, L.A., Yetman, A.T., Bradley, T.J., Colan, S.D., Pearson, G.D., Tierney, E.S. Selamet, Levine, J.C., Atz, A.M., Benson, D.W., Braverman, A.C., Chen, S., De Backer, J., Gelb, B.D., Grossfeld, P.D., Klein, G.L., Lai, W.W., Liou, A., Loeys, B.L., Markham, L.W., Olson, A.K., Paridon, S.M., Pemberton, V.L., Pierpont, M.E., Pyeritz, R.E., Radojewski, E., Roman, M.J., Sharkey, A.M., Stylianou, M.P., Wechsler, S. Burns, Young, L.T., Mahony, L.
Publicado no N Engl J Med (2014)

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Por Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R., Stray-Pedersen, Asbjorg, Busk, Oyvind L., Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D., Scaglia, Fernando, Rosenfeld, Jill A., Tarpinian, Jennifer, Skraban, Cara M., Deardorff, Matthew A., Friedman, Jeremy N., Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A., Kranz, Peter G., Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Goldstein, David B., Xiao, Rui, Yang, Yaping, Posey, Jennifer E., Martinez-Agosto, Julian A., Lupski, James R., Wangler, Michael F., Shashi, Vandana
Publicado no Am J Hum Genet (2017)