Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico

Por Ramos, Edwardo, Conde, José G., Berrios, Rafael Arias, Pardo, Sherly, Gómez, Omar, Mas Rodríguez, Manuel F.
Publicado no J Neuromuscul Dis (2016)

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines

Por Cruz-Correa, Marcia, Pérez-Mayoral, Julyann, Dutil, Julie, Echenique, Miguel, Mosquera, Rafael, Rivera-Román, Keila, Umpierre, Sharee, Rodriguez-Quilichini, Segundo, Gonzalez-Pons, Maria, Olivera, Myrta I., Pardo, Sherly
Publicado no Hered Cancer Clin Pract (2017)

Clinical Cancer Genetics Disparities among Latinos

Por Cruz-Correa, Marcia, Pérez-Mayoral, Julyann, Dutil, Julie, Echenique, Miguel, Mosquera, Rafael, Rivera-Román, Keila, Umpierre, Sharee, Rodriguez-Quilichini, Segundo, Gonzalez-Pons, Maria, Olivera, Myrta I., Pardo, Sherly
Publicado no J Genet Couns (2016)

Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch Syndrome

Por Cruz-Correa, Marcia, Diaz-Algorri, Yaritza, Pérez-Mayoral, Julyann, Suleiman-Suleiman, Wasilah, Gonzalez-Pons, Maria del Mar, Bertrán, Carlos, Casellas, Nicolás, Rodríguez, Natalia, Pardo, Sherly, Rivera, Keyla, Mosquera, Rafael, Rodriguez-Quilichini, Segundo
Publicado no Fam Cancer (2015)

An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

Por Edelmann, Lisa, Prosnitz, Aaron, Pardo, Sherly, Bhatt, Jahnavi, Cohen, Ninette, Lauriat, Tara, Ouchanov, Leonid, González, Patricia J, Manghi, Elina R, Bondy, Pamela, Esquivel, Marcela, Monge, Silvia, Delgado, Marietha F, Splendore, Alessandra, Francke, Uta, Burton, Barbara K, McInnes, L Alison
Publicado em 2007

Patient-specific induced pluripotent stem cell derived models of LEOPARD syndrome

Por Carvajal-Vergara, Xonia, Sevilla, Ana, D’Souza, Sunita L., Ang, Yen-Sin, Schaniel, Christoph, Lee, Dung-Fang, Yang, Lei, Kaplan, Aaron D., Adler, Eric D., Rozov, Roye, Ge, YongChao, Cohen, Ninette, Edelmann, Lisa J., Chang, Betty, Waghray, Avinash, Su, Jie, Pardo, Sherly, Lichtenbelt, Klaske D., Tartaglia, Marco, Gelb, Bruce, Lemischka, Ihor R.
Publicado em 2010

RAF1 mutations in childhood-onset dilated cardiomyopathy

Por Dhandapany, Perundurai S., Razzaque, Md. Abdur, Muthusami, Uthiralingam, Kunnoth, Sreejith, Edwards, Jonathan J., Mulero-Navarro, Sonia, Riess, Ilan, Pardo, Sherly, Sheng, Jipo, Rani, Deepa Selvi, Rani, Bindhu, Govindaraj, Periyasamy, Flex, Elisabetta, Yokota, Tomohiro, Furutani, Michiko, Nishizawa, Tsutomu, Nakanishi, Toshio, Robbins, Jeffrey, Limongelli, Giuseppe, Hajjar, Roger J., Lebeche, Djamel, Bahl, Ajay, Khullar, Madhu, Rathinavel, Andiappan, Sadler, Kirsten C., Tartaglia, Marco, Matsuoka, Rumiko, Thangaraj, Kumarasamy, Gelb, Bruce D.
Publicado em 2014

Myeloid dysregulation in a human induced pluripotent stem cell model of PTPN11-associated juvenile myelomonocytic leukemia

Por Mulero-Navarro, Sonia, Sevilla, Ana, Roman, Angel C., Lee, Dung-Fang, D’Souza, Sunita L., Pardo, Sherly, Riess, Ilan, Su, Jie, Cohen, Ninette, Schaniel, Christoph, Rodriguez, Nelson A., Baccarini, Alessia, Brown, Brian D., Cavé, Hélène, Caye, Aurélie, Strullu, Marion, Yalcin, Safak, Park, Christopher Y., Dhandapany, Perundurai S., Yongchao, Ge, Edelmann, Lisa, Bahieg, Sawsan, Raynal, Patrick, Flex, Elisabetta, Tartaglia, Marco, Moore, Kateri A., Lemischka, Ihor R., Gelb, Bruce D.
Publicado no Cell Rep (2015)