Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.

por Sujata Srikanth, Lavanya Jain, Cinthya Zepeda-Mendoza, Lauren Cascio, Kelly Jones, Rini Pauly, Barb DuPont, Curtis Rogers, Sara Sarasua, Katy Phelan, Cynthia Morton, Luigi Boccuto
Publicado 2021

A new test for autism spectrum disorder: Metabolic data from different cell types

por Sujata Srikanth, Lauren Cascio, Rini Pauly, Kelly Jones, Skylar Sorrow, Rossana Cubillan, Chin-Fu Chen, Cindy D. Skinner, Kevin Champaigne, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto
Publicado 2021

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

por Chong Li, Jennifer M. Brazill, Sha Liu, Christofer Bello, Yi Zhu, Marie Morimoto, Lauren Cascio, Rini Pauly, Zoraida Diaz-Perez, May Christine V. Malicdan, Hongbo Wang, Luigi Boccuto, Charles E. Schwartz, William A. Gahl, Cornelius F. Boerkoel, R. Grace Zhai
Publicado 2018

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

por Chong Li, Jennifer M. Brazill, Sha Liu, Christofer Bello, Yi Zhu, Marie Morimoto, Lauren Cascio, Rini Pauly, Zoraida Diaz-Perez, May Christine V. Malicdan, Hongbo Wang, Luigi Boccuto, Charles E. Schwartz, William A. Gahl, Cornelius F. Boerkoel, R. Grace Zhai
Publicado 2017