Isolated Congenital Anosmia and CNGA2 Mutation

por M. Reza Sailani, Inlora Jingga, Seyed Hashem MirMazlomi, Fatemeh Bitarafan, Jonathan A. Bernstein, Michael P. Snyder, Masoud Garshasbi
Publicado 2017

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.

por Aaron D Besterman, Thorsten Althoff, Peter Elfferich, Irma Gutierrez-Mejia, Joshua Sadik, Jonathan A Bernstein, Yvette van Ierland, Anja A Kattentidt-Mouravieva, Mark Nellist, Jeff Abramson, Julian A Martinez-Agosto
Publicado 2021

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

por Siddharth Srivastava, Emma Condy, Erin Carmody, Rajna Filip-Dhima, Kush Kapur, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, on behalf of Developmental Synaptopathies Consortium
Publicado 2021