Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

por Matsunami, Nori, Hadley, Dexter, Hensel, Charles H., Christensen, G. Bryce, Kim, Cecilia, Frackelton, Edward, Thomas, Kelly, da Silva, Renata Pellegrino, Stevens, Jeff, Baird, Lisa, Otterud, Brith, Ho, Karen, Varvil, Tena, Leppert, Tami, Lambert, Christophe G., Leppert, Mark, Hakonarson, Hakon
Publicado 2013

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

por Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso
Publicado 2015-01-01

Genetic risk for Alzheimer’s disease and functional brain connectivity in children and adolescents

por Axelrud, Luiza Kvitko, Sato, João Ricardo, Santoro, Marcos Leite, Talarico, Fernanda, Pine, Daniel Samuel, Rohde, Luis Augusto, Zugman, Andre, Junior, Edson Amaro, Bressan, Rodrigo Affonseca, Grassi-Oliveira, Rodrigo, Pan, Pedro Mario, Hoffmann, Maurício Scopel, Simioni, Andre Rafael, Guinjoan, Salvador Martin, Hakonarson, Hakon, Brietzke, Elisa, Gadelha, Ary, da Silva, Renata Pellegrino, Hoexter, Marcelo Queiroz, Miguel, Euripedes Constantino, Belangero, Sintia Iole, Salum, Giovanni Abrahão
Publicado en Neurobiol Aging (2019)