Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

by Zanardo,Évelin Aline, Dutra,Roberta Lelis, Piazzon,Flavia Balbo, Dias,Alexandre Torchio, Novo-Filho,Gil Monteiro, Nascimento,Amom Mendes, Montenegro,Marília Moreira, Damasceno,Jullian Gabriel, Madia,Fabrícia Andreia Rosa, da Costa,Thaís Virgínia Moura Machado, Melaragno,Maria Isabel, Kim,Chong Ae, Kulikowski,Leslie Domenici
Published 2017

Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases

by Quaio,Caio Robledo D’Angioli Costa, Obando,María José Rivadeneira, Perazzio,Sandro Felix, Dutra,Aurelio Pimenta, Chung,Christine Hsiaoyun, Moreira,Caroline Monaco, Novo Filho,Gil Monteiro, Sacramento-Bobotis,Patricia Rossi, Penna,Michele Groenner, Souza,Rafaela Rogerio Floriano de, Cintra,Vivian Pedigone, Carnavalli,Juliana Emilia Prior, Silva,Rafael Alves da, Santos,Monize Nakamoto Provisor, Paixão,Daniele, Baratela,Wagner Antonio da Rosa, Olivati,Caroline, Spolador,Gustavo Marquezani, Pintao,Maria Carolina, Fornari,Alexandre Ricardo dos Santos, Burger,Matheus, Ramalho,Rodrigo Fernandes, Pereira,Otavio Jose Eulalio, Ferreira,Elisa Napolitano e, Mitne-Neto,Miguel, Kim,Chong Ae