1. Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases. Issue 4 (30th November 2020) Authors: Quaio, Caio Robledo D'Angioli Costa; Moreira, Caroline Monaco; Novo‐Filho, Gil Monteiro; Sacramento‐Bobotis, Patricia Rossi; Groenner Penna, Michele; Perazzio, Sandro Felix; Dutra, Aurelio Pimenta; da Silva, Rafael Alves; Santos, Monize Nakamoto Provisor; de Arruda, Vanessa Yurie Nozaki; Freitas,... Other Names: Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.; Zarate Yuri A guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 4(2020) Page Start: 955 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients. Issue 3 (16th July 2021) Authors: Quaio, Caio Robledo D'Angioli Costa; Chung, Christine Hsiaoyun; Perazzio, Sandro Felix; Dutra, Aurelio Pimenta; Moreira, Caroline Monaco; Filho, Gil Monteiro Novo; Sacramento‐Bobotis, Patricia Rossi; Penna, Michele Groenner; de Souza, Rafaela Rogerio Floriano; Cintra, Vivian Pedigone; Carnavalli,... Other Names: Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor. Journal: American journal of medical genetics Issue: Volume 187:Issue 3(2021) Page Start: 364 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗