Autosomal recessive ataxias: 20 types, and counting Ataxias autossômicas recessivas: 20 tipos e muito mais by Emília Katiane Embiruçu, Marcília Lima Martyn, David Schlesinger, Fernando Kok

Get full text

P657: Real-world evaluation of ExpansionHunter for detecting STR expansions in whole-exome sequencing data: Insights from a clinical diagnostic setting by Matheus Castro, João Paulo Kitajima, Fabíola Monteiro, David Schlesinger, Fernando Kok

Get full text

A Breast Cancer Polygenic Risk Score Validation in 15,490 Brazilians Using Exome Sequencing by Flávia Eichemberger Rius, Rodrigo Santa Cruz Guindalini, Danilo Viana, Júlia Salomão, Laila Gallo, Renata Freitas, Cláudia Bertolacini, Lucas Taniguti, Danilo Imparato, Flávia Antunes, Gabriel Sousa, Renan Achjian, Eric Fukuyama, Cleandra Gregório, Iuri Ventura, Juliana Gomes, Nathália Taniguti, Simone Maistro, José Eduardo Krieger, Yonglan Zheng, Dezheng Huo, Olufunmilayo I. Olopade, Maria Aparecida Azevedo Koike Folgueira, David Schlesinger

Get full text

Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort by Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, André Macedo Serafim da Silva, Tatiana Ribeiro Fernandes, Clara Gontijo Camelo, Michelle Abdo Paiva, Filipe Tupinamba di Pace, Andre Luiz Santos Pessoa, Vitor Lucas Lopes Braga, Tamiris Carneiro Mariano, Eduardo de Paula Estephan, Maria da Penha Morita, Anna Paula Paranhos Miranda Covaleski, Vanessa Van der Linden, Pedro José Tomaselli, Giuliano Roberto Scarpellini, Juliana Gurgel-Giannetti, Lívia Maria Ferreira Sobrinho, Thais Martins de Oliveira, Rodrigo Holanda Mendonça, Elizabeth Lemos Silveira Lucas, Marcelo Maroco Cruzeiro, Carlos Wagner Pereira Junior, Wilson Marques Júnior, Claudia Ferreira da Rosa Sobreira, Acary Sousa Bulle Oliveira, Fernando Kok, Michio Hirano, Andres Nascimento-Osorio, David Schlesinger, Edmar Zanoteli

Get full text

P161: Impact and evolution of a philanthropic global network providing clinical genomic testing* by Erin Venti, Diane Masser-Frye, Miguel Del Campo, Marilyn Jones, Mario Cornejo-Olivas, Alid Manrique Palomino, Milagros Duenas-Roque, Gioconda Manassero-Morales, Jeny Bazalar-Montoya, Richard Rodriguez, Hildegard Peña Salguero, Mitzy Cervantes, Aime Lumaka, Gerrye Mubungu, Prince Makay, Mamy Ngole, Prosper Tshilobo Lukusa, Samuel Wiafe, Trudy Nyakambangwe, Patience Kuona, Gwen Kandawasvika, Nothando Napata, Adeline Vanderver, Omar Sherbini, Amy Pizzino, Donald Basel, Julie McCarrier, Marwan Shinawi, Nora Urraca, Chester Brown, Fabio Sirchia, Elisa Giorgio, Alan Taylor, Shruti Shenbagam, Ahmad Abou Tayoun, Erin Royer, Lindsey Schmidt, Denise Perry, Akanchha Kesari, Christian Marshall, Anna Pan, Kym Boycott, Meredith Gillespie, Caitlin Chisholm, Vaidehi Jobanputra, Ashley Wilson, Lena Fielding, David Schlesinger, Fernando Kok, Sharon Terry, Ryan Taft

Get full text