Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries.

Autor: Mazzonetto, Patricia C., Villela, Darine, Krepischi, Ana C. V., Pierry, Paulo M., Bonaldi, Adriano, Almeida, Luiz Gustavo D., Paula, Marcelo G., Bürger, Matheus Carvalho, de Oliveira, Ana Gabriela, Fonseca, Gustavo G. G., Giugliani, Roberto, Riegel‐Giugliani, Mariluce, Bertola, Débora, Yamamoto, Guilherme Lopes, Passos‐Bueno, Maria Rita, Campos, Gabriele da Silva, Machado, Ana Claudia Dantas, Mazzeu, Juliana F., Perrone, Eduardo, Zechi‐Ceide, Roseli M.

Publikováno v: American Journal of Medical Genetics. Part A; Nov2024, Vol. 194 Issue 11, p1-9, 9p

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.

Autor: Krepischi, Ana C. V.^1,2 (AUTHOR), Villela, Darine² (AUTHOR), da Costa, Silvia Souza¹ (AUTHOR), Mazzonetto, Patricia C.² (AUTHOR), Schauren, Juliana² (AUTHOR), Migliavacca, Michele P.² (AUTHOR), Milanezi, Fernanda² (AUTHOR), Santos, Juliana G.² (AUTHOR), Guida, Gustavo² (AUTHOR), Guarischi-Sousa, Rodrigo² (AUTHOR), Campana, Gustavo² (AUTHOR), Kok, Fernando³ (AUTHOR), Schlesinger, David³ (AUTHOR), Kitajima, Joao Paulo³ (AUTHOR), Campagnari, Francine³ (AUTHOR), Bertola, Debora R.^1,4 (AUTHOR), Vianna-Morgante, Angela M.¹ (AUTHOR), Pearson, Peter L.¹ (AUTHOR), Rosenberg, Carla^1,2 (AUTHOR) carlarosenberg@ib.usp.br

Publikováno v: Scientific Reports. 9/7/2022, Vol. 12 Issue 1, p1-11. 11p.

Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting.

Autor: Mazzonetto, Patricia C., Villela, Darine, da Costa, Silvia Souza, Krepischi, Ana C. V., Milanezi, Fernanda, Migliavacca, Michele P., Pierry, Paulo M., Bonaldi, Adriano, Almeida, Luiz Gustavo D., De Souza, Camila Alves, Kroll, José Eduardo, Paula, Marcelo G., Guarischi‐Sousa, Rodrigo, Scapulatempo‐Neto, Cristovam, Rosenberg, Carla

Publikováno v: Annals of Human Genetics; Mar2024, Vol. 88 Issue 2, p113-125, 13p

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