Clinical genomics and precision medicine

por Pena, Sérgio D. J., Tarazona-Santos, Eduardo
Publicado 2022

A Worldwide Phylogeography for the Human X Chromosome

por Santos-Lopes, Simone S., Pereira, Rinaldo W., Wilson, Ian J., Pena, Sérgio D.J.
Publicado 2007

Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1

por Linhares, Natália Duarte, Arantes, Rodrigo Rezende, Araujo, Stanley Almeida, Pena, Sergio D J
Publicado 2018

Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders

por G. C. C. L. Cardenas, Raony, D. Linhares, Natália, L. Ferreira, Raquel, Pena, Sérgio D. J.
Publicado 2017

Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing

por Linhares, Natália D., Wilk, Piotr, Wątor, Elżbieta, Tostes, Meire A., Weiss, Manfred S., Pena, Sergio D. J.
Publicado 2021

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

por Giugliani, Roberto, Vairo, Filippo P., Riegel, Mariluce, de Souza, Carolina F. M., Schwartz, Ida V. D., Pena, Sérgio D. J.
Publicado 2016

Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant

por Linhares, Natália Duarte, Fagundes, Eleonora Druve Tavares, Ferreira, Alexandre Rodrigues, Queiroz, Thaís Costa Nascentes, da Silva, Luiz Roberto, Pena, Sergio D. J.
Publicado 2022

Virus-Host Coevolution: Common Patterns of Nucleotide Motif Usage in Flaviviridae and Their Hosts

por Lobo, Francisco P., Mota, Bruno E. F., Pena, Sérgio D. J., Azevedo, Vasco, Macedo, Andréa M., Tauch, Andreas, Machado, Carlos R., Franco, Glória R.
Publicado 2009

Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype

por Carr, Ian M., Diggle, Christine P., Khan, Kamron, Inglehearn, Chris, McKibbin, Martin, Bonthron, David T., Markham, Alexander F., Anwar, Rashida, Dobbie, Angus, Pena, Sergio D.J., Ali, Manir
Publicado 2012

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

por Watson, Christopher M., Crinnion, Laura A., Gurgel‐Gianetti, Juliana, Harrison, Sally M., Daly, Catherine, Antanavicuite, Agne, Lascelles, Carolina, Markham, Alexander F., Pena, Sergio D. J., Bonthron, David T., Carr, Ian M.
Publicado 2015

The MHC Gene Region of Murine Hosts Influences the Differential Tissue Tropism of Infecting Trypanosoma cruzi Strains

por Freitas, Jorge M., Andrade, Luciana O., Pires, Simone F., Lima, Ricardo, Chiari, Egler, Santos, Ricardo R., Soares, Milena, Machado, Carlos R., Franco, Gloria R., Pena, Sergio D. J., Macedo, Andrea M.
Publicado 2009

Global Pharmacogenomics: Distribution of CYP3A5 Polymorphisms and Phenotypes in the Brazilian Population

por Suarez-Kurtz, Guilherme, Vargens, Daniela D., Santoro, Ana Beatriz, Hutz, Mara H., de Moraes, Maria Elisabete, Pena, Sérgio D. J., Ribeiro-dos-Santos, Ândrea, Romano-Silva, Marco A., Struchiner, Claudio José
Publicado 2014

Distribution of CYP2D6 Alleles and Phenotypes in the Brazilian Population

por Friedrich, Deise C., Genro, Júlia P., Sortica, Vinicius A., Suarez-Kurtz, Guilherme, de Moraes, Maria Elizabete, Pena, Sergio D. J., dos Santos, Ândrea K. Ribeiro, Romano-Silva, Marco A., Hutz, Mara H.
Publicado 2014

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

por Linhares, Natália Duarte, Freire, Maíra Cristina Menezes, Cardenas, Raony Guimarães Corrêa do Carmo Lisboa, Pena, Heloisa Barbosa, Lachlan, Katherine, Dallapiccola, Bruno, Bacino, Carlos, Delobel, Bruno, James, Paul, Thuresson, Ann-Charlotte, Annerén, Göran, Pena, Sérgio D. J.
Publicado 2016

Ancestral Genomes, Sex, and the Population Structure of Trypanosoma cruzi

por de Freitas, Jorge M., Augusto-Pinto, Luiz, Pimenta, Juliana R, Bastos-Rodrigues, Luciana, Gonçalves, Vanessa F, Teixeira, Santuza M. R, Chiari, Egler, Junqueira, Ângela C. V, Fernandes, Octavio, Macedo, Andréa M, Machado, Carlos Renato, Pena, Sérgio D. J
Publicado 2006

Molecular Characterization of the Schistosoma mansoni Zinc Finger Protein SmZF1 as a Transcription Factor

por Drummond, Marcela G., Calzavara-Silva, Carlos E., D'Astolfo, Diego S., Cardoso, Fernanda C., Rajão, Matheus A., Mourão, Marina M., Gava, Elisandra, Oliveira, Sérgio C., Macedo, Andréa M., Machado, Carlos R., Pena, Sérgio D. J., Kitten, Gregory T., Franco, Glória R.
Publicado 2009

Oxidative Stress and DNA Lesions: The Role of 8-Oxoguanine Lesions in Trypanosoma cruzi Cell Viability

por Aguiar, Pedro H. N., Furtado, Carolina, Repolês, Bruno M., Ribeiro, Grazielle A., Mendes, Isabela C., Peloso, Eduardo F., Gadelha, Fernanda R., Macedo, Andrea M., Franco, Glória R., Pena, Sérgio D. J., Teixeira, Santuza M. R., Vieira, Leda Q., Guarneri, Alessandra A., Andrade, Luciana O., Machado, Carlos R.
Publicado 2013

Familial STAG2 germline mutation defines a new human cohesinopathy

por Soardi, Fernanda C., Machado-Silva, Alice, Linhares, Natália D., Zheng, Ge, Qu, Qianhui, Pena, Heloísa B., Martins, Thaís M. M., Vieira, Helaine G. S., Pereira, Núbia B., Melo-Minardi, Raquel C., Gomes, Carolina C., Gomez, Ricardo S., Gomes, Dawidson A., Pires, Douglas E. V., Ascher, David B., Yu, Hongtao, Pena, Sérgio D. J.
Publicado 2017

The Genomic Ancestry of Individuals from Different Geographical Regions of Brazil Is More Uniform Than Expected

por Pena, Sérgio D. J., Di Pietro, Giuliano, Fuchshuber-Moraes, Mateus, Genro, Julia Pasqualini, Hutz, Mara H., Kehdy, Fernanda de Souza Gomes, Kohlrausch, Fabiana, Magno, Luiz Alexandre Viana, Montenegro, Raquel Carvalho, Moraes, Manoel Odorico, de Moraes, Maria Elisabete Amaral, de Moraes, Milene Raiol, Ojopi, Élida B., Perini, Jamila A., Racciopi, Clarice, Ribeiro-dos-Santos, Ândrea Kely Campos, Rios-Santos, Fabrício, Romano-Silva, Marco A., Sortica, Vinicius A., Suarez-Kurtz, Guilherme
Publicado 2011

DNM1 encephalopathy: A new disease of vesicle fission

por von Spiczak, Sarah, Helbig, Katherine L., Shinde, Deepali N., Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E., Sarco, Dean P., Kaplan, Richard A., Dlugos, Dennis J., Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R., Cervenka, Mackenzie C., Cohen, Julie S., McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D., Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S., Palmer, Elizabeth, Lawson, John A., Campbell, Colleen A., Joshi, Charuta N., Kolbe, Diana L., Hollingsworth, Georgie, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E., Pena, Sérgio D.J., Sisodiya, Sanjay M., Helbig, Ingo
Publicado 2017