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Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Published in:
Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00289
By:
- Gonsales, Marina C.;
- Montenegro, Maria Augusta;
- Preto, Paula;
- Guerreiro, Marilisa M.;
- Coan, Ana Carolina;
- Quast, Monica Paiva;
- Carvalho, Benilton S.;
- Lopes-Cendes, Iscia
Publication type:
Article
Combined Analysis of SNP Array Data Identifies Novel CNV Candidates and Pathways in Ependymoma and Mesothelioma.
Published in:
BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/902419
By:
- Wajnberg, Gabriel;
- Carvalho, Benilton S.;
- Ferreira, Carlos G.;
- Passetti, Fabio
Publication type:
Article
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 396, doi. 10.1002/ajmg.c.31937
By:
- Silveira, Karina C.;
- Kanazawa, Thatiane Y.;
- Silveira, Cynthia;
- Lacarrubba‐Flores, Maria D. J.;
- Carvalho, Benilton S.;
- Cavalcanti, Denise P.
Publication type:
Article
A mesomelic skeletal dysplasia, Kantaputra‐like, not related to HOXD cluster region, and with phenotypic gender differences.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 328, doi. 10.1002/ajmg.a.63444
By:
- Lacarrubba‐Flores, Maria Dora Jazmin;
- da Costa Silveira, Karina;
- Silveira, Cynthia;
- Carvalho, Benilton S.;
- Cavalcanti, Denise Pontes
Publication type:
Article
Orchestrating high-throughput genomic analysis with Bioconductor.
Published in:
Nature Methods, 2015, v. 12, n. 2, p. 115, doi. 10.1038/nmeth.3252
By:
- Huber, Wolfgang;
- Carey, Vincent J;
- Gentleman, Robert;
- Anders, Simon;
- Carlson, Marc;
- Carvalho, Benilton S;
- Bravo, Hector Corrada;
- Davis, Sean;
- Gatto, Laurent;
- Girke, Thomas;
- Gottardo, Raphael;
- Hahne, Florian;
- Hansen, Kasper D;
- Irizarry, Rafael A;
- Lawrence, Michael;
- Love, Michael I;
- MacDonald, James;
- Obenchain, Valerie;
- Oleś, Andrzej K;
- Pagès, Hervé
Publication type:
Article
The challenges of delivering bioinformatics training in the analysis of high-throughput data.
Published in:
Briefings in Bioinformatics, 2013, v. 14, n. 5, p. 538, doi. 10.1093/bib/bbt018
By:
- Carvalho, Benilton S.;
- Rustici, Gabriella
Publication type:
Article
The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00149-6
By:
- Rocha, Cristiane S.;
- Secolin, Rodrigo;
- Rodrigues, Maíra R.;
- Carvalho, Benilton S.;
- Lopes-Cendes, Iscia
Publication type:
Article
Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips.
Published in:
BMC Bioinformatics, 2011, v. 12, n. 1, p. 68, doi. 10.1186/1471-2105-12-68
By:
- Ritchie, Matthew E.;
- Ruijie Liu;
- Carvalho, Benilton S.;
- Irizarry, Rafael A.
Publication type:
Article
Distribution of local ancestry and evidence of adaptation in admixed populations.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50362-2
By:
- Secolin, Rodrigo;
- Mas-Sandoval, Alex;
- Arauna, Lara R.;
- Torres, Fábio R.;
- de Araujo, Tânia K.;
- Santos, Marilza L.;
- Rocha, Cristiane S.;
- Carvalho, Benilton S.;
- Cendes, Fernando;
- Lopes-Cendes, Iscia;
- Comas, David
Publication type:
Article
A field guide to cultivating computational biology.
Published in:
PLoS Biology, 2021, v. 19, n. 10, p. 1, doi. 10.1371/journal.pbio.3001419
By:
- Way, Gregory P.;
- Greene, Casey S.;
- Carninci, Piero;
- Carvalho, Benilton S.;
- de Hoon, Michiel;
- Finley, Stacey;
- Gosline, Sara J. C.;
- Lȇ Cao, Kim-Anh;
- Lee, Jerry S. H.;
- Marchionni, Luigi;
- Robine, Nicolas;
- Sindi, Suzanne S.;
- Theis, Fabian J.;
- Yang, Jean Y. H.;
- Carpenter, Anne E.;
- Fertig, Elana J.
Publication type:
Article
Benchmarking the proteomic profile of animal models of mesial temporal epilepsy.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 4, p. 454, doi. 10.1002/acn3.51533
By:
- Canto, Amanda M.;
- Godoi, Alexandre B.;
- Matos, Alexandre H. B.;
- Geraldis, Jaqueline C.;
- Rogerio, Fabio;
- Alvim, Marina K. M.;
- Yasuda, Clarissa L.;
- Ghizoni, Enrico;
- Tedeschi, Helder;
- Veiga, Diogo F. T.;
- Henning, Barbara;
- Souza, Welliton;
- Rocha, Cristiane S.;
- Vieira, André S.;
- Dias, Elayne V.;
- Carvalho, Benilton S.;
- Gilioli, Rovilson;
- Arul, Albert B.;
- Robinson, Renã A. S.;
- Cendes, Fernando
Publication type:
Article
Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia.
Published in:
2018
By:
- Avansini, Simoni H.;
- Torres, Fábio R.;
- Vieira, André S.;
- Dogini, Danyella B.;
- Rogerio, Fabio;
- Coan, Ana C.;
- Morita, Marcia E.;
- Guerreiro, Marilisa M.;
- Yasuda, Clarissa L.;
- Secolin, Rodrigo;
- Carvalho, Benilton S.;
- Borges, Murilo G.;
- Almeida, Vanessa S.;
- Araújo, Patrícia A. O. R.;
- Queiroz, Luciano;
- Cendes, Fernando;
- Lopes‐Cendes, Iscia;
- Lopes-Cendes, Iscia
Publication type:
journal article
A Prediction Algorithm for Drug Response in Patients with Mesial Temporal Lobe Epilepsy Based on Clinical and Genetic Information.
Published in:
PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169214
By:
- Silva-Alves, Mariana S.;
- Secolin, Rodrigo;
- Carvalho, Benilton S.;
- Yasuda, Clarissa L.;
- Bilevicius, Elizabeth;
- Alvim, Marina K. M.;
- Santos, Renato O.;
- Maurer-Morelli, Claudia V.;
- Cendes, Fernando;
- Lopes-Cendes, Iscia
Publication type:
Article
Multi‐omics analysis suggests enhanced epileptogenesis in the Cornu Ammonis 3 of the pilocarpine model of mesial temporal lobe epilepsy.
Published in:
Hippocampus, 2021, v. 31, n. 2, p. 122, doi. 10.1002/hipo.23268
By:
- Canto, Amanda M.;
- Matos, Alexandre H. B.;
- Godoi, Alexandre B.;
- Vieira, André S.;
- Aoyama, Beatriz B.;
- Rocha, Cristiane S.;
- Henning, Barbara;
- Carvalho, Benilton S.;
- Pascoal, Vinicius D.B.;
- Veiga, Diogo F. T.;
- Gilioli, Rovilson;
- Cendes, Fernando;
- Lopes‐Cendes, Iscia
Publication type:
Article
A framework for oligonucleotide microarray preprocessing.
Published in:
Bioinformatics, 2010, v. 26, n. 19, p. 2363, doi. 10.1093/bioinformatics/btq431
By:
- Carvalho, Benilton S.;
- Irozarry, Rafael A.
Publication type:
Article
Quantifying uncertainty in genotype calls.
Published in:
Bioinformatics, 2010, v. 26, n. 2, p. 242, doi. 10.1093/bioinformatics/btp624
By:
- Carvalho, Benilton S.;
- Louis, Thomas A.;
- Irizarry, Rafael A.
Publication type:
Article
R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips.
Published in:
Bioinformatics, 2009, v. 25, n. 19, p. 2621, doi. 10.1093/bioinformatics/btp470
By:
- Ritchie, Matthew E.;
- Carvalho, Benilton S.;
- Hetrick, Kurt N.;
- Tavaré, Simon;
- Irizarry, Rafael A.
Publication type:
Article
MicroRNA hsa-miR-134 is a circulating biomarker for mesial temporal lobe epilepsy.
Published in:
PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0173060
By:
- Avansini, Simoni H.;
- de Sousa Lima, Beatriz Pereira;
- Secolin, Rodrigo;
- Santos, Marilza L.;
- Coan, Ana Carolina;
- Vieira, André S.;
- Torres, Fábio R.;
- Carvalho, Benilton S.;
- Alvim, Marina K. M.;
- Morita, Márcia E.;
- Yasuda, Clarissa L.;
- Pimentel-Silva, Luciana R.;
- Dogini, Danyella B.;
- Rogerio, Fabio;
- Cendes, Fernando;
- Lopes-Cendes, Iscia
Publication type:
Article

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