Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 59 | 2023 |
Complete genome sequence of the potato pathogen Ralstonia solanacearum UY031 R Guarischi-Sousa, M Puigvert, NS Coll, MI Siri, MJ Pianzzola, M Valls, ... Standards in genomic sciences 11, 1-8, 2016 | 50 | 2016 |
Transcriptomes of Ralstonia solanacearum during Root Colonization of Solanum commersonii M Puigvert, R Guarischi-Sousa, P Zuluaga, NS Coll, AP Macho, ... Frontiers in Plant Science 8, 370, 2017 | 32 | 2017 |
Distinct patterns of somatic alterations in a lymphoblastoid and a tumor genome derived from the same individual PAF Galante, RB Parmigiani, Q Zhao, OL Caballero, JE De Souza, ... Nucleic acids research 39 (14), 6056-6068, 2011 | 23 | 2011 |
Comparative Analysis of Ralstonia solanacearum Methylomes I Erill, M Puigvert, L Legrand, R Guarischi-Sousa, C Vandecasteele, ... Frontiers in plant science 8, 504, 2017 | 21 | 2017 |
A transcriptome-based signature of pathological angiogenesis predicts breast cancer patient survival R Guarischi-Sousa, JS Monteiro, LC Alecrim, JS Michaloski, LB Cardeal, ... PLoS genetics 15 (12), e1008482, 2019 | 17 | 2019 |
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil ACV Krepischi, D Villela, SS da Costa, PC Mazzonetto, J Schauren, ... Scientific Reports 12 (1), 15184, 2022 | 14 | 2022 |
Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting PC Mazzonetto, D Villela, SS da Costa, ACV Krepischi, F Milanezi, ... Annals of Human Genetics 88 (2), 113-125, 2024 | 8 | 2024 |
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing JX Chong, SI Berger, S Baxter, E Smith, C Xiao, DG Calame, MH Hawley, ... Genetics in Medicine 26 (10), 101199, 2024 | 2 | 2024 |
Contemporary Polygenic Scores of Low-Density Lipoprotein Cholesterol and Coronary Artery Disease Predict Coronary Atherosclerosis in Adolescents and Young Adults R Guarischi-Sousa, E Salfati, PF Kho, KR Iyer, AT Hilliard, DM Herrington, ... Circulation: Genomic and Precision Medicine 16 (5), 480-482, 2023 | 2 | 2023 |
Drug efflux transporters and imatinib mesylate insensitivity in chronic myeloid leukemia CFA Moreira-Nunes, ACS Beltrão, LTVM Francês, RGMA Sousa, ... Blood 120 (21), 4424, 2012 | 2 | 2012 |
A plasma proteomic signature for atherosclerotic cardiovascular disease risk prediction in the UK Biobank cohort TP Gupte, Z Azizi, PF Kho, J Zhou, ML Chen, DJ Panyard, ... medRxiv, 2024 | 1 | 2024 |
Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil MP Migliavacca, J Sobreira, D Bermeo, M Gomes, D Alencar, L Sussuchi, ... American Journal of Medical Genetics Part A 194 (6), e63544, 2024 | 1 | 2024 |
A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis R Guarischi-Sousa, JE Kroll, A Bonaldi, PM Pierry, D Villela, CA Souza, ... Diagnostics 13 (21), 3293, 2023 | 1 | 2023 |
BMC Bioinformatics reviewer acknowledgement 2015 D Krüger BMC Bioinformatics 17 (1), 79, 2016 | 1 | 2016 |
Integrating Multi-Omics, Phenotypic, and Social Determinants for Stroke Prediction in Atrial Fibrillation: Advancing Precision Health Using Machine Learning Z Azizi, T Gupte, J Zhou, PF Kho, R Guarischi-Sousa, E Chen, D Panyard, ... Circulation 150 (Suppl_1), A4146723-A4146723, 2024 | | 2024 |
Plasma proteomics and carotid intima-media thickness in the UK biobank cohort ML Chen, PF Kho, R Guarischi-Sousa, J Zhou, DJ Panyard, Z Azizi, ... Frontiers in Cardiovascular Medicine 11, 1478600, 2024 | | 2024 |
7515 Plasma proteomic signatures for type 2 diabetes mellitus and related traits in the UK Biobank T Gupte, Z Azizi, K Nzenkue, PF Kho, ML Chen, J Zhou, ... Journal of the Endocrine Society 8 (Supplement_1), bvae163. 881, 2024 | | 2024 |
Plasma proteomic signatures for type 2 diabetes mellitus and related traits in the UK Biobank cohort TP Gupte, Z Azizi, PF Kho, J Zhou, K Nzenkue, ML Chen, DJ Panyard, ... medRxiv, 2024 | | 2024 |
A Plasma Proteomic Signature For Atherosclerotic Cardiovascular Disease Risk Prediction In The UK Biobank T Gupte, Z Azizi, K Nzenkue, PF Kho, ML Chen, J Zhou, ... Arteriosclerosis, Thrombosis, and Vascular Biology 44 (Suppl_1), A1106-A1106, 2024 | | 2024 |