| Identification of a microRNA signature associated with progression of leukoplakia to oral carcinoma NK Cervigne, PP Reis, J Machado, B Sadikovic, G Bradley, NN Galloni, ... Human molecular genetics 18 (24), 4818-4829, 2009 | 333 | 2009 |
| CHARGE and Kabuki syndromes: gene-specific DNA methylation signatures identify epigenetic mechanisms linking these clinically overlapping conditions DT Butcher, C Cytrynbaum, AL Turinsky, MT Siu, M Inbar-Feigenberg, ... The American Journal of Human Genetics 100 (5), 773-788, 2017 | 182 | 2017 |
| Programmed cell death 4 loss increases tumor cell invasion and is regulated by miR-21 in oral squamous cell carcinoma PP Reis, M Tomenson, NK Cervigne, J Machado, I Jurisica, M Pintilie, ... Molecular cancer 9, 1-13, 2010 | 175 | 2010 |
| Low prevalence of human papillomavirus in oral cavity carcinomas J Machado, PP Reis, T Zhang, C Simpson, W Xu, B Perez-Ordonez, ... Head & neck oncology 2, 1-6, 2010 | 131 | 2010 |
| Claudin 1 overexpression increases invasion and is associated with aggressive histological features in oral squamous cell carcinoma PP Dos Reis, RR Bharadwaj, J Machado, C MacMillan, M Pintilie, ... Cancer: Interdisciplinary International Journal of the American Cancer …, 2008 | 130 | 2008 |
| Recurrent genomic alterations in sequential progressive leukoplakia and oral cancer: drivers of oral tumorigenesis? NK Cervigne, J Machado, RS Goswami, B Sadikovic, G Bradley, ... Human molecular genetics 23 (10), 2618-2628, 2014 | 66 | 2014 |
| DNA methylation signature for EZH2 functionally classifies sequence variants in three PRC2 complex genes S Choufani, WT Gibson, AL Turinsky, BHY Chung, T Wang, K Garg, ... The American Journal of Human Genetics 106 (5), 596-610, 2020 | 63 | 2020 |
| Optimization and analysis of a quantitative real-time PCR-based technique to determine microRNA expression in formalin-fixed paraffin-embedded samples RS Goswami, L Waldron, J Machado, NK Cervigne, W Xu, PP Reis, ... BMC biotechnology 10, 1-12, 2010 | 56 | 2010 |
| Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity N Sankar, J Machado, P Abdulla, AJ Hilliker, IR Coe Nucleic acids research 30 (20), 4339-4350, 2002 | 37 | 2002 |
| EHMT1 pathogenic variants and 9q34. 3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome SJ Goodman, C Cytrynbaum, BHY Chung, E Chater-Diehl, C Aziz, ... Journal of Translational Genetics and Genomics, 2020 | 16 | 2020 |
| Genomic analysis of nucleoside transporters in Diptera and functional characterization of DmENT2, a Drosophila equilibrative nucleoside transporter J Machado, P Abdulla, WJB Hanna, AJ Hilliker, IR Coe Physiological genomics 28 (3), 337-347, 2007 | 16 | 2007 |
| Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization C Eno, P Bayrak-Toydemir, L Bean, A Braxton, EC Chao, D El-Khechen, ... Genetics in Medicine 21 (4), 861-866, 2019 | 15 | 2019 |
| Angelman Syndrome Due to a Termination Codon Mutation of the UBE3A Gene A Al-Maawali, J Machado, P Fang, L Dupuis, H Faghfoury, ... Journal of Child Neurology 28 (3), 392-395, 2013 | 7 | 2013 |
| Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation JN Hatton, MN Frone, HC Cox, SB Crowley, S Hiraki, NN Yokoyama, ... Human mutation 2023, 2023 | 4 | 2023 |
| Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease S Albanyan, RH Giles, EM Gimeno, J Silver, J Murphy, H Faghfoury, ... European Journal of Medical Genetics 62 (3), 177-181, 2019 | 3 | 2019 |
| Abstract PO1-08-08: Hereditary cancer genetic testing in Puerto Rican females H Cox, D Hartzfeld, S Gessy, C Zaleski, J Machado Cancer Research 84 (9_Supplement), PO1-08-08-PO1-08-08, 2024 | | 2024 |
| P708: Clinical laboratory quality system enhancement addressing acquired loss of chromosome Y H Cox, C Schultz, J Machado Genetics in Medicine Open 2, 2024 | | 2024 |
| P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel D Ritter, C Badduke, M Anderson, A Danos, K Doonanco, K Farncombe, ... Genetics in Medicine Open 2, 2024 | | 2024 |
| A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma S Ahmad, L Manon, G Bhat, J Machado, A Zalan, N Mata-Machado, ... Human Genome Variation 7 (1), 39, 2020 | | 2020 |
| A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma LM Saba Ahmad, G Bhat, J Machado, A Zalan, N Mata-Machado, ... | | 2020 |
