| Quality metrics for enhanced performance of an NGS panel using single-vial amplification technology S Barua, S Hsiao, E Clancy, C Freeman, M Mansukhani, H Fernandes Journal of Clinical Pathology 77 (1), 46-53, 2024 | 1 | 2024 |
| A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report R Sasi, J Senft, M Spruill, S Barua, S Dougaparsad, JA Vos, PL Perrotta Molecular Cytogenetics 15 (1), 51, 2022 | | 2022 |
| Clinical exome sequencing for inherited retinal degenerations at a tertiary care center M Ganapathi, A Thomas-Wilson, C Buchovecky, A Dharmadhikari, ... Scientific Reports 12 (1), 9358, 2022 | 7 | 2022 |
| Expanding the phenotype of ATP6AP1 deficiency S Barua, S Berger, EM Pereira, V Jobanputra Molecular Case Studies 8 (4), a006195, 2022 | 5 | 2022 |
| 3q27. 1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities S Barua, EM Pereira, V Jobanputra, K Anyane-Yeboa, B Levy, J Liao Molecular Cytogenetics 15 (1), 7, 2022 | 2 | 2022 |
| eP056: Myelodysplastic syndrome/myeloproliferative neoplasm with highly complex intrachromosomal rearrangements resulting from multiple 5q15q32 deletions, 5’PDGFRβ deletion … R Sasi, J Senft, M Spruill, S Barua, J Vos, P Perrotta Genetics in Medicine 24 (3), S35-S36, 2022 | | 2022 |
| eP318: Concurrent somatic 9p21 deletion and germline EP300 variant in a patient with T-ALL, immunodeficiency and malformations: Phenotypic expansion or comorbidities? S Barua, T Kowalski, V Murty, A Iglesias, J Liao Genetics in Medicine 24 (3), S199-S200, 2022 | | 2022 |
| Clinical Exome Sequencing for Inherited Retinal Disorders at a Tertiary Care Center M Ganapathi, A Thomas-Wilson, C Buchovecky, A Dharmadhikari, ... | | 2022 |
| A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report NC Lippa, S Barua, V Aggarwal, E Pereira, JM Bain BMC neurology 21, 1-4, 2021 | 7 | 2021 |
| ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature ST Kushary, A Revah‐Politi, S Barua, M Ganapathi, A Accogli, ... American journal of medical genetics Part A 185 (12), 3740-3753, 2021 | 22 | 2021 |
| 3q27. 1 Microdeletion Causes a Clinically Recognizable Syndrome Characterized by Severe Prenatal and Postnatal Growth Restriction and Neurodevelopmental Abnormalities S Barua, E Pereira, V Jobanputra, K Anyane-Yeboa, B Levy, J Liao | | 2021 |
| Overview of Biofilms and Some Key Methods for Their Study P Basu, M Boadu, IN Hirshfield Practical Handbook of Microbiology, 857-872, 2021 | 1 | 2021 |
| Key considerations for comprehensive validation of an RNA fusion NGS panel S Barua, G Wang, M Mansukhani, S Hsiao, H Fernandes Practical laboratory medicine 21, e00173, 2020 | 15 | 2020 |
| Enhanced Performance of Targeted NGS Assays Using Single-Vial Amplification S Barua, D Hemnauth, S Hsiao, M Mansukhani, H Fernandes JOURNAL OF MOLECULAR DIAGNOSTICS 21 (6), 1236-1236, 2019 | | 2019 |
| Targeting SLMAP-ALK—a novel gene fusion in lung adenocarcinoma C Pagan, S Barua, SJ Hsiao, M Mansukhani, A Saqi, V Murty, ... Molecular Case Studies 5 (3), a003939, 2019 | 10 | 2019 |
| Evaluation of Residual Fluids from Fine Needle Aspirates for Interrogation of Variants Using NGS S Sung, A Saqi, S Barua, A Pavis, H Fernandes JOURNAL OF MOLECULAR DIAGNOSTICS 20 (6), 1008-1009, 2018 | | 2018 |
| Single-Vial Amplification Based NGS with Rapid Turn-Around-Time for Interrogation of Variants in Tumors with Limited Diagnostic Material S Barua, C Pagan, V Hodel, M Ko, E Petrilli, S Hsiao, M Mansukhani, ... JOURNAL OF MOLECULAR DIAGNOSTICS 20 (6), 1001-1001, 2018 | | 2018 |
| Use of highly multiplexed reference materials to facilitate validation of a clinical NGS tumor fusion RNA assay C Huang, S Barua, D Philkana, R Garlick, B Anekella, H Fernandes Cancer Research 78 (13_Supplement), 4758-4758, 2018 | | 2018 |
| Use of Highly Multiplexed Reference Materials to Facilitate Validation of a Clinical NGS Tumor Fusion RNA Assay D Brudzewsky, C Huang, S Barua, O Clement, RK Garlick, H Fernandes, ... JOURNAL OF MOLECULAR DIAGNOSTICS 20 (3), S4-S5, 2018 | | 2018 |
| Expanding the Landscape of ALK Fusion Partners in NSCLC S Barua, C Pagan, C Freeman, M Mansukhani, A Sireci, S Hsiao, ... JOURNAL OF MOLECULAR DIAGNOSTICS 19 (6), 1052-1052, 2017 | | 2017 |
William Ted BrownInstitute for Basic Research在 sydney.edu.au 的电子邮件经过验证
