| Sanjeevini: a freely accessible web-server for target directed lead molecule discovery B Jayaram, T Singh, G Mukherjee, A Mathur, S Shekhar, V Shekhar BMC bioinformatics 13 (Suppl 17), S7, 2012 | 222 | 2012 |
| Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center’s experience CA Valencia, A Husami, J Holle, JA Johnson, Y Qian, A Mathur, C Wei, ... Frontiers in Pediatrics 3, 67, 2015 | 208 | 2015 |
| Label-free Glycopeptide Quantification for Biomarker Discovery in Human Sera A Mayampurath, E Song, A Mathur, CY Yu, ZT Hammoud, Y Mechref, ... Journal of proteome research, 2014 | 48 | 2014 |
| Low-pass genome sequencing: validation and diagnostic utility from 409 clinical cases of low-pass genome sequencing for the detection of copy number variants to replace … A Chaubey, S Shenoy, A Mathur, Z Ma, CA Valencia, BRR Nallamilli, ... The Journal of Molecular Diagnostics 22 (6), 823-840, 2020 | 45 | 2020 |
| A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing BRR Nallamilli, A Chaubey, CA Valencia, L Stansberry, AM Behlmann, ... Human mutation 42 (5), 626-638, 2021 | 29 | 2021 |
| Genophenotypic analysis of pediatric patients with acute recurrent and chronic pancreatitis JJ Palermo, TK Lin, L Hornung, CA Valencia, A Mathur, K Jackson, L Fei, ... Pancreas 45 (9), 1347-1352, 2016 | 28 | 2016 |
| Deep sequencing reveals novel genetic variants in children with acute liver failure and tissue evidence of impaired energy metabolism CA Valencia, X Wang, J Wang, A Peters, JR Simmons, MC Moran, ... PLoS One 11 (8), e0156738, 2016 | 15 | 2016 |
| SWIFT MODELLER: A JAVA based GUI for molecular modeling A Mathur, Shankaracharya, AS Vidyarthi Journal of molecular modeling 17, 2601-2607, 2011 | 13 | 2011 |
| Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience. Front Pediatr. 2015; 3: 67 CA Valencia, A Husami, J Holle, JA Johnson, Y Qian, A Mathur Epub 2015/08/19. https://doi. org/10.3389/fped. 2015.00067 PMID: 26284228, 2015 | 9 | 2015 |
| Misleading results from saliva samples of patients post-BMT in exome analyses CA Valencia, SR Indugula, A Mathur, C Wei, JC Brown, I Cole, S Dell, ... Blood, The Journal of the American Society of Hematology 124 (4), 660-661, 2014 | 6 | 2014 |
| SWIFT MODELLER v2. 0: a platform-independent GUI for homology modeling A Mathur, Shankaracharya, AS Vidyarthi Journal of molecular modeling 18, 3021-3023, 2012 | 6 | 2012 |
| Gene dosage defects in primary immunodeficiencies and related disorders: a pilot study L Dyer, X Li, J Denton, B Jones, E Liston, D Hilton, A Mathur, K Zhang, ... Journal of Translational Genetics and Genomics¦ Volume 1, 2, 2017 | 5 | 2017 |
| At-risk genomic findings for pediatric-onset disorders from genome sequencing vs medically actionable gene panel in proactive screening of newborns and children J Balciuniene, R Liu, L Bean, F Guo, BRR Nallamilli, N Guruju, ... JAMA Network Open 6 (7), e2326445-e2326445, 2023 | 4 | 2023 |
| Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test F Guo, R Liu, Y Pan, C Collins, L Bean, Z Ma, A Mathur, C Da Silva, ... Genetics in Medicine 26 (1), 100995, 2024 | 3 | 2024 |
| eP355: Repeat expansion disorders screening by genome sequencing: strategy and stumbling blocks F Guo, A Mathur, R Liu, C Collins, L Bean, M Hegde Genetics in Medicine 24 (3), S223, 2022 | 1 | 2022 |
| CCEPAS: the creation and validation of a fast and sensitive clinical whole exome analysis pipeline based on gene and variant ranking CA Valencia, A Mathur, J Denton, C Wei, X Wang, A Husami, ... J Transl Genet Genom 2, 1, 2018 | 1 | 2018 |
| P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging J Balciuniene, R Liu, L Bean, BRR Nallamilli, N Guruju, X Chen-Deutsch, ... Genetics in Medicine Open 2, 101618, 2024 | | 2024 |
| P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset J Balciuniene, R Liu, C Collins, L Bean, F Guo, BRR Nallamilli, N Guruju, ... Genetics in Medicine Open 1 (1), 100472, 2023 | | 2023 |
| P443: Genetic screening of a reportedly healthy population for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and Lynch syndrome C Collins, S Shenoy, A Mathur, M Hegde Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test F Guo, R Liu, Y Pan, CD Collins, L Bean, BRR Nallamilli, N Guruju, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
C. Alexander Valencia, PhDChief Clinical Officer, Aperiomics, Inc.在 aperiomics.com 的电子邮件经过验证
