Mutations in the Glycosylphosphatidylinositol Gene< i> PIGL</i> Cause CHIME Syndrome BG Ng, K Hackmann, MA Jones, AM Eroshkin, P He, R Wiliams, S Bhide, ... The American Journal of Human Genetics, 2012 | 139 | 2012 |
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation MA Jones, S Bhide, E Chin, BG Ng, D Rhodenizer, VW Zhang, JJ Sun, ... Genetics in Medicine 13 (11), 921, 2011 | 118 | 2011 |
Exome sequencing covers> 98% of mutations identified on targeted next generation sequencing panels H LaDuca, KD Farwell, H Vuong, HM Lu, W Mu, L Shahmirzadi, S Tang, ... Plos one 12 (2), e0170843, 2017 | 114 | 2017 |
Validation of a host response assay, SeptiCyte LAB, for discriminating sepsis from systemic inflammatory response syndrome in the ICU RR Miller III, BK Lopansri, JP Burke, M Levy, S Opal, RE Rothman, ... American journal of respiratory and critical care medicine 198 (7), 903-913, 2018 | 92 | 2018 |
Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel CA Valencia, A Ankala, D Rhodenizer, S Bhide, MR Littlejohn, LM Keong, ... PloS one 8 (1), e53083, 2013 | 87 | 2013 |
DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation MA Jones, BG Ng, S Bhide, E Chin, D Rhodenizer, P He, ME Losfeld, ... The American Journal of Human Genetics, 2012 | 72 | 2012 |
Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy CA Valencia, D Rhodenizer, S Bhide, E Chin, MR Littlejohn, LM Keong, ... The Journal of Molecular Diagnostics, 2012 | 70 | 2012 |
A four-biomarker blood signature discriminates systemic inflammation due to viral infection versus other etiologies DL Sampson, BA Fox, TD Yager, S Bhide, S Cermelli, LC McHugh, ... Scientific reports 7 (1), 2914, 2017 | 66 | 2017 |
Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene A Ankala, JN Kohn, A Hegde, A Meka, CLH Ephrem, SH Askree, S Bhide, ... Genome Research 22 (1), 25-34, 2012 | 65 | 2012 |
A four-biomarker blood signature discriminates systemic inflammation due to viral infection versus other etiologies. Sci Rep 7: 2914 DL Sampson, BA Fox, TD Yager, S Bhide, S Cermelli, LC McHugh, ... | 6 | 2017 |
Targeted PCR-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation (CDG) MA Jones, S Bhide, E Chin, BG Ng, D Rhodenizer, VW Zhang, JJ Sun, ... Genetics in Medicine 13 (11), 921, 2011 | 5 | 2011 |
Validation of a host response assay, septicyte LAB, for discriminating sepsis from systemic inflammatory response syndrome in the ICU BK Lopansri, JP Burke, M Levy, S Opal, RE Rothman, FR D'Alessio, ... American Thoracic Society, 2018 | | 2018 |
Clinical Experiences of a Custom 68-Gene NGS Panel for Molecular Testing in Solid Tumors D Xu, HS Yi, S Bhide, C Lunter, A Rivera, A Berry LABORATORY INVESTIGATION 95, 528A-528A, 2015 | | 2015 |
Marie-Estelle Losfeld, 2 Miao He, Kimiyo Raymond, 3 Gerard Berry, 4 Hudson H. Freeze, 2 and Madhuri R. Hegde1 MA Jones, BG Ng, S Bhide, E Chin, D Rhodenizer, P He | | |
Item Title DL Sampson, BA Fox, TD Yager, S Bhide, S Cermelli, LC McHugh, ... | | |
Mutation Detection Rate of Exome Sequencing Using Next Generation Sequencing Panel Results as a Reference S Bhide, H LaDuca, K Gonzalez, L Shahmirzadi, S Tang, S Fischbach, ... | | |