| Clinical whole-exome sequencing for the diagnosis of mendelian disorders Y Yang, DM Muzny, JG Reid, MN Bainbridge, A Willis, PA Ward, ... New England Journal of Medicine 369 (16), 1502-1511, 2013 | 2225 | 2013 |
| ClinGen—the clinical genome resource HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ... New England Journal of Medicine 372 (23), 2235-2242, 2015 | 1162 | 2015 |
| mtDNA variation and analysis using mitomap and mitomaster MT Lott, JN Leipzig, O Derbeneva, HM Xie, D Chalkia, M Sarmady, ... Current protocols in bioinformatics 44 (1), 1.23. 1-1.23. 26, 2013 | 570 | 2013 |
| Integrated proteogenomic characterization across major histological types of pediatric brain cancer F Petralia, N Tignor, B Reva, M Koptyra, S Chowdhury, D Rykunov, A Krek, ... Cell 183 (7), 1962-1985. e31, 2020 | 209 | 2020 |
| Transcriptome analysis of IL-10-stimulated (M2c) macrophages by next-generation sequencing EB Lurier, D Dalton, W Dampier, P Raman, S Nassiri, NM Ferraro, ... Immunobiology 222 (7), 847-856, 2017 | 174 | 2017 |
| Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease JR Kelsen, N Dawany, CJ Moran, BS Petersen, M Sarmady, A Sasson, ... Gastroenterology 149 (6), 1415-1424, 2015 | 130 | 2015 |
| Clinical utility of custom-designed NGS panel testing in pediatric tumors LF Surrey, SP MacFarland, F Chang, K Cao, KS Rathi, GT Akgumus, ... Genome medicine 11, 1-14, 2019 | 98 | 2019 |
| Automated clinical exome reanalysis reveals novel diagnoses SW Baker, JR Murrell, AI Nesbitt, KB Pechter, J Balciuniene, X Zhao, Z Yu, ... The Journal of Molecular Diagnostics 21 (1), 38-48, 2019 | 82 | 2019 |
| Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases M Zhao, JM Havrilla, L Fang, Y Chen, J Peng, C Liu, C Wu, M Sarmady, ... NAR genomics and Bioinformatics 2 (2), lqaa032, 2020 | 56 | 2020 |
| Use of a dynamic genetic testing approach for childhood-onset epilepsy J Balciuniene, ET DeChene, G Akgumus, EJ Romasko, K Cao, HA Dubbs, ... JAMA network open 2 (4), e192129-e192129, 2019 | 50 | 2019 |
| Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss S Sheppard, S Biswas, MH Li, V Jayaraman, I Slack, EJ Romasko, ... Genetics in Medicine 20 (12), 1663-1676, 2018 | 44 | 2018 |
| Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders A Nesbitt, EJ Bhoj, K McDonald Gibson, Z Yu, E Denenberg, M Sarmady, ... American Journal of Medical Genetics Part A 167 (11), 2548-2554, 2015 | 42 | 2015 |
| Utilizing nanopore sequencing technology for the rapid and comprehensive characterization of eleven HLA loci; addressing the need for deceased donor expedited HLA typing TL Mosbruger, A Dinou, JL Duke, D Ferriola, H Mehler, I Pagkrati, ... Human immunology 81 (8), 413-422, 2020 | 40 | 2020 |
| Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing S Rentas, KS Rathi, M Kaur, P Raman, ID Krantz, M Sarmady, ... Genetics in Medicine 22 (5), 927-936, 2020 | 38 | 2020 |
| AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss Q Guan, J Balciuniene, K Cao, Z Fan, S Biswas, A Wilkens, DJ Gallo, ... Genetics in Medicine 20 (12), 1600-1608, 2018 | 37 | 2018 |
| HIV protein sequence hotspots for crosstalk with host hub proteins M Sarmady, W Dampier, A Tozeren PLoS One 6 (8), e23293, 2011 | 37 | 2011 |
| A mutation update for the PCDH19 gene causing early‐onset epilepsy in females with an unusual expression pattern R Niazi, EA Fanning, C Depienne, M Sarmady, AN Abou Tayoun Human mutation 40 (3), 243-257, 2019 | 36 | 2019 |
| Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data KMD Gibson, A Nesbitt, K Cao, Z Yu, E Denenberg, E DeChene, Q Guan, ... Genetics in Medicine 20 (3), 329-336, 2018 | 35 | 2018 |
| Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers RV Sanghvi, CJ Buhay, BC Powell, EA Tsai, MO Dorschner, CS Hong, ... Genetics in Medicine 20 (8), 855-866, 2018 | 30 | 2018 |
| Development and validation of targeted next-generation sequencing panels for detection of germline variants in inherited diseases A Santani, J Murrell, B Funke, Z Yu, M Hegde, R Mao, ... Archives of Pathology and Laboratory Medicine 141 (6), 787-797, 2017 | 25 | 2017 |
Jeremy LeipzigTileDBVerified email at tiledb.com
