|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
|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
|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
|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
|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
|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
|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), 1-14, 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
|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
|HIV protein sequence hotspots for crosstalk with host hub proteins|
M Sarmady, W Dampier, A Tozeren
PLoS One 6 (8), e23293, 2011
|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
|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
|Evaluation of part of speech tagging on Persian text|
F Raja, H Amiri, S Tasharofi, M Sarmadi, H Hojjat, F Oroumchian
|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
|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
|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
|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
|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
|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
|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