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Mahdi Sarmady
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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
19392013
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
8362015
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
4422013
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
1152017
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
1082015
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
812020
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
582019
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
522019
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
322018
HIV protein sequence hotspots for crosstalk with host hub proteins
M Sarmady, W Dampier, A Tozeren
PLoS One 6 (8), e23293, 2011
322011
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
312015
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
302018
Evaluation of part of speech tagging on Persian text
F Raja, H Amiri, S Tasharofi, M Sarmadi, H Hojjat, F Oroumchian
302007
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
292019
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
262020
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
252019
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
242018
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
222018
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
202020
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
202017
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