Mahdi Sarmady, PhD

faculty photo
Assistant Professor of Clinical Pathology and Laboratory Medicine
Department: Pathology and Laboratory Medicine

Contact information
3615 Civic Center Blvd
Abramson Pediatrics Research Center
Room 710A
Philadelphia, PA 19104
Office: 267-426-1373
Education:
BSc (Computer Engineering)
University of Tehran, 2005.
MSc (Software Engineering)
University of Tehran, 2007.
PhD (Bioinformatics)
Drexel University, 2010.
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Description of Clinical Expertise

Clinical Bioinformatics, Genomic Diagnostics

Description of Research Expertise

Genome Informatics, Bioinformatics, Genomic Diagnostics

Selected Publications

Wu C, Zhao X, Welsh M, Costello K, Cao K, Tayoun A, Li M, Sarmady M: Using machine learning to identify true somatic variants from next-generation sequencing. Clinical Chemistry Jan 2020.

Rentas S, Rathi K, Kaur M, Raman P, Krantz I, Sarmady M*, Abou Tayoun A*: Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA-sequencing. Genetics in Medicine Jan 2020.

RentasS , Rathi K, Kaur M, Raman P, Krantz ID, Sarmady M*, Tayoun A*: Utilizing RNA sequencing for the diagnosis of unsolved cases of Cornelia de Lange syndrome and related neurodevelopmental disorders. American Society of Human Genetics Oct 2019 Notes: Platform Presentation.

Zhao M, Fang L, Chen Y, Liu C, Sarmady M, Botas P, Isla J, Lyon G, Weng C, Wang K: Phen2Gene: Rapid phenotype-driven gene prioritization for rare diseases using human phenotype ontology terms. American Society of Human Genetics Oct 2019.

Evans Perry, Wu Chao, Lindy Amanda, McKnight Dianalee A, Lebo Matthew, Sarmady Mahdi, Abou Tayoun Ahmad N: Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets. Genome research 29(7): 1144-1151, July 2019.

Raman Pichai, Zimmerman Samuel, Rathi Komal S, de Torrenté Laurence, Sarmady Mahdi, Wu Chao, Leipzig Jeremy, Taylor Deanne M, Tozeren Aydin, Mar Jessica C: A comparison of survival analysis methods for cancer gene expression RNA-Sequencing data. Cancer genetics 235-236: 1-12, Jun 2019.

Surrey Lea F, MacFarland Suzanne P, Chang Fengqi, Cao Kajia, Rathi Komal S, Akgumus Gozde T, Gallo Daniel, Lin Fumin, Gleason Adam, Raman Pichai, Aplenc Richard, Bagatell Rochelle, Minturn Jane, Mosse Yael, Santi Mariarita, Tasian Sarah K, Waanders Angela J, Sarmady Mahdi, Maris John M, Hunger Stephen P, Li Marilyn M: Clinical utility of custom-designed NGS panel testing in pediatric tumors. Genome medicine 11(1): 32, May 2019.

Balciuniene J, DeChene ET, Akgumus G, Romasko EJ, Cao K, Dubbs HA, Mulchandani S, Spinner NB, Conlin LK, Marsh ED, Goldberg E, Helbig I, Sarmady M, Abou Tayoun A: Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy. JAMA Network Open Apr 2019.

Niazi Rojeen, Fanning Elizabeth A, Depienne Christel, Sarmady Mahdi, Abou Tayoun Ahmad N: A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern. Human mutation 40(3): 243-257, Mar 2019.

Chao Wu, Batsal Devkota, Xiaonan Zhao,Baker S, Niazi R, Cao K, Gonzalez MA, Jayaraman P, Conlin LK, Krock LB, Deardorff MA, Spinner NB, Krantz ID, Santani AB, Abou Tayoun A, Sarmady M: Rapid and Accurate Interpretation of Clinical Exomes Using Phenoxome: a Computational Phenotype-driven Approach. European Journal of Human Genetics Jan 2019.

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Last updated: 02/11/2020
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