Mahdi Sarmady

Mahdi Sarmady

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Mahdi Sarmady

Mahdi Sarmady

Publications by authors named "Mahdi Sarmady"

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26Publications

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Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.

Genet Med 2020 Jan 8. Epub 2020 Jan 8.

Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, UAE.

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http://dx.doi.org/10.1038/s41436-019-0741-5DOI Listing
January 2020

Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing.

Clin Chem 2019 Oct 31. Epub 2019 Oct 31.

Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA;

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http://dx.doi.org/10.1373/clinchem.2019.308213DOI Listing
October 2019

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets.

Genome Res 2019 07 24;29(7):1144-1151. Epub 2019 Jun 24.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1101/gr.240994.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633260PMC
July 2019

A comparison of survival analysis methods for cancer gene expression RNA-Sequencing data.

Cancer Genet 2019 06 12;235-236:1-12. Epub 2019 Apr 12.

Department of Systems and Computational Biology, Albert Einstein College of Medicine, Bronx, NY, United States; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, United States; Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2019.04.004DOI Listing
June 2019

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

JAMA Netw Open 2019 04 5;2(4):e192129. Epub 2019 Apr 5.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1001/jamanetworkopen.2019.2129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481455PMC
April 2019

A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.

Hum Mutat 2019 03 10;40(3):243-257. Epub 2019 Jan 10.

Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.

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http://doi.wiley.com/10.1002/humu.23701
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http://dx.doi.org/10.1002/humu.23701DOI Listing
March 2019

AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.

Genet Med 2018 12 29;20(12):1600-1608. Epub 2018 Mar 29.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2018.48DOI Listing
December 2018

Need for Automated Interactive Genomic Interpretation and Ongoing Reanalysis.

JAMA Pediatr 2018 12;172(12):1113-1114

Department of Genetics, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.

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http://archpedi.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamapediatrics.2018.2675DOI Listing
December 2018

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel.

J Mol Diagn 2018 09 22;20(5):643-652. Epub 2018 Jun 22.

Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; Genetics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.05.003DOI Listing
September 2018

Transcriptome analysis of IL-10-stimulated (M2c) macrophages by next-generation sequencing.

Immunobiology 2017 07 20;222(7):847-856. Epub 2017 Feb 20.

School of Biomedical Engineering, Science and Health Systems, Drexel University, 3141 Chestnut Street, Philadelphia, PA, 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.imbio.2017.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5719494PMC
July 2017

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

Genet Med 2017 05 22;19(5):496-504. Epub 2016 Sep 22.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2016.134DOI Listing
May 2017

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.

Am J Med Genet A 2015 Nov 25;167A(11):2548-54. Epub 2015 Jun 25.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37221DOI Listing
November 2015

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.

Gastroenterology 2015 Nov 17;149(6):1415-24. Epub 2015 Jul 17.

Division of Human Genetics, The Children's Hospital of Philadelphia; Department of Pediatrics, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania; Department of Molecular Medicine, University Sapienza, Rome, Italy.

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http://dx.doi.org/10.1053/j.gastro.2015.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853027PMC
November 2015

mtDNA Variation and Analysis Using Mitomap and Mitomaster.

Curr Protoc Bioinformatics 2013 Dec;44:1.23.1-26

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA; Department of Pathology and Laboratory Medicine; University of Pennsylvania, Philadelphia, PA; phone: 1-267-425-3078; fax: 1-267-426-0978.

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http://dx.doi.org/10.1002/0471250953.bi0123s44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4257604PMC
December 2013

HIV protein sequence hotspots for crosstalk with host hub proteins.

PLoS One 2011 15;6(8):e23293. Epub 2011 Aug 15.

Center for Integrated Bioinformatics, Drexel University, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0023293PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156123PMC
February 2012

Sequence- and interactome-based prediction of viral protein hotspots targeting host proteins: a case study for HIV Nef.

PLoS One 2011 28;6(6):e20735. Epub 2011 Jun 28.

Center for Integrated Bioinformatics, School of Biomedical Engineering, Science, and Health Systems, Drexel University, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0020735PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3125164PMC
December 2011