Joshi Stephen
Staff Scientist at Baylor College Of Medicine
Based in Houston, United States
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Seniority
Staff
Department
Science
Location
Houston
Industry
Higher Education
Company size
14K
Contact information
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j•••••••@bcm.edu
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Background
About Joshi Stephen
I am scientist with seven years of experience in molecular genetics and understanding the basic mechanisms of human genetic disorders. My area of focus is on monogenic, rare and undiagnosed genetic diseases, with special interest in neurological disorders. During my past research career, I have come across over hundred families with rare genetic disorders and uncovered the genetic etiology in them using sequencing, exome analysis, homozygosity mapping and functional evaluation. I have got expertise in pedigree analysis, exome sequencing analysis, functional evaluation of pathogenic mutations and generation of CRISPR/Cas9 animal models.
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