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7144 13th Pl NWWashington, DC 20012
Phone+1 504-390-5512
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Summary
- Dr. Srirangan Sampath, MD is a board certified medical geneticist in Washington, District of Columbia.
Certifications & Licensure
American Board of Medical Genetics and Genomics Clinical Cytogenetics and Genomics
Publications & Presentations
PubMed
- 7 citationsHomozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay,...Jehan Suleiman, Korbinian M. Riedhammer, Timothy Jicinsky, Melinda Mundt, Laurie Werner
Human Mutation. 2019-06-17 - 2 citationsNeonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inher...Kirsten Wood, Regina M. Zambrano, Bradley J. Cheek, Christopher Arcement, Marie Haymon
Clinical Case Reports. 2017-02-24 - 11 citationsMild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B. Wortmann, Margaret A. Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad
Journal of Inherited Metabolic Disease. 2017-02-15
