ShashidharPaiMD
Medical Genetics • Charleston, SCClinical Cytogenetics, Clinical Genetics, Pediatric Medical Genetics
Professor and Division Chief
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Office
171 Ashley Ave
Charleston, SC 29425Phone+1 843-792-1414Fax+1 843-876-1518
Education & Training
Mysore Medical CollegeClass of 1971
Henry Ford Hospital/Wayne State UniversityResidency, Pediatrics
Certifications & Licensure
SC State Medical License 1981 - 2025
MI State Medical License 1976 - 1996
MD State Medical License 1977 - 1983- American Board of Medical Genetics and Genomics Clinical Cytogenetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Publications & Presentations
PubMed
- 55 citationsGenotype–phenotype correlation in CC2D2A -related Joubert syndrome reveals an association with ventriculomegaly and seizuresRuxandra Bachmann-Gagescu, Gisele E. Ishak, Jennifer C. Dempsey, Jonathan Adkins, Diana R. O’Day
Journal of Medical Genetics. 2012-02-01 - 151 citationsRecurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28Michael J. Friez, Julie R. Jones, Katie Clarkson, Herbert A. Lubs, Dianne N. Abuelo
Pediatrics. 2006-12-01 - 99 citationsInactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype CorrelationBirgitt Schüle, Angelica Oviedo, Kathreen Johnston, Shashidhar Pai, Uta Francke
American Journal of Human Genetics. 2005-12-01
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