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Office
1924 Alcoa Hwy
# Ut
Knoxville, TN 37920Phone+1 865-544-9030Fax+1 865-544-6675
Education & Training
- University of ConnecticutFellowship, Medical Genetics and Genomics, 1988 - 1991
- University of ConnecticutResidency, Pediatrics, 1985 - 1988
- New York Medical CollegeClass of 1985
Certifications & Licensure
- TN State Medical License 1991 - 2025
- American Board of Medical Genetics and Genomics Clinical Genetics
Publications & Presentations
PubMed
- 63 citationsCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku
Nature Communications. 2018-11-05 - 3 citationsDe novo loss-of-function variant in PTDSS1 is associated with developmental delay.Sara Gracie, Nivedita Sengupta, Carlos Ferreira, Joshua Pemberton, Ilse Anderson
American Journal of Medical Genetics. Part A. 2022-06-01 - 22 citationsVariants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.Erin Torti, Boris Keren, Elizabeth E. Palmer, Zehua Zhu, Alexandra Afenjar
Genetics in Medicine. 2019-02-11
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