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Office
125 Gregor Mendel Cir
Greenwood, SC 29646Phone+1 864-941-8100
Summary
- Dr. Michael Friez, MD is a board certified medical geneticist in Greenwood, South Carolina.
Certifications & Licensure
- American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
Publications & Presentations
PubMed
- 623 citationsACMG clinical laboratory standards for next-generation sequencing.Heidi L. Rehm, Sherri J. Bale, Pinar Bayrak-Toydemir, Jonathan S. Berg, Kerry K. Brown
Genetics in Medicine. 2013-07-25 - 38 citationsDe Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, Ivana A Souza, Candace T Myers
American Journal of Human Genetics. 2018-11-01 - 247 citationsA previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.Gevork N. Mnatzakanian, Hannes Lohi, I. Munteanu, Simon E. Alfred, Takahiro Yamada
Nature Genetics. 2004-03-21
Press Mentions
Dr. Roger E. Stevenson Receives Rimoin Lifetime Achievement Award from ACMG FoundationApril 3rd, 2019
