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Office
1959 NE Pacific St
# Hsc
Seattle, WA 98195Phone+1 206-310-5381
Certifications & Licensure
- American Board of Medical Genetics and Genomics Clinical Molecular Genetics
Publications & Presentations
PubMed
- 42 citationsDiagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis.Michael O. Dorschner, Deborah Barden, Karen Stephens
The Journal of Molecular Diagnostics. 2002-05-01 - 3809 citationsIdentification and analysis of functional elements in 1% of the human genome by the ENCODE pilot projectEwan Birney, John A. Stamatoyannopoulos, Anindya Dutta, Roderic Guigó, Thomas R. Gingeras
Nature. 2007-06-14 - 41 citationsVariant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.Laura M. Amendola, Kathleen Muenzen, Leslie G. Biesecker, Kevin M. Bowling, Greg M. Cooper
American Journal of Human Genetics. 2020-11-05
Journal Articles
- Rare Loss of Function Variants in Candidate Genes and Risk of Colorectal CancerMichael O Dorschner, Gail P Jarvik, Brian H Shirts, Deborah A Nickerson, Fuki M Hisama, Laura M Amendola, Robin L Bennett, Human Genetics
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