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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
- Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.Agustin Hidalgo-Gutierrez, Jonathan Shintaku, Javier Ramon, Eliana Barriocanal-Casado, Alba Pesini
Annals of Neurology. 2024-12-01 - 1 citationsNOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset ...Olena Korvatska, Stephanie A Bucks, Rebecca A Yoda, Amber Nolan, Michael O Dorschner
Journal of the Neurological Sciences. 2023-09-15 - 2 citationsHomozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body-like Pathology in Parrots.Oswaldo Lorenzo-Betancor, Livio Galosi, Laura Bonfili, Anna Maria Eleuteri, Valentina Cecarini
Movement Disorders. 2022-12-01
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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