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Office
4800 Sand Point Way NE
# OC9.850
Seattle, WA 98105Phone+1 206-987-2056Fax+1 206-987-2495
Education & Training
- Cedars-Sinai Medical CenterResidency, Medical Genetics and Genomics, 1998 - 2001
- UCLA David Geffen School of Medicine/UCLA Medical CenterResidency, Pediatrics, 1995 - 1998
- Indiana University School of MedicineClass of 1995
Certifications & Licensure
- ID State Medical License 2018 - 2025
- WA State Medical License 2016 - 2025
- CA State Medical License 1997 - 2024
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 1 citationsExpanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.Marie Morimoto, Eunjin Ryu, Benjamin J Steger, Abhijit Dixit, Yoshihiko Saito
American Journal of Human Genetics. 2024-09-05 - 1 citationsDe novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton
American Journal of Human Genetics. 2024-04-04 - 5 citationsThe contribution of mosaicism to genetic diseases and de novo pathogenic variants.Rory J Tinker, Lisa Bastarache, Kimberly Ezell, Shilpa Nadimpalli Kobren, Cecilia Esteves
American Journal of Medical Genetics. Part A. 2023-10-01
Press Mentions
- The NIH Undiagnosed Diseases Network ExpandsSeptember 24th, 2018
- UCLA Awarded $7 Million to Unravel Mystery Genetic DiseasesFebruary 12th, 2016
Grant Support
- Glycerol Kinase Deficiency As A Model To Understand Met*National Institute Of General Medical Sciences2004–2005
- Molecular Mechanisms Of Glycerol Kinase DeficiencyNational Institute Of Diabetes And Digestive And Kidney Diseases2001–2005
- Glycerol Kinase Deficiency To Study Metabolic DiseasesNational Institute Of General Medical Sciences2003
- BiochemistryNational Institute On Alcohol Abuse And Alcoholism1990–1994
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