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Office
Seattle children's hospital
Seattle, WA 98145- Is this information wrong?
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
- De 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, Austin Sekula, Hua Gao, Joseph T Alaimo, Kendra Engleman, Eric T Rush, Karli Block...> ;American Journal of Human Genetics. 2024 Apr 4
- Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.Mitchell R Vollger, Jonas Korlach, Kiara C Eldred, Elliott Swanson, Jason G Underwood, Yong-Han H Cheng, Jane Ranchalis, Yizi Mao, Elizabeth E Blue, Ulrike Schwarze, K...> ;Biorxiv. 2023 Sep 27
- 3 citationsThe contribution of mosaicism to genetic diseases and de novo pathogenic variants.Lisa Bastarache, Kimberly Ezell, Shilpa Nadimpalli Kobren, Cecilia Esteves, Jill A Rosenfeld, Ellen F Macnamara, Rizwan Hamid, Joy D Cogan, David Rinker, Souhrid Mukha...> ;American Journal of Medical Genetics. Part A. 2023 Oct 1
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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
Hospital Affiliations
- Seattle Children's HospitalSeattle, Washington
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