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Office
2211 Lomas Blvd NE
Albuquerque, NM 87106Phone+1 505-272-4107
Education & Training
- Los Angeles County-Harbor-UCLA Medical CenterResidency, Pediatrics, 1974 - 1978
- Los Angeles County-Harbor-UCLA Medical CenterInternship, Transitional Year, 1973 - 1974
- Washington University in St. Louis School of MedicineClass of 1973
Certifications & Licensure
- CA State Medical License 1975 - Present
- NM State Medical License 1986 - 2027
- AZ State Medical License 1978 - 2026
- IL State Medical License 1983 - 1987
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Cytogenetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Top Doctors:Arizona State Castle Connolly, 2013
Publications & Presentations
PubMed
- 6 citationsATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.Kari A Mattison, Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M Butler
Brain. 2023-04-19 - 15 citationsAlternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.David A. Dyment, Anne H. O’Donnell-Luria, Pankaj B. Agrawal, Zeynep Coban Akdemir, Kyrieckos A. Aleck
American Journal of Medical Genetics. Part A. 2021-01-01 - 75 citationsBiallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo
American Journal of Human Genetics. 2016-09-01
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