Genetics

Dedicated to improving healthcare for children in Northeast Tennessee and the surrounding Appalachian Region

 

Photo of Alvaro H. Serrano, MD

Alvaro H. Serrano, MD

Professor

EDUCATION

Fellowships: Medical Genetics, University of Pittsburgh Children's Hospital, Magee Women's Hospital, Pittsburgh, Pennsylvania
Clinical Biochemical Genetics, University of Pittsburgh Medical Center, Children's Hospital Hillman Cancer Center, Pittsburgh, Pennsylvania
Residency: Pediatrics, Saint Barnabas Hospital Bronx, New York
Medical School: Military University Nueva Granada, Central Military Hospital, Bogota, Colombia, South America

LICENSURE & CERTIFICATIONS

American Board of Pediatrics
American Board of Medical Genetics
Tennessee State Medical License

MEMBERSHIPS

Society of Inherited Metabolic Disease
Mitochondrial Global Network

SELECTED PRESENTATIONS

Serrano Russi A. "Clinical follow up of a patient affected with GFM1 mitochondrial elongation factor deficiency" Mitochondrial Medicine Scientific Meeting at Washington DC; June 26-29; 2019

Serrano Russi A. Poster: Report of another case of congenital disorder of glycosylation-MPI undergoing successful liver transplantation. SIMD annual meeting. Seattle; April 6-9; 2019

Serrano Russi A. Poster. "Liver transplantation for ETHE1 related ethylmalonic encephalopathy" SIMD annual meeting. Seattle; April 6-9; 2019

Serrano Russi A. Cobalamin C deficiency patient with severe developmental delay found to have a co-existing novel variant in KMT2D"  SIMD annual meeting. Seattle; April 6-9; 2019

Serrano Russi A. Poster: FARS2 VARIANTS FOUND IN A BOY WITH RECURRENT KETOACIDOSIS AND DIPLEGIC CEREBRAL PALSY.  SIMD annual meeting. San Diego California; March 2018

SELECTED PUBLICATIONS

Ng, B. G., Eklund, E. A., Shiryaev, S. A., Dong, Y. Y., Abbott, M. A., Asteggiano, C., ... & Freeze, H. H. (2020). Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. Journal of inherited metabolic disease, 43(6), 1333-1348.

Ferreira, C. R., Zein, W. M., Huryn, L. A., Merker, A., Berger, S. I., Wilson, W. G., ... & Bober, M. B. (2020). Defining the clinical phenotype of Saul–Wilson syndrome. Genetics in Medicine, 22(5), 857-866.

Ferreira, C. R., Xia, Z. J., Clément, A., Parry, D. A., Davids, M., Taylan, F., ... & Freeze, H. H. (2018). A recurrent de novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation. The American Journal of Human Genetics, 103(4), 553-567.

Fu, X., Karimov, C., Randolph, L. M., & Russi, A. S. (2018). 8-Month-Old Boy with Ataxia after Ingestion of Cow's Milk. Clinical Chemistry, 64(3), 611-613.