Sarah Dean

Sarah Dean
Assistant Professor

Assistant Professor (P), Clinical Genetics , Genetics

Selected Publications

Academic Article

Year	Title	Altmetric
2021	Repeatedly in rhabdomyolysis. Pediatric Emergency Care. 37:E1759-E1760. 2021
2021	Treatment of ARS deficiencies with specific amino acids. Genetics in Medicine. 23:2202-2207. 2021
2021	Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Molecular Genetics and Genomic Medicine. 9. 2021
2020	Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Science Advances. 6. 2020
2020	Simultaneous osteosarcoma and renal cell carcinoma with BRCA1 mutation in a young male adult with prior oligodendroglioma. Pediatric Blood and Cancer. 67. 2020
2017	Pediatric cancer genetics. Current Opinion in Pediatrics. 29:629-633. 2017

Principal Investigator On

ADPH - Civitan Sparks UAB Metabolic Team Project To Provide Medical Food/Formula To Residents In Need With Inherited Disorders Of Metabolism awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH

ADPH - Civitan Sparks UAB Metabolic Team Project to Provide Medical Food/Formula to Residents in Need with Inherited Disorders of Metabolism awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH

Alabama Newborn Screening Program (ANSP) awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH

Alabama Newborn Screening Program (ANSP) awarded by ALABAMA DEPARTMENT OF PUBLIC HEALTH

Private Grant awarded by ORPHAZYME US INC

Investigator On

Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants awarded by Brigham and Women's Hospital

Private Grant awarded by ORPHAZYME US INC

Education And Training

Doctor of Medicine, Medical University of South Carolina 2013

Full Name

Sarah Dean