Residency · Pittsburgh, PA
Sponsored by UPMC Medical Education
Assistant Program Director for the UPMC Medical Genetics and Genomic Training Program
Clinical genetics and genomics physician, Assistant Professor of Pediatrics at Univ of Pittsburgh Sch of Med
Assistant Program Director, Medical Genetics Fellowship
Clinical cytogenetics physician, Associate Professor of Pediatrics at UPMC Medical Education
Implementation of whole exome and whole genome sequencing into clinical practice (multiple collaborators), Psychiatric manifestations of Chromosome 22q deletion syndrome (collaborator Maria Jalbrzikowski), Disorders of sterol metabolism national collaborative group: Site Investigator
Program Director, Clinical Genetics and Genomics Residency
Clinical genetics and genomics physician, Assistant Professor of Pediatrics at UPMC Medical Education
Lysosomal storage disorders, Registry, Rare disease, Genetic disorder
Chief, Division of Genetic and Genomic Medicine
Clinical biochemical/molecular genetics physician, Division Director at Univ of Pittsburgh Sch of Med
Fatty Acid Oxidation, Inborn Errors of Metabolism, Genomic Medicine, Newborn Screening
Research Professor of Pediatrics
Research Professor at Univ of Pittsburgh Sch of Med
Therapies for disorders of mitochondrial fatty acids b-oxidation; related to my R21 grant above, Therapies for disorders of branched chain amino acids, Shutting down FAO as a new therapeutic strategy for cancer and infectious diseases, Inhibitor based chaperone therapy for metabolic disorders including galactosemia and PKU
Associate Professor of Pediatrics
Pediatrician, Associate Professor of Pediatrics at Univ of Pittsburgh Sch of Med
Drosophila, Relationship between reproduction and aging, Aging, Reproduction
Assistant Professor of Pediatrics
Clinical genetics and genomics physician, Assistant Professor of Pediatrics at UPMC Medical Education
Telegenetics, Telemedicine
Distinguished Professor and F. Sargent Cheever Chair of Developmental Biology
Distinguished Professor and F. Sargent Cheever Chair of Developmental Biology at Univ of Pittsburgh Sch of Med
Cardiac development and congenital heart diseases, Congenital heart disease, Genetics, Genomics
Associate Professor of Pediatrics
Pediatric medicine physician, Associate Professor of Pediatrics at Univ of Pittsburgh Sch of Med
Research Assistant Professor
Emergency Medicine resident, Mayo Clinic College of Medicine and Science
Professor of Pediatrics
Pediatrician, Professor of Pediatrics at Univ of Pittsburgh Sch of Med
Role of Brown Fat in the Pathogenesis of Fatty Acid Oxidation Disorders, Regulation of Fatty Acid Oxidation in Adipose Tissues, Regulation of Fatty Acid Oxidation by Reversible Lysine Acetylation, Metabolism
Assistant Professor of Pediatrics
Clinical genetics and genomics physician, Assistant Professor of Pediatrics at UPMC Medical Education
Associate Professor of Pediatrics
Clinical biochemical genetics physician, Associate Professor of Pediatrics at Univ of Pittsburgh Sch of Med
Assistant Professor of Pediatrics
Clinical genetics and genomics physician, Assistant Professor of Pediatrics and Medical Genetics at UPMC Medical Education
K08HG010490, Precision Genomic Medicine in The Plain Communities and its Impact on The Plain and General Population, 2019-2024., Samuel and Emma Winters Foundation, Identification and characterization of TANGO2 protein and its interactions with other proteins, 2023-2024., 1R01HL161045-01A1, The methyltransferase Smyd1 regulates cardiac physiology, 2023-2025., Genetics
Associate Professor of Pediatrics
Cardiologist, Associate Professor of Pediatrics at Univ of Pittsburgh Sch of Med
Heart failure signaling
Assistant Professor
Family physician, Assistant Professor at Univ of Pittsburgh Sch of Med
Genetics, Genomics, Precision Medicine, Pharmacogenomics
Professor of Pediatrics
Professor of Pediatrics at Univ of Pittsburgh Sch of Med
Prader-Willi Syndrome, Gene therapy, Genome editing, Pancreatice beta-cell model
Research Assistant Professor
Research Assistant Professor at Univ of Pittsburgh Sch of Med
CFTR, Protein Misfolding, CRISPR-CAS, Auophagy
Professor of Pediatrics
Clinical biochemical genetics physician, Professor of Pediatrics at UPMC Medical Education
The pathophysiology of the brain damage caused by inborn errors of metabolism and, neuroprotective treatments that can prevent that damage, The cause of ADD/ADHD in inborn errors of metabolism, The cause of renal failure in patients with renal Fanconi syndrome
Research Associate Professor of Pediatrics
Research Associate Professor of Pediatrics at Univ of Pittsburgh Sch of Med
Fatty Acid Oxidation, Mitochondrial disorders, Fatty Acid oxidation disorders, Mitochondria
