Research

Ayesha Ahmad, M.D.

Evaluation of long term outcomes and best practice guidelines for management of patients with inborn errors of metabolism; and outcomes of patients with metabolic diseases detected pre-symptomatically by newborn screening.

 

Mark Charles Hannibal, M.D., Ph.D.

Genetics of Kabuki Syndrome

 

Jeffrey W. Innis, M.D., Ph.D.

Morton S. and Henrietta L. Sellner Professor of Human Genetics
 Limb development, role of HOX genes in development.

 

Catherine E. Keegan, M.D., Ph.D.

Urogenital and caudal development, Telomere dysfunction and genomic instability.

 

Donna M. Martin, M.D., Ph.D.

Epigenetic Regulation of Mammalian Development. Autism/Intellectual Disability, and multiple congenital anomalies. Newborn screening and application of next generation sequencing for precision medicine.

Link to Martin Lab Website

 

Jess G. Thoene, M.D.

Role of aberrant apoptosis in causing the nephropathic phenotype in cystinosis.