Researchers | Overview
Pankaj Agrawal, MD, MMSc
Congenital myopathies; newborn medicine
Alan Beggs, PhD
Genetics of congenital myopathies; Director, Manton Center for Orphan Disease Research
Gerard Berry, MD
Galactosemia, metabolic disorders; Director, Metabolism Program
Olaf Bodamer, MD, PhD, FACMG, FAAP
Lysosomal storage disorders, newborn screening and genetics of prematurity; Associate Chief, Division of Genetics and Genomics
Hanna Gazda, MD, PhD
Genetics and pathogenesis of Diamond-Blackfan anemia
Emanuela Gussoni, PhD
Cell-based therapy for muscular dystrophy
Maxwell Heiman, PhD
The genetic basis of neuronal shape and connectivity
Ingrid Holm, MD, MPH
Endocrine genetics; genetics of complex pediatric diseases (autism, sudden infant death syndrome, sudden unexplained death in childhood); returning genetic results to patients; Director, Phenotyping Core
Louis Kunkel, PhD
Genetics of muscular dystrophies, autism and interstitial cystitis
Harvey Levy, MD
Newborn screening for metabolic disorders; phenylketonuria; urea cycle disorders
Kyriacos Markianos, PhD
Genetic studies in humans and model organisms
David Miller, MD, PhD
Genetics of autism spectrum disorder, neurofibromatosis and progeroid laminopathies
Ganesh Mochida, MD
Neurogenetics
Edward Neilan, MD, PhD
Cockayne syndrome
Jonathan Picker, MBChB, PhD
Neurogenetics of behavioral disorders including schizophrenia and Fragile X syndrome
Amy Roberts, MD
Genetics of congenital heart disease; Director, Cardiovascular Genetics Research Program
Wen-Hann Tan, BMBS
Angelman syndrome
Christopher Walsh, MD, PhD
Genetics of the developing cortex, autism and microcephaly; Chief, Division of Genetics and Genomics
Tim Yu, MD, PhD
Genetics of autism, cortical malformations
Affiliated researchers
Elizabeth Engle, MD
Genetics of congenital eye-movement disorders
Joel Hirschhorn, MD, PhD
Genetics of obesity, height and other complex traits and diseases
Isaac Kohane, MD, PhD
Bioinformatics; Chair, Informatics Program