Current Environment:

Researchers | Overview

Pankaj Agrawal, MDPankaj Agrawal, MD, MMSc
Congenital myopathies; newborn medicine


Alan Beggs, PhDAlan Beggs, PhD
Genetics of congenital myopathies; Director, Manton Center for Orphan Disease Research


Gerard Berry, MDGerard 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, PhDEmanuela Gussoni, PhD
Cell-based therapy for muscular dystrophy


Maxwell Heiman, PhD
The genetic basis of neuronal shape and connectivity 


Ingrid Holm, MD, MPHIngrid 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, PhDLouis Kunkel, PhD
Genetics of muscular dystrophies, autism and interstitial cystitis


Harvey Levy, MDHarvey Levy, MD
Newborn screening for metabolic disorders; phenylketonuria; urea cycle disorders


Kyriacos Markianos, PhD
Genetic studies in humans and model organisms


David T. Miller, MD, PhDDavid Miller, MD, PhD
Genetics of autism spectrum disorder, neurofibromatosis and progeroid laminopathies


Ganeshwaran Mochida, MDGanesh Mochida, MD




Edward Neilan, MD, PhD
Cockayne syndrome


Jonathan Picker, MD, PhDJonathan Picker, MBChB, PhD
Neurogenetics of behavioral disorders including schizophrenia and Fragile X syndrome


Amy Roberts, MDAmy Roberts, MD
Genetics of congenital heart disease; Director, Cardiovascular Genetics Research Program


Wen-Hann Tan, BMBSWen-Hann Tan, BMBS
Angelman syndrome




Christopher Walsh, MD, PhDChristopher Walsh, MD, PhD
Genetics of the developing cortex, autism and microcephaly; Chief, Division of Genetics and Genomics


Timothy Yu, MD, PhDTim Yu, MD, PhD
Genetics of autism, cortical malformations


Affiliated researchers

Elizabeth Engle, MDElizabeth Engle, MD
Genetics of congenital eye-movement disorders


Joes Hirschornn, MD, PhDJoel Hirschhorn, MD, PhD
Genetics of obesity, height and other complex traits and diseases


Isaac Kohane, MD, PhD
Bioinformatics; Chair, Informatics Program