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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
Neurogenetics

 

 

 

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