Research

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Labs & Researchers

Pankaj 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, MD
Galactosemia, metabolic disorders; Director, Metabolism Program






Olaf Bodamer MD PhDOlaf 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





Vandana Gupta, PhD
Congenital myopathies

Emanuela 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 LevyHarvey Levy, MD
Newborn screening for metabolic disorders; phenylketonuria; urea cycle disorders





Kyriacos Markianos, PhD
Genetic studies in humans and model organisms





David Miller MD PhDDavid 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, MDAmy Roberts, MD
Genetics of congenital heart disease; Director, Cardiovascular Genetics Research Program





Wen-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 MDTim 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

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