Joel Charrow

  • 7005 Citations
1978 …2020

Research output per year

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Personal profile

Research Interests

I have been practicing at Children's for more than 35 years, and continue to be clinically active, direct the Biochemical Genetics Lab, teach genetics to medical students, residents and fellows, and conduct research on genetic disorders. Board certified in Pediatrics, Clinical Genetics, and Clinical Biochemical Genetics. Professor of Pediatrics, Northwestern University Feinberg School of Medicine. Division Head, Genetics, Birth Defects and Metabolism.

Tay-Sachs disease and other gangliosidoses. Delineating the relationship between genetic abnormalities and specific phenotypes, with emphasis on the natural history of genetic disorders. Methods and pitfalls in population screening for genetic disorders. Natural history of neurofibromatosis-1 during childhood. Natural history and treatment of Gaucher disease and other lysosomal storage diseases.

Care of patients with inborn errors of metabolism and lysosomal storage disorders, Skeletal dysplasias, and Neurofibromatosis. Director, Biochemical Genetics Lab. Medical Director, Cytogenetics Lab.

Certifications and Licenses

Clinical Biochemical Genetics
Clinical Genetics (MD)

Training Experience

1977Internship, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital)
1979Residency, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital)
1981Fellowship, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital)

Education/Academic qualification

MD, Mount Sinai School of Medicine

… → 1976

Research interests

  • Genetics: Medical
  • Metabolism
  • Neurofibromatosis

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Research Output

Newborn screening for pompe disease in Illinois: Experience with 684,290 infants

Burton, B. K., Charrow, J., Hoganson, G. E., Fleischer, J., Grange, D. K., Braddock, S. R., Hitchins, L., Hickey, R., Christensen, K. M., Groepper, D., Shryock, H., Smith, P., Shao, R. & Basheeruddin, K., 2020, In : International Journal of Neonatal Screening. 6, 1, ijns6010004.

Research output: Contribution to journalArticle

Open Access
  • 1 Scopus citations

    Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation

    Bryant, E. M., Millichap, J. J., Spinelli, E., Calhoun, J. D., Miller, C., Giannelli, J., Wolak, J., Sanders, V., Carvill, G. L. & Charrow, J., Jun 1 2020, In : American Journal of Medical Genetics, Part A. 182, 6, p. 1460-1465 6 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Undiagnosed Diseases Network, Care4Rare Canada Consortium, Jul 1 2020, In : Genetics in Medicine. 22, 7, p. 1215-1226 12 p.

    Research output: Contribution to journalArticle

  • Real-world effectiveness of eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry

    Mistry, P. K., Balwani, M., Charrow, J., Kishnani, P., Niederau, C., Underhill, L. H. & McClain, M. R., Sep 1 2020, In : American Journal of Hematology. 95, 9, p. 1038-1046 9 p.

    Research output: Contribution to journalArticle

    Open Access
  • Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

    Mistry, P. K., Balwani, M., Baris, H. N., Turkia, H. B., Burrow, T. A., Charrow, J., Cox, G. F., Danda, S., Dragosky, M., Drelichman, G., El-Beshlawy, A., Fraga, C., Freisens, S., Gaemers, S., Hadjiev, E., Kishnani, P. S., Lukina, E., Maison-Blanche, P., Martins, A. M., Pastores, G. & 6 others, Petakov, M., Peterschmitt, M. J., Rosenbaum, H., Rosenbloom, B., Underhill, L. H. & Cox, T. M., Jul 2019, In : Blood Cells, Molecules, and Diseases. 77, p. 101-102 2 p.

    Research output: Contribution to journalLetter

    1 Scopus citations