Grants per year
Personal profile
Research Interests
I am primarily interested in the diagnosis and treatment of patients with inherited metabolic disorders and in clinical trials of new therapies for rare disorders. I have particular interest and expertise in disorders diagnosed through newborn screening (phenylketonuria and others) and in lysosomal storage disorders.
Certifications and Licenses
| Clinical Biochemical Genetics | |
| Pediatrics | |
| Clinical Genetics (MD) |
Training Experience
| 1975 | Residency, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital) |
| 1977 | Fellowship, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital) |
Education/Academic qualification
Medicine, MD, Northwestern University
… → 1973
Research interests keywords
- Genetic Testing/Counseling
- Genetics: Medical
- Metabolism
- Neurogenetics
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Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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BioMarin 307-902: A Prospective ClinicalObservational Study of Phenylketonuria (PKU)
11/4/19 → 8/30/50
Project: Research project
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Mucopolysaccharidosis VII Disease Monitoring Program (MPS VII DMP)
Ultragenyx Pharmaceutical Inc.
8/22/19 → 8/31/50
Project: Research project
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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
Snijders Blok, L., Verseput, J., Rots, D., Venselaar, H., Innes, A. M., Stumpel, C., Õunap, K., Reinson, K., Seaby, E. G., McKee, S., Burton, B., Kim, K., van Hagen, J. M., Waisfisz, Q., Joset, P., Steindl, K., Rauch, A., Li, D., Zackai, E. H., Sheppard, S. E., & 29 others, Jan 12 2023, In: Human Genetics and Genomics Advances. 4, 1, 100157.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5
Happ, H. C., Sadleir, L. G., Zemel, M., De Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., McDonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D., Linhares, N. D., & 35 others, Feb 7 2023, In: Neurology. 100, 6, p. E603-E615Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II
Herbst, Z. M., Urdaneta, L., Klein, T., Burton, B. K., Basheeruddin, K., Liao, H. C., Fuller, M. & Gelb, M. H., Mar 2022, In: International Journal of Neonatal Screening. 8, 1, 9.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa
Mitchell, J. J., Burton, B. K., Bober, M. B., Campeau, P. M., Cohen, S., Dosenovic, S., Ellaway, C., Bhattacharya, K., Guffon, N., Hinds, D., Lail, A., Lin, S. P., Magner, M., Raiman, J., Schwartz-Sagi, L. & Stepien, K. M., Sep 1 2022, In: Molecular Genetics and Metabolism. 137, 1-2, p. 164-172 9 p.Research output: Contribution to journal › Article › peer-review
Open Access -
First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B
Harmatz, P., Prada, C. E., Burton, B. K., Lau, H., Kessler, C. M., Cao, L., Falaleeva, M., Villegas, A. G., Zeitler, J., Meyer, K., Miller, W., Wong Po Foo, C., Vaidya, S., Swenson, W., Shiue, L. H., Rouy, D. & Muenzer, J., Dec 7 2022, In: Molecular Therapy. 30, 12, p. 3587-3600 14 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations