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Office
2300 Childrens Plaza
Chicago, IL 60614Phone+1 773-880-4462Fax+1 773-929-9565
Education & Training
- McGaw Medical Center of Northwestern UniversityResidency, Pediatrics, 1973 - 1975
- Northwestern University The Feinberg School of MedicineClass of 1973
Certifications & Licensure
- IL State Medical License 1975 - 2026
- NC State Medical License 1977 - 1990
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Super Doctor SuperDoctors.com
- Top MD Consumers Checkbook
Clinical Trials
- Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Start of enrollment: 2010 Dec 01
- An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Start of enrollment: 2013 May 01
- A Study of UX007 (Triheptanoin) in Participants With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Start of enrollment: 2014 Feb 06
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Publications & Presentations
PubMed
- 3 citationsPegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.Cary O Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh
Molecular Genetics and Metabolism Reports. 2024-06-01 - 183 citationsMutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signalingLot Snijders Blok, Erik C. Madsen, Jane Juusola, Christian Gilissen, Diana Baralle
American Journal of Human Genetics. 2015-08-06 - 210 citationsMolecular and clinical genetics of mitochondrial diseases due to POLG mutationsLee-Jun C. Wong, Robert K. Naviaux, Nicola Brunetti-Pierri, Qing Zhang, Eric S. Schmitt
Human Mutation. 2008-09-01
Journal Articles
- TANGO2: Expanding the Clinical Phenotype and Spectrum of Pathogenic VariantsJennifer N Dines, Heather C Mefford, Barbara Burton, Joline Dalton, Alice Basinger, Peter Karachunski, Can Ficicioglu, Katherine L Helbig, Nature
Press Mentions
- ‘We Have a Healthy Child:’ Eau Claire Couple Says Their Son Is Living Proof of the Need for Rare Disease ScreeningFebruary 16th, 2020
- ‘What’s Wrong with My Son?’ Wisconsin Rejects $4 Test for Rare, Terminal DiseaseJanuary 22nd, 2020
- 10 Years After Law Passed, Illinois Finally Ready to Test Newborns for Devastating DiseaseDecember 1st, 2017
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