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Office
A.I. Dupont Hospital For Children
1600 Rockland Road
Wilmington, DE 19803Phone+1 302-651-5916Fax+1 302-651-5033
Education & Training
- Johns Hopkins UniversityResidency, Medical Genetics and Genomics, 1998 - 2001
- Johns Hopkins UniversityFellowship, Medical Genetics and Genomics, 2001
- Tulane UniversityResidency, Pediatrics, 1996 - 1998
- Tulane University School of MedicineClass of 1996
Certifications & Licensure
- DE State Medical License 2005 - 2025
- FL State Medical License 2017 - 2025
- OH State Medical License 2014 - 2025
- NY State Medical License 2020 - 2024
- PA State Medical License 2005 - 2024
- MD State Medical License 2001 - 2022
- TX State Medical License 2003 - 2005
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
- American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
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Awards, Honors, & Recognition
- Fellow American College of Medical Genetic and Genomics, 2003
- Fellow (FAAP) American Academy of Pediatrics
Clinical Trials
- C-Type Natriuretic Peptide and Achondroplasia Start of enrollment: 2012 Feb 01
- A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Start of enrollment: 2012 Apr 01
- A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Start of enrollment: 2014 Sep 01
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Publications & Presentations
PubMed
- 4 citationsAchondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.Nickolas J Nahm, W G Stuart Mackenzie, William G Mackenzie, Ethan Gough, S Shahrukh Hashmi
Orphanet Journal of Rare Diseases. 2023-06-06 - 8 citationsThe patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.Maria Rapoport, Michael B Bober, Cathleen Raggio, Lena Lande Wekre, Frank Rauch
Orphanet Journal of Rare Diseases. 2023-02-22 - 2 citationsOverlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.Fabian Dorninger, Attila Kiss, Peter Rothauer, Alexander Stiglbauer-Tscholakoff, Stefan Kummer
International Journal of Molecular Sciences. 2023-01-18
Press Mentions
- International Comprehensive Consensus Issued on Management of AchondroplasiaDecember 14th, 2021
- Look-Back Study Charts 60 Years of Treatments, Health Characteristics Among People with Dwarfism in Effort to Improve Their Quality of LifeJune 21st, 2021
- Prevalence of Mental Health Conditions and Pain in Adults with Skeletal DysplasiaJanuary 14th, 2020
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Professional Memberships
- Fellow
- American College of Medical GeneticsMember
- Member
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