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Office
3401 Civic Center Blvd
Philadelphia, PA 19104Phone+1 215-590-1000Fax+1 215-590-1771
Education & Training
- Children's National Hospital/George Washington UniversityFellowship, Child Neurology, 2001 - 2004
- Sidney Kimmel Medical College at Thomas Jefferson University/Nemours Children's Health, WilmingtonResidency, Pediatrics, 1999 - 2001
- Temple University HospitalInternship, Pediatrics, 1998 - 1999
- University Cath De LouvainClass of 1998
Certifications & Licensure
- VA State Medical License 2022 - 2026
- MD State Medical License 2004 - 2025
- NJ State Medical License 2022 - 2025
- NC State Medical License 2022 - 2024
- PA State Medical License 1999 - 2024
- NY State Medical License 2022 - 2023
- DC State Medical License 2004 - 2020
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Clinical Trials
- The Nosology and Etiology of Leukodystrophies of Unknown Causes Start of enrollment: 2009 Apr 24
- Environmental and Genetic Risk Factors for Pediatric Multiple Sclerosis Start of enrollment: 2011 Oct 01
- Natural History Study of Children With Metachromatic Leukodystrophy Start of enrollment: 2015 Nov 02
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Publications & Presentations
PubMed
- Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.Laura Lentini, Helia Toutounchi, Alexandra Chapleau, Adam Le, Simon Fournier
Journal of Child Neurology. 2025-01-01 - Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.Tomoki T Nomakuchi, Eden Y Teferedegn, Dong Li, Kayla J Muirhead, Holly Dubbs
American Journal of Medical Genetics. Part A. 2024-12-01 - The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.Markus J Hofer, Nicholson Modesti, Nicole G Coufal, Qingde Wang, Sunetra Sase
Immunological Reviews. 2024-10-01
Journal Articles
- Author Correction: Neuroimmune Disorders of the Central Nervous System in Children in the Molecular EraAdeline Vanderver, Beau Ances, Benjamin Greenberg, Ann Hyslop, Mark Gorman, Elizabeth Wells, Sean Pittock, Amy Waldman, Brenda Banwell, Nature
- Health-Related Quality of Life for Patients with Genetically Determined LeukoencephalopathyAdeline Vanderver, Raphael Schiffmann, Pediatric Neurology
Authored Content
- Health-Related Quality of Life for Patients with Genetically Determined LeukoencephalopathyMay 2018
Press Mentions
- Existing Drugs May Improve Neurological Function in Patients with Rare Genetic DisorderSeptember 2nd, 2020
- My Girl, 11, Can’t Walk After a Rare Disease Robbed Her of Her Future – Now I’ve Helped Raise £75k to Help Find a CureAugust 11th, 2020
- Baricitinib May Benefit Patients with Aicardi-Goutières SyndromeOctober 28th, 2019
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Grant Support
- Molecular Mechanisms In Vanishing White Matter DiseaseNational Institute Of Neurological Disorders And Stroke2009–2012
- New Diagnostic Approaches In LeukodystrophyNational Center For Research Resources2007–2008
- Improved Diagnosis Of Unclassified LeukodystrophiesNational Center For Research Resources2006–2008
Professional Memberships
- Member
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