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Office
10 Center Dr
10-Crc, Room 5-2571
Bethesda, MD 20892Phone+1 301-435-4432- Is this information wrong?
Education & Training
Washington University/B-JH/SLCH ConsortiumResidency, Pediatrics, 1989 - 1992- Washington University in St. Louis School of MedicineClass of 1989
Certifications & Licensure
MD State Medical License 1993 - 2025- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- Study of Smith-Lemli-Opitz Syndrome Start of enrollment: 1998 Sep 13
- Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Start of enrollment: 2002 Oct 09
- Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Start of enrollment: 2003 Jul 01
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Publications & Presentations
PubMed
- Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model.Kristin Gabor, Emily V Mesev, Jennifer Madenspacher, Julie Meacham, Prashant Rai, Sookjin Moon, Christopher A Wassif, Saame Raza Shaikh, C J Tucker, Peer Karmaus, Simo...> ;The Journal of Clinical Investigation. 2024 Jan 18
- Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".Farmer, C., Thurm, A., Wassif, C., Cawley, N., Perreault, J., Dang Do, A., Guthrie, W., Cubit, L., Miller, J., Sutton, V., Rahhal, S., Bianconi, S., Hannah-Shmouni, F....> ;Molecular Genetics and Metabolism Reports. 2023 Dec 1
- Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A Wassif, Niamh X Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, La...> ;Molecular Genetics and Metabolism Reports. 2023 Dec 1
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Press Mentions
Item of Interest: NICHD Researchers Collaborate with Basic Scientists to Understand Rare, Fatal Childhood Neurological DisorderSeptember 28th, 2022
New Drug for Niemann-Pick Disease Type C1 Appears Safe, EffectiveAugust 11th, 2017
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