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Office
10 Center Dr
BETHESDA, MD
Bethesda, MD 20892Phone+1 202-884-2187
Education & Training
National Capital ConsortiumResidency, Pediatrics, 1986 - 1987
University of Texas Health Science Center at HoustonResidency, Pediatrics, 1984 - 1986
McGovern Medical School at UTHealthClass of 1983
Certifications & Licensure
MD State Medical License 1986 - 2025
DC State Medical License 1991 - 2022- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Clinical Trials
- Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders Start of enrollment: 2002 Feb 06
- Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Start of enrollment: 2004 Jul 01
Publications & Presentations
PubMed
- 243 citationsLysosomal storage diseases.Frances M Platt, Alessandra d'Azzo, Beverly L Davidson, Elizabeth F Neufeld, Cynthia J Tifft
Nature Reviews. Disease Primers. 2018-10-01 - 41 citationsPartial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman
Biological Psychiatry. 2020-01-15 - 55 citationsBiallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez
American Journal of Human Genetics. 2018-03-01
Journal Articles
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseCarlos A Bacino, Vandana Shashi, Euan A Ashley, Cynthia J Tifft, William A Gahl, Brendan H Lee, John J Mulvihill, Rizwan Hamid, Matthew T Wheeler, Jonathan A Bernstein..., The New England Journal of Medicine
Press Mentions
Sio Gene Therapies Announces CSF Reductions in GM1 Ganglioside from Clinical Trial of AXO-AAV-gm1 Gene TherapyMay 13th, 2021- An Experimental Gene Therapy Was Little Alissa's Only Hope. Now, Instead of Certain Death, She Faces an Uncertain FutureApril 25th, 2021
- Sio Gene Therapies Announces First Patient Dosed in High-Dose Cohort of AXO-AAV-gm1 Clinical Trial in Patients with GM1 GangliosidosisDecember 2nd, 2020
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Grant Support
- An Exploratory, Open-Label Study Of The Safety AndNational Center For Research Resources2010
- Pharmacokinetics, Safety, And Tolerability Of Zavesca (MIGLUSTAT) In PatientsNational Center For Research Resources2006–2008
- Pathogenesis And Natural History Of The Glycosphingolipd (GSL) StorageNational Center For Research Resources2006
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