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Office
1 Childrens Pl
# Div
Saint Louis, MO 63110Phone+1 314-454-6093Fax+1 844-965-9624
Education & Training
- Cedars-Sinai Medical CenterResidency, Medical Genetics and Genomics, 2003 - 2007
- Los Angeles County-Harbor-UCLA Medical CenterResidency, Pediatrics, 1999 - 2003
- Columbia University Vagelos College of Physicians and SurgeonsClass of 1999, MD
Certifications & Licensure
- IL State Medical License 2021 - 2026
- MO State Medical License 2018 - 2025
- CA State Medical License 2000 - 2020
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Medical Genetics and Genomics Medical Biochemical Genetics
- American Board of Pediatrics Pediatrics
Clinical Trials
- Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I Start of enrollment: 2005 Nov 01
- Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I Start of enrollment: 2008 Jan 01
- A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Start of enrollment: 2009 Jun 01
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Publications & Presentations
PubMed
- 42 citationsIRF2BPL Is Associated with Neurological Phenotypes.Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld
American Journal of Human Genetics. 2018-09-06 - 40 citationsDe novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.F. Tran Mau-Them, Laurent Guibaud, Laurence Duplomb, Boris Keren, Kristin Lindstrom
Genetics in Medicine. 2019-04-01 - 67 citationsReplacing the Enzyme α-l-Iduronidase at Birth Ameliorates Symptoms in the Brain and Periphery of Dogs with Mucopolysaccharidosis Type IAshley D. Dierenfeld, Michael F. McEntee, Carole Vogler, Charles H. Vite, Agnes Chen
Science Translational Medicine. 2010-12-01
Press Mentions
- Yes, Men Can Get Breast Cancer, Too. Here’s Who Is Most at RiskOctober 31st, 2022
- Men Urged to Get Tested for Gene That Causes Breast CancerJuly 8th, 2022
- Sanfilippo B Enzyme Replacement Therapy M041 Can Get into CellsAugust 19th, 2021
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Grant Support
- Intrathecal Enzyme Therapy For Mucopolysaccharidosis INational Institute Of Neurological Disorders And Stroke2006–2010
- Pilot/Phase I Study Of Intrathecal Laronidase For Spinal Cord Compression In MucoFood And Drug Administration2008–2009
- A Study Of Intrathecal Enzyme Replacement Therapy For Spinal Cord CompressionNational Center For Research Resources2006–2009
- Clinical Trial: A Study Of Intrathecal Enzyme Replacement Therapy For Spinal CORNational Center For Research Resources2008
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