CanHFiciciogluMDPhD
Medical Genetics • Philadelphia, PAClinical Biochemical Genetics, Clinical Genetics
Professor of Pediatrics, Perelman School of Medicine
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Office
3401 Civic Center Blvd
Childrens Hospital of Philadelphia Metabolism
Philadelphia, PA 19104Phone+1 215-590-3376Fax+1 215-590-4297
Education & Training
Westchester Medical CenterResidency, Pediatrics, 2001 - 2002
Montefiore Medical Center/Albert Einstein College of MedicineResidency, Pediatrics, 2000 - 2001
Brigham and Women's Hospital/Children's Hospital/Harvard Medical SchoolResidency, Internal Medicine/Pediatrics, 1998 - 1999
Istanbul University FomClass of 1985
Certifications & Licensure
NJ State Medical License 2016 - 2025
PA State Medical License 2002 - 2024
NC State Medical License 2022 - 2022
NY State Medical License 2002 - 2004- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Pediatrics Pediatrics
Clinical Trials
- Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy Start of enrollment: 2010 Mar 01
- Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project) Start of enrollment: 2014 May 21
- A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders Start of enrollment: 2014 Dec 31
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Publications & Presentations
PubMed
- 1304 citationsStructural variation of chromosomes in autism spectrum disorder.Christian R. Marshall, Abdul Noor, John B. Vincent, Anath C. Lionel, Lars Feuk
American Journal of Human Genetics. 2008-02-08 - 23 citationsComplex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.Rebecca C. Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti-Pierri, Mauricio De Castro
Molecular Genetics and Metabolism. 2018-01-31 - 21 citationsThe diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?Neal J Weinreb, Ozlem Goker-Alpan, Priya S Kishnani, Nicola Longo, T Andrew Burrow
Molecular Genetics and Metabolism. 2022-05-01
Journal Articles
- TANGO2: Expanding the Clinical Phenotype and Spectrum of Pathogenic VariantsJennifer N Dines, Heather C Mefford, Barbara Burton, Joline Dalton, Alice Basinger, Peter Karachunski, Can Ficicioglu, Katherine L Helbig, Nature
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