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C. Ficicioglu · SciRah

Researcher profile · Semantic Scholar

C. Ficicioglu

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C. Ficicioglu — researcher profile on SciRah

h-index: 34
Works: 149
Citations: 5,470

Most-cited papers

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
B. Burton, M. Balwani, F. Feillet, I. Barić +27 more
2015New England Journal of Medicine224 citations Open access
Semantic Scholar
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations
Jeffrey M. Chinsky, Rani H. Singh, C. Ficicioglu, C. van Karnebeek +7 more
2017Genetics in Medicine205 citations Open access
Semantic Scholar
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
J. Kwon, D. Matern, J. Kurtzberg, L. Wrabetz +7 more
2018Orphanet Journal of Rare Diseases87 citations Open access
Semantic Scholar
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
J. Guéant, C. Chéry, A. Oussalah, J. Nadaf +27 more
2018Nature Communications86 citations Open access
Semantic Scholar
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
J. N. Dines, Katie Golden-Grant, Amy Lacroix, Alison M. Muir +28 more
2018Genetics in Medicine71 citations Open access
Semantic Scholar
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
N. Weinreb, O. Goker-Alpan, P. Kishnani, N. Longo +10 more
2022Molecular Genetics and Metabolism59 citations Open access
Semantic Scholar
Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection–Electrospray Ionization–Quadrupole Time-of-Flight Mass Spectrometry
Jie Chen, Xue-Li Li, A. Edmondson, G. D. Meyers +6 more
2019Clinical Chemistry59 citations Open access
Semantic Scholar
Person ability scores as an alternative to norm-referenced scores as outcome measures in studies of neurodevelopmental disorders
Cristan A. Farmer, Aaron J. Kaat, A. Thurm, I. Anselm +26 more
2020American Journal on Intellectual and Developmental Disabilities55 citations Open access
Semantic Scholar
Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.
N. Longo, G. Arnold, G. Pridjian, G. Enns +3 more
2015Molecular Genetics and Metabolism55 citations Open access
Semantic Scholar
ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients
B. Ng, S. Shiryaev, D. Rymen, E. Eklund +55 more
2016Human Mutation54 citations Open access
Semantic Scholar
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via Newborn Screening: The benefits of early treatment with enzyme replacement therapy and immune tolerance induction
Cindy Li, Ankit K. Desai, P. Gupta, Katherine J. Dempsey +7 more
2021Genetics in Medicine49 citations Open access
Semantic Scholar
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry
M. Huemer, D. Diodato, D. Martinelli, G. Olivieri +57 more
2019Journal of Inherited Metabolic Disease49 citations Open access
Semantic Scholar
Mutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease
Magda Cannata Serio, L. Graham, A. Ashikov, L. E. Larsen +24 more
2020Hepatology46 citations Open access
Semantic Scholar
Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
Yin-Hsiu Chien, J. Abdenur, F. Baronio, A. Bannick +35 more
2015Orphanet Journal of Rare Diseases46 citations Open access
Semantic Scholar
Newborn Screening for Pompe Disease: Pennsylvania Experience
C. Ficicioglu, R. Ahrens-Nicklas, J. Barch, Sanmati Cuddapah +8 more
2020International Journal of Neonatal Screening42 citations Open access
Semantic Scholar
Treatment outcome of creatine transporter deficiency: international retrospective cohort study
Theodora U. J. Bruun, S. Sidky, A. Bandeira, F. Debray +12 more
2018Metabolic brain disease41 citations Open access
Semantic Scholar
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
V. Kožich, J. Sokolová, A. Morris, M. Pavlíková +68 more
2020Journal of Inherited Metabolic Disease39 citations Open access
Semantic Scholar
Complex care of individuals with Multiple Sulfatase Deficiency: clinical cases and consensus statement
R. Ahrens-Nicklas, L. Schlotawa, A. Ballabio, N. Brunetti-Pierri +14 more
2018Molecular Genetics and Metabolism37 citations Open access
Semantic Scholar
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
R. Ganetzky, Kaitlyn Bloom, R. Ahrens-Nicklas, A. Edmondson +3 more
2016JIMD Reports36 citations Open access
Semantic Scholar
Pathogenesis and Treatment of Spine Disease in the Mucopolysaccharidoses
Sun H. Peck, Margret L. Casal, Neil R. Malhotra, C. Ficicioglu +1 more
2016Molecular Genetics and Metabolism36 citations Open access
Semantic Scholar
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
J. Priestley, L. Adang, Sarah Drewes Williams, U. Lichter-Konecki +8 more
2022International Journal of Neonatal Screening30 citations Open access
Semantic Scholar
Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement
A. Degnan, Victor M. Ho-Fung, R. Ahrens-Nicklas, Christian A. Barrera +3 more
2019Insights into Imaging28 citations Open access
Semantic Scholar
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience
R. Ahrens-Nicklas, A. Whitaker, P. Kaplan, Sanmati Cuddapah +5 more
2017Genetics in Medicine28 citations Open access
Semantic Scholar
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
Svenja Scharré, R. Posset, S. Garbade, F. Gleich +45 more
2022Annals of Clinical and Translational Neurology25 citations Open access
Semantic Scholar
CHAMPIONS: A phase 1/2 clinical trial with dose escalation of SB-913 ZFN-mediated in vivo human genome editing for treatment of MPS II (Hunter syndrome)
J. Muenzer, C. Prada, B. Burton, Heather Lau +5 more
2019Molecular Genetics and Metabolism25 citations
Semantic Scholar
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.
S. A. Berry, N. Longo, G. Diaz, S. McCandless +7 more
2017Molecular Genetics and Metabolism25 citations Open access
Semantic Scholar
Disorders of phenylalanine and tyrosine metabolism
H. Alsharhan, C. Ficicioglu
2020Translational Science of Rare Diseases24 citations Open access
Semantic Scholar
Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications
T. Aleman, Frank Brodie, C. Garvin, D. Gewaily +5 more
2015Ophthalmic Genetics24 citations
Semantic Scholar
Galactokinase deficiency: lessons from the GalNet registry
M. E. Rubio-Gozalbo, Britt Derks, A. Das, U. Meyer +20 more
2020Genetics in Medicine23 citations Open access
Semantic Scholar
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)
C. Ficicioglu, R. Giugliani, P. Harmatz, N. Mendelsohn +2 more
2017American Journal of Medical Genetics. Part A20 citations Open access
Semantic Scholar
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.
A. Edmondson, J. Salant, L. Ierardi-Curto, C. Ficicioglu
2016JIMD Reports19 citations Open access
Semantic Scholar
Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency
R. Ahrens-Nicklas, L. Pyle, C. Ficicioglu
2016Genetics in Medicine19 citations Open access
Semantic Scholar
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial
J. V. Van Hove, Cynthia L. Freehauf, C. Ficicioglu, L. Pena +18 more
2019Journal of Inherited Metabolic Disease18 citations
Semantic Scholar
Adolescent presentations of inborn errors of metabolism.
R. Ahrens-Nicklas, G. Slap, C. Ficicioglu
2015Journal of Adolescent Health18 citations
Semantic Scholar
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
A. Brower, K. Chan, Marc S. Williams, S. Berry +23 more
2022Frontiers in Genetics17 citations Open access
Semantic Scholar
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
J. Guéant, C. Chéry, A. Oussalah, J. Nadaf +27 more
2018Nature Communications16 citations Open access
Semantic Scholar
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.
R. Ahrens-Nicklas, E. Serdaroğlu, C. Muraresku, C. Ficicioglu
2015JIMD Reports16 citations Open access
Semantic Scholar
Early Signs of Creatine Transporter Deficiency
Judith S. Miller, Rebecca P. Thomas, Amanda E. Bennett, S. Bianconi +6 more
2018Jornal de Pediatria15 citations Open access
Semantic Scholar
New tools and approaches to newborn screening: ready to open Pandora's box?
C. Ficicioglu
2017Cold Spring Harbor molecular case studies14 citations Open access
Semantic Scholar
Addition of MPS-II to the Recommended Uniform Screening Panel in the United States
D. Millington, C. Ficicioglu
2022International Journal of Neonatal Screening13 citations Open access
Semantic Scholar
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
A. Oussalah, Youssef Siblini, Sébastien Hergalant, C. Chéry +18 more
2022Clinical Epigenetics13 citations Open access
Semantic Scholar
Should patients with Phosphomannomutase 2-CDG be screened for adrenal insufficiency?
A. Čechová, T. Honzík, A. Edmondson, C. Ficicioglu +14 more
2021Molecular Genetics and Metabolism13 citations Open access
Semantic Scholar
Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency
Emily Shelkowitz, C. Ficicioglu, N. Stence, J. V. Van Hove +1 more
2020Journal of Child Neurology13 citations
Semantic Scholar
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders.
S. A. Berry, J. Vockley, A. Vinks, M. Dong +11 more
2018Molecular Genetics and Metabolism13 citations Open access
Semantic Scholar
The current state of adult metabolic medicine in the United States: Results of a nationwide survey
Jessica I. Gold, Nina B. Gold, A. Strong, Erin M. Tully +3 more
2022Genetics in Medicine12 citations Open access
Semantic Scholar
Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy
Jennifer L. Cohen, J. Burfield, Karen Valdez-Gonzalez, Angela Samuels +4 more
2019Orphanet Journal of Rare Diseases11 citations Open access
Semantic Scholar
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care
K. Szigety, T. Crowley, Kimberly B Gaiser, Erin Y. Chen +20 more
2022Pediatrics10 citations Open access
Semantic Scholar
Gaucher disease status and treatment assessment: pilot study using magnetic resonance spectroscopy bone marrow fat fractions in pediatric patients.
A. Degnan, Victor M. Ho-Fung, Dah-Jyuu Wang, C. Ficicioglu +1 more
2020Clinical imaging10 citations
Semantic Scholar
Update on phase 1/2 clinical trials for MPS I and MPS II using ZFN-mediated in vivo genome editing
P. Harmatz, J. Muenzer, B. Burton, C. Ficicioglu +7 more
201810 citations
Semantic Scholar
Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives
Claudia Soler-Alfonso, M. Bennett, C. Ficicioglu
201610 citations Open access
Semantic Scholar

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