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C. A. Moreno · SciRah

Researcher profile · Semantic Scholar

C. A. Moreno

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C. A. Moreno — researcher profile on SciRah

h-index: 11
Works: 21
Citations: 381

Most-cited papers

Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Shahida Moosa, G. Yamamoto, L. Garbes, Katharina Keupp +29 more
2019American Journal of Human Genetics53 citations Open access
Semantic Scholar
Non‐immune hydrops fetalis: A prospective study of 53 cases
C. A. Moreno, T. Kanazawa, R. Barini, M. Nomura +6 more
2013American Journal of Medical Genetics. Part A46 citations
Semantic Scholar
Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome
C. A. Moreno, N. Sobreira, E. Pugh, Peng Zhang +3 more
2018European Journal of Human Genetics43 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
Visceral Myopathy: Clinical and Molecular Survey of a Cohort of Seven New Patients and State of the Art of Overlapping Phenotypes
C. A. Moreno, K. Metze, E. Lomazi, D. R. Bertola +4 more
2016American Journal of Medical Genetics. Part A38 citations Open access
Semantic Scholar
CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients
S. Poloni, Fernanda Sperb-Ludwig, Taciane Borsatto, Giovana Weber Hoss +20 more
2018Molecular Genetics & Genomic Medicine22 citations Open access
Semantic Scholar
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region
T. F. Araujo, E. Ribeiro, A. P. Arruda, C. A. Moreno +8 more
2016European Journal of Medical Research21 citations Open access
Semantic Scholar
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII
F. Kubaski, A. Brusius-Facchin, R. W. Mason, Pravin Patel +9 more
2017Prenatal Diagnosis20 citations Open access
Semantic Scholar
Beemer–Langer syndrome is a ciliopathy due to biallelic mutations in IFT122
Karina C. Silveira, C. A. Moreno, D. P. Cavalcanti
2017American Journal of Medical Genetics. Part A20 citations
Semantic Scholar
Acute liver failure in a term neonate after repeated paracetamol administration
F. Bucaretchi, C. B. Fernandes, M. M. Branco, E. D. De Capitani +4 more
2014Revista Paulista de Pediatria19 citations Open access
Semantic Scholar
Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair
M. D. Lacarrubba-Flores, D. Carvalho, E. Ribeiro, C. A. Moreno +4 more
2018American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes
C. Quaio, A. Coelho, L. M. S. Moura, R. Guedes +23 more
2022Frontiers in Genetics9 citations Open access
Semantic Scholar
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
G. Di Lorenzo, L. Westermann, T. Yorgan, J. Stürznickel +28 more
2021Genetics in Medicine9 citations Open access
Semantic Scholar
Cystathionine β‐Synthase Deficiency in the E‐HOD Registry—Part II: Dietary and Pharmacological Treatment
A. A. Morris, J. Sokolová, M. Pavlíková, F. Gleich +68 more
2025Journal of Inherited Metabolic Disease7 citations Open access
Semantic Scholar
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation
Cynthia Silveira, Karina da Costa Silveira, M. D. Lacarrubba-Flores, M. T. Sakata +4 more
2022Molecular Syndromology7 citations
Semantic Scholar
IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT
A. M. D. de Tommaso, Flávia Fonseca de Carvalho Barra, G. Hessel, C. A. Moreno +2 more
2017Revista Paulista de Pediatria7 citations Open access
Semantic Scholar
Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients
S. Poloni, Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Taciane Borsatto +19 more
20185 citations Open access
Semantic Scholar
Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome
C. A. Moreno, N. Sobreira, E. Pugh, P. Zhang +3 more
2018European Journal of Human Genetics5 citations Open access
Semantic Scholar
A decade of molecular diagnosis of mucolipidosis II and III in Brazil: A pooled analysis of 32 patients
N. F. Ludwig, Fernanda Sperb-Ludwig, D. Randon, Pricila Bernardi +5 more
2021Molecular Genetics and Metabolism1 citations Open access
Semantic Scholar
Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants.
C. A. Moreno, Marina De França, J. R. M. Prota, M. Migliavacca +59 more
2026Pediatric Research0 citations Open access
Semantic Scholar
Lc/ms/ms Measurement Of Glycosaminoglycans In Amniotic Fluid Of A Mps Vii Fetus
F. Kubaski, R. W. Mason, M. Burin, Kristiane Michelin-Tirelli +8 more
20170 citations
Semantic Scholar

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