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C. Kim · SciRah

Researcher profile · Semantic Scholar

C. Kim

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C. Kim — researcher profile on SciRah

h-index: 39
Works: 244
Citations: 6,976

Most-cited papers

Williams syndrome
B. Kozel, B. Barak, C. Kim, C. Mervis +3 more
2021Nature Reviews Disease Primers163 citations Open access
Semantic Scholar
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Long Guo, D. Bertola, A. Takanohashi, Asuka Saito +34 more
2019American Journal of Human Genetics122 citations Open access
Semantic Scholar
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Emma M. Wade, P. Daniel, Z. Jenkins, A. McInerney-Leo +26 more
2016American Journal of Human Genetics65 citations Open access
Semantic Scholar
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
N. Sobreira, M. Brucato, Li Zhang, C. Ladd-Acosta +11 more
2017European Journal of Human Genetics60 citations Open access
Semantic Scholar
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
T. Homma, B. L. Freire, Rachel Sayuri Honjo Kawahira, A. Dauber +12 more
2019Jornal de Pediatria56 citations
Semantic Scholar
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
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
Hiromi Aoi, T. Mizuguchi, J. Ceroni, V. Kim +18 more
2019Journal of Human Genetics52 citations
Semantic Scholar
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause
T. Homma, A. Krepischi, T. K. Furuya, R. Honjo +9 more
2017Hormone Research in Paediatrics48 citations Open access
Semantic Scholar
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
C. D'Angelo, M. Varela, C. I. E. de Castro, P. Otto +7 more
2018Molecular Cytogenetics46 citations Open access
Semantic Scholar
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant
Y. Uchiyama, C. Kim, A. Pastorino, J. Ceroni +12 more
2019Journal of Human Genetics35 citations
Semantic Scholar
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype
D. Bertola, G. Yamamoto, Michelle Buscarilli, A. Jorge +2 more
2017American Journal of Medical Genetics. Part A33 citations
Semantic Scholar
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
M. Wagner, J. Lévy, S. Jung-Klawitter, S. Bakhtiari +28 more
2020Genetics in Medicine32 citations Open access
Semantic Scholar
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Ken Saida, R. Maroofian, T. Sengoku, T. Mitani +83 more
2022Genetics in Medicine31 citations Open access
Semantic Scholar
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
Y. Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, S. Miyatake +60 more
2020Human Mutation30 citations Open access
Semantic Scholar
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases
C. Quaio, C. Moreira, G. M. Novo-Filho, Patricia Rossi Sacramento-Bobotis +39 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics30 citations
Semantic Scholar
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype
Emma M. Wade, Z. Jenkins, P. Daniel, Tim Morgan +22 more
2017American Journal of Medical Genetics. Part A30 citations Open access
Semantic Scholar
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
A. Malaquias, R. M. Noronha, Thaiana T O Souza, T. Homma +11 more
2019Hormone Research in Paediatrics26 citations
Semantic Scholar
Natural history of 39 patients with Achondroplasia
J. Ceroni, Diogo Cordeiro de Queiroz Soares, Larissa de Cássia Testai, R. Kawahira +5 more
2018Clinics24 citations Open access
Semantic Scholar
Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil
D. Bertola, M. Castro, G. Yamamoto, R. Honjo +8 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics23 citations
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
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
A. Canton, A. Krepischi, L. Montenegro, S. Costa +16 more
2020Human Reproduction21 citations
Semantic Scholar
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".
A. Costantini, H. Valta, N. Baratang, Patrick Yap +15 more
2019Bone21 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
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
Halie J. May, Jaehoon Jeong, Anya Revah-Politi, J. Cohen +23 more
2021Genetics in Medicine17 citations Open access
Semantic Scholar
Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines
Yanca Gasparini, M. Montenegro, G. M. Novo-Filho, José R M Ceroni +10 more
2019Cytogenetic and Genome Research17 citations
Semantic Scholar
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
N. F. Ludwig, R. Velho, Fernanda Sperb-Ludwig, A. Acosta +10 more
2017International Journal of Biochemistry and Cell Biology17 citations
Semantic Scholar
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature
T. Homma, B. L. Freire, R. Honjo, A. Dauber +8 more
2019Hormone Research in Paediatrics16 citations
Semantic Scholar
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry
T. Ali, Bianca D W Linnenkamp, G. Yamamoto, R. Honjo +3 more
2022American Journal of Medical Genetics. Part A15 citations Open access
Semantic Scholar
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
D. Horovitz, E. Leão, E. Ribeiro, A. Martins +17 more
2021Molecular Genetics and Metabolism15 citations Open access
Semantic Scholar
Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.
J. R. Pegler, Diogo Cordeiro de Queiroz Soares, C. Quaio, N. Fernandes +4 more
2016Revista da Associação Médica Brasileira15 citations Open access
Semantic Scholar
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome
J. Josahkian, A. Brusius-Facchin, A. B. Netto, S. Leistner-Segal +19 more
2021American Journal of Medical Genetics. Part C, Seminars in Medical Genetics14 citations
Semantic Scholar
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients
C. Quaio, C. Chung, S. Perazzio, Aurelio Pimenta Dutra +21 more
2021American Journal of Medical Genetics. Part C, Seminars in Medical Genetics14 citations
Semantic Scholar
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1
Ken Saida, C. Kim, J. Ceroni, D. Bertola +7 more
2019Journal of Human Genetics14 citations
Semantic Scholar
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
Ariadne R Lima, B. M. Ferreira, Chao-Fan Zhang, Angad Jolly +45 more
2022Human Mutation13 citations Open access
Semantic Scholar
Novel CLTC variants cause new brain and kidney phenotypes
T. Itai, S. Miyatake, N. Tsuchida, Ken Saida +11 more
2021Journal of Human Genetics13 citations
Semantic Scholar
Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases
R. Honjo, Vanessa Monteleone, V. Aiello, Jaqueline Wagenfuhr +7 more
2021American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype
Mileny Colovati, S. Bragagnolo, R. S. Guilherme, A. G. Dantas +4 more
2016Cytogenetic and Genome Research13 citations
Semantic Scholar
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients
Juan Llerena, C. Kim, V. Fano, P. Rosselli +14 more
2022BMC Pediatrics12 citations Open access
Semantic Scholar
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
R. Giugliani, A. Barth, M. Dumas, José Francisco da Silva Franco +14 more
2021Orphanet Journal of Rare Diseases12 citations Open access
Semantic Scholar
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study
T. Alegra, Fernanda Sperb-Ludwig, N. Guarany, E. Ribeiro +7 more
2019Journal of Pediatric Genetics12 citations Open access
Semantic Scholar
Cognitive and behavioral profile of Williams Syndrome toddlers.
A. C. Braga, L. R. Carreiro, T. Tafla, Nadia Maria Giaretta Ranalli +4 more
2018International Symposium on Cooperative Database Systems for Advanced Applications12 citations Open access
Semantic Scholar
CD4+CD25 high Foxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis.
M. C. Matta, D. Soares, M. Kerstenetzky, Augustus Cesar Pinto Freitas +2 more
2016Human Immunology12 citations Open access
Semantic Scholar
Auditory hypersensitivity in Williams syndrome.
L. A. F. Silva, R. Kawahira, C. Kim, C. G. Matas
2021International Journal of Pediatric Otorhinolaryngology11 citations
Semantic Scholar
Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome.
E. Furusawa, C. Esposito, R. Honjo, L. Suzuki +3 more
2018Revista da Associação Médica Brasileira11 citations Open access
Semantic Scholar
Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience
É. Zanardo, R. L. Dutra, F. Piazzon, A. T. Dias +9 more
2017Clinics11 citations Open access
Semantic Scholar
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort
Kyungsoo Ha, Priya Anand, Jennifer A. Lee, Julie R. Jones +6 more
2016Genes11 citations Open access
Semantic Scholar
Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant
Lucas Vieira Lacerda Pires, Renata de Almeida Bordim, Maria Beatriz Rabelo Maciel, A. Tanaka +4 more
2021American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report
I. D. M. Salvucci, S. Finzi, M. Oyamada, C. Kim +1 more
2018Ophthalmic Genetics10 citations
Semantic Scholar
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.
José Francisco da Silva Franco, R. El Dib, A. Agarwal, D. Soares +3 more
2017Intractable & Rare Diseases Research10 citations Open access
Semantic Scholar
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
C. Quaio, M. Obando, S. Perazzio, Aurelio Pimenta Dutra +22 more
2021Genetics and Molecular Biology9 citations Open access
Semantic Scholar

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