C. Quaio

发表

Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation

M. Passos-Bueno, C. Kim, D. Bertola, 2013, American journal of medical genetics. Part A.

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

C. Kim, A. Jorge, J. Carvalho, 2012, American journal of medical genetics. Part A.

Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases

M. Cervato, C. Chung, C. Kim, 2021, Scientific Reports.

Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients

C. Chung, C. Kim, Daniele Paixão, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

M. Cervato, R. Guedes, Tatiana Ferreira de Almeida, 2022, Frontiers in Genetics.

A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

C. Kim, Tatiana Ferreira de Almeida, D. Bertola, 2012, Clinics.

Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned

C. Chung, C. Kim, S. Perazzio, 2022, Sao Paulo medical journal = Revista paulista de medicina.

Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients

C. Chung, C. Kim, S. Perazzio, 2021, Molecular Biology Reports.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

Tegumentary manifestations of Noonan and Noonan-related syndromes

A. Pereira, C. Kim, Tatiana Ferreira de Almeida, 2013, Clinics.

Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

M. Mitne-Neto, Ana Lígia Buzolin, D. S. M. Antônio, 2017, Human Genomics.

Copy Number Variation in the Human Genome

E. N. Ferreira, C. Quaio, 2021, Human Genome Structure, Function and Clinical Considerations.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

C. Kim, C. G. Matas, D. Bertola, 2021, Clinics.

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases

C. Kim, M. Chauffaille, L. Andrade, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports

C. Kim, G. M. Novo-Filho, L. Kulikowski, 2013, Journal of Medical Case Reports.

Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases

C. Chung, C. Kim, Daniele Paixão, 2021, Genetics and molecular biology.

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

C. Kim, L. Coutinho, G. Yamamoto, 2020, Molecular genetics & genomic medicine.

Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).

R. Giugliani, D. Bertola, S. Leistner-Segal, 2012, JIMD reports.

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.

C. Kim, D. Bertola, R. Honjo, 2016, Revista da Associacao Medica Brasileira.

New insights in mucopolysaccharidosis type VI: Neurological perspective

C. Kim, Felippe Borlot, P. Arantes, 2014, Brain and Development.

Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement

C. Kim, C. Lourenço, D. Bertola, 2014, American journal of medical genetics. Part A.

The first cardiac transplant experience in a patient with mucopolysaccharidosis.

C. Kim, E. Bocchi, M. Vieira, 2012, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation.

M. Zenker, Y. Koda, D. Bertola, 2014, Genetics and molecular research : GMR.

A Possible Role of Different PTPN Genes in Immune Regulation

A. Pereira, R. L. Dutra, A. Brasil, 2012, Scandinavian journal of immunology.

Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation.

M. Zenker, Y. Koda, D. Bertola, 2014 .

Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

M. Mitne-Neto, Ana Lígia Buzolin, C. Quaio, 2017, Human Genomics.

Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?

J. Pedroso, D. Verbeek, O. Barsottini, 2021, Neurology: Genetics.

Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing.

N. S. Rosa Neto, S. Perazzio, C. Quaio, 2024, Advances in rheumatology.

Lipoid proteinosis: rare case confirmed by ECM1 mutation detection.

J. McGrath, C. Kim, D. Bertola, 2014, International journal of pediatric otorhinolaryngology.