| Beemer–Langer syndrome is a ciliopathy due to biallelic mutations in IFT122 KC Silveira, CA Moreno, DP Cavalcanti American Journal of Medical Genetics Part A 173 (5), 1186-1189, 2017 | 24 | 2017 |
| Skeletal dysplasias in Latin America DP Cavalcanti, V Fano, C Mellado, MDJ Lacarrubba‐Flores, C Silveira, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 14 | 2020 |
| Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A CTN Medina, R Sandoval, G Oliveira, K da Costa Silveira, DP Cavalcanti, ... American Journal of Medical Genetics Part A 182 (4), 681-688, 2020 | 12 | 2020 |
| Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene–the clinical and radiological follow-up KC Silveira, LC Bonadia, A Superti-Furga, DR Bertola, AA Jorge, ... Am J Med Genet A 167 (4), 894-901, 2015 | 12 | 2015 |
| Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias KC Silveira, TY Kanazawa, C Silveira, MDJ Lacarrubba‐Flores, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2021 | 6 | 2021 |
| SLC26A2/DTDST Spectrum: a cohort of 12 patients associated with a comprehensive review of the genotype-phenotype correlation C Silveira, K da Costa Silveira, MD Lacarrubba-Flores, MT Sakata, ... Molecular Syndromology 13 (6), 485-495, 2023 | 5 | 2023 |
| Exome sequencing identifies a biallelic GALNS variant (p. Asp233Asn) causing mucopolysaccharidosis type IVA in a Pakistani consanguineous family S Ghafoor, KC Silveira, R Qamar, M Azam, P Kannu Genes 13 (10), 1743, 2022 | 5 | 2022 |
| CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence KC Silveira, IC Fonseca, C Oborn, P Wengryn, S Ghafoor, A Beke, ... Human Genetics 142 (11), 1571-1586, 2023 | 2 | 2023 |
| Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review LA Moreira, DR Carvalho, SCL Santos, CCE Silva, BSA Ferreira, ... Modern Rheumatology, road070, 2023 | 1 | 2023 |
| Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66‐year‐old man A Beke, K da Costa Silveira, T Athey, P Kannu American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2023 | 1 | 2023 |
| Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type‐III with Scoliosis P Wengryn, KC Silveira, C Oborn, CL Soltys, A Beke, I Chacon-Fonseca, ... Human Mutation 2023 (1), 5989733, 2023 | 1 | 2023 |
| Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type‐III P Wengryn, F Fenrich, KC Silveira, C Oborn, S Mizumoto, A Beke, ... The FASEB Journal 38 (13), e23753, 2024 | | 2024 |
| A mesomelic skeletal dysplasia, Kantaputra‐like, not related to HOXD cluster region, and with phenotypic gender differences MDJ Lacarrubba‐Flores, K da Costa Silveira, C Silveira, BS Carvalho, ... American Journal of Medical Genetics Part A 194 (2), 328-336, 2024 | | 2024 |
