Daniel R. Carvalho
Sarah Network of Rehabilitation Hospitals(BR)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, RNA regulation and disease, Oropharyngeal Anatomy and Pathologies, RNA Research and Splicing
Most-Cited Works
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome(2015)119 cited
- → Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator(2021)116 cited
- → Mutations in ZBTB20 cause Primrose syndrome(2014)99 cited
- → A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation(2018)71 cited
- → Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome(2011)56 cited
- → Clinical Features and Neurologic Progression of Hyperargininemia(2012)55 cited
- → Homozygosity Enhances Severity in Spinocerebellar Ataxia Type 3(2008)51 cited
- → Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency(2016)38 cited