C. Medina

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A

D. Cavalcanti, R. Pogue, R. Sandoval, 2020, American journal of medical genetics. Part A.

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

R. Pogue, R. W. Pereira, C. C. Fernandes, 2015, PloS one.

Case Report Angiosarcoma in a 3-year-old Child with Congenital Lymphedema

R. Fabiano, G. Paskulin, P. Zen, 2009 .

Recurrent Pregnancy Loss: Investigations and Interventions

E. Pimentel, V. Lopes, J. P. B. Brasileiro, 2019, Innovations In Assisted Reproduction Technology.

Blepharophimosis‐ptosis‐epicanthus inversus syndrome

R. Rosa, P. Zen, C. Graziadio, 2011, Pediatrics international : official journal of the Japan Pediatric Society.

Computational investigation of a novel uromodulin gene mutation (p.Y286C) in a family with autosomal dominant tubulointerstitial renal disease: A case study

S. D. de Alencar, R. Pogue, C. Medina, 2023, Human Gene.