Bruna Lucheze Freire

Bruna Lucheze Freire

Universidade de São Paulo USP - São Paulo / Brazil
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 5676104
University of São Paulo USP
person_outline Bruna Lucheze Freire's MOST POPULAR ARTICLES
1-) Multigene sequencing analysis of children born small for gestational age with isolated short statureBL Freire, TK Homma, MFA Funari, AM Lerario, GA Vasques, ...The Journal of Clinical Endocrinology & Metabolism 104 (6), 2023-2030, 2019792019
2-) Genetic disorders in prenatal onset syndromic short stature identified by exome sequencingTK Homma, BL Freire, RSH Kawahira, A Dauber, MF de Assis Funari, ...The Journal of Pediatrics 215, 192-198, 2019532019
3-) SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYC Lin, M Niceta, V Muto, B Vona, AT Pagnamenta, R Maroofian, C Beetz, ...The American Journal of Human Genetics 108 (1), 115-133, 2021482021
4-) Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patientsBL Freire, TK Homma, MFA Funari, AM Lerario, AM Leal, EDRP Velloso, ...European journal of medical genetics 61 (3), 130-133, 2018502018
5-) Recurrent copy number variants associated with syndromic short stature of unknown causeTK Homma, ACV Krepischi, TK Furuya, RS Honjo, AC Malaquias, ...Hormone research in paediatrics 89 (1), 13-21, 2018432018