| Multigene sequencing analysis of children born small for gestational age with isolated short stature BL Freire, TK Homma, MFA Funari, AM Lerario, GA Vasques, ... The Journal of Clinical Endocrinology & Metabolism 104 (6), 2023-2030, 2019 | 80 | 2019 |
| Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing TK Homma, BL Freire, RSH Kawahira, A Dauber, MF de Assis Funari, ... The Journal of Pediatrics 215, 192-198, 2019 | 54 | 2019 |
| SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling YC Lin, M Niceta, V Muto, B Vona, AT Pagnamenta, R Maroofian, C Beetz, ... The American Journal of Human Genetics 108 (1), 115-133, 2021 | 49 | 2021 |
| Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients BL Freire, TK Homma, MFA Funari, AM Lerario, AM Leal, EDRP Velloso, ... European journal of medical genetics 61 (3), 130-133, 2018 | 47 | 2018 |
| Recurrent copy number variants associated with syndromic short stature of unknown cause TK Homma, ACV Krepischi, TK Furuya, RS Honjo, AC Malaquias, ... Hormone research in paediatrics 89 (1), 13-21, 2018 | 40 | 2018 |
| Two patients with severe short stature due to a FBN1 mutation (p. Ala1728Val) with a mild form of acromicric dysplasia C De Bruin, C Finlayson, MFA Funari, GA Vasques, B Lucheze Freire, ... Hormone research in paediatrics 86 (5), 342-348, 2016 | 28 | 2016 |
| Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients TR Villela, BL Freire, NTP Braga, RR Arantes, MFA Funari, JAL Alexander, ... Genetics and Molecular Biology 42 (4), e20180197, 2020 | 15 | 2020 |
| Growth and clinical characteristics of children with Floating-Harbor syndrome: analysis of current original data and a review of the literature TK Homma, BL Freire, R Honjo, A Dauber, MFA Funari, AM Lerario, ... Hormone research in paediatrics 92 (2), 115-123, 2020 | 12 | 2020 |
| Evaluation of SHOX defects in the era of next‐generation sequencing MFA Funari, JS de Barros, LS Santana, AM Lerario, BL Freire, TK Homma, ... Clinical genetics 96 (3), 261-265, 2019 | 11 | 2019 |
| High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight BL Freire, TK Homma, AM Lerario, GH Seo, H Han, MF de Assis Funari, ... American Journal of Medical Genetics Part A 188 (9), 2599-2604, 2022 | 8 | 2022 |
| A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder J Magrino, V Munford, DJ Martins, TK Homma, B Page, C Gaubitz, ... Journal of Biological Chemistry 299 (5), 2023 | 7 | 2023 |
| Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature NLM Andrade, MF de Assis Funari, AC Malaquias, PF Collett-Solberg, ... Endocrine Connections 11 (12), 2022 | 6 | 2022 |
| Variants in 46, XY DSD-related genes in syndromic and non-syndromic small for gestational age children with hypospadias B Leitao Braga, N Lisboa Gomes, MY Nishi, BL Freire, RL Batista, ... Sexual Development 16 (1), 27-33, 2022 | 6 | 2022 |
| Burden of rare copy number variants in microcephaly: A brazilian cohort of 185 microcephalic patients and review of the literature GC Tolezano, GC Bastos, SS da Costa, BL Freire, TK Homma, RS Honjo, ... Journal of Autism and Developmental Disorders 54 (3), 1181-1212, 2024 | 3 | 2024 |
| Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy SC Harris, K Chong, D Chitayat, KL Gilmore, AAL Jorge, BL Freire, ... American Journal of Medical Genetics Part A 191 (5), 1282-1292, 2023 | 2 | 2023 |
| MON-333 cutaneous skeletal Hypophosphatemic syndrome (Cshs) caused by somatic HRAS p. G13R mutation: long follow-up of two Brazilian women TF Maia, BL Freire, AS Rodrigues, V Jorgetti, AC Rocha, CS Moises, ... Journal of the Endocrine Society 4 (Supplement_1), MON-333, 2020 | 1 | 2020 |
| Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature T Homma, B Freire, R Ronjo, A Dauber, M Funari, A Lerario, I Arnhold, ... KARGER, 2018 | 1 | 2018 |
| Sequenciamento paralelo em larga escala de genes alvo é uma ferramenta útil no diagnótico etiológico de crianças nascidas pequenas para idade gestacional BL Freire Universidade de São Paulo, 2018 | 1 | 2018 |
| Potentially pathogenic variants identified by next-generation sequencing in patients with short stature of unknown origin N Sanguineti, P Scaglia, A Keselman, D Braslavsky, B Casali, ... IMPE Abstracts 96, 2023 | | 2023 |
| RESPONSE TO RHGH THERAPY IN SHORT CHILDREN BORN AT VERY LOW BIRTH WEIGHT AC MALAQUIAS, T HOMMA, MCB DANTAS, BL FREIRE, EVA ALBUQUE, ... KARGER, 2023 | | 2023 |
