Publications

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Abreu MH, Lee KH, Luquetti DV, Starr JR. Temporal trend in the reported birth prevalence of cleft lip and/or cleft palate in Brazil, 2000 to 2013. Birth defects research. Part A, Clinical and molecular teratology. 2016. PMID: 27256471.


Luquetti DV, Saltzman BS, Lopez-Camelo J, Dutra Mda G, Castilla EE. Risk factors and demographics for microtia in South America: a case-control analysis. Birth defects research. Part A, Clinical and molecular teratology. 2013;97(11):736-43. PMID: 24265127.


Luquetti DV, Saltzman BS, Sie KC, Birgfeld CB, Leroux BG, Evans KN, Smartt JM Jr, Tieu DD, Dudley DJ, Heike CL. Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia. American journal of medical genetics. Part A. 2013;161A(6):1264-72 PMCID: PMC3664118.


Birgfeld CB, Saltzman BS, Luquetti DV, Latham K, Starr JR, Heike CL. Comparison of two-dimensional and three-dimensional images for phenotypic assessment of craniofacial microsomia. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 2013;50(3):305-14. PMID: 22849636.


Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML. “Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: expanding the phenotype. American journal of medical genetics. Part A. 2013;161A(1):108-13. PMCID: PMC3535578.


Luquetti DV, Saltzman BS, Vivaldi D, Pimenta LA, Hing AV, Cassell CH, Starr JR, Heike CL. Evaluation of ICD-9-CM codes for craniofacial microsomia. Birth defects research. Part A, Clinical and molecular teratology. 2012;94(12):990-5. PMCID: PMC3522759.


Quina LA, Kuramoto T, Luquetti DV, Cox TC, Serikawa T, Turner EE. Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation. Disease models & mechanisms. 2012;5(6):812-22. PMCID: PMC3484864.


Birgfeld CB, Saltzman BS, Luquetti DV, Latham K, Starr JR, Heike CL. Comparison of Two-Dimensional and Three-Dimensional Images for Phenotypic Assessment of Craniofacial Microsomia. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 2012. PMID: 22849636.


Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC. Microtia: Epidemiology and genetics. American journal of medical genetics. Part A. 2011. PMID: 22106030.


Luquetti DV, Leoncini E, Mastroiacovo P. Microtia-anotia: a global review of prevalence rates. Birth defects research. Part A, Clinical and molecular teratology. 2011:813-22. PMID: 21656661.


Birgfeld CB, Luquetti DV, Gougoutas AJ, Bartlett SP, Low DW, Sie KC, Evans KN, Heike CL. A phenotypic assessment tool for craniofacial microsomia. Plastic and reconstructive surgery. 2011: 313-20. PMID: 21200224.


Luquetti DV, Koifman RJ. Surveillance of birth defects: Brazil and the US. Ciencia & saude coletiva. 2011: 777-85. PMID: 21503424.


Luquetti DV, Koifman RJ. Validity and reliability of the Brazilian birth certificate for reporting birth defects. Journal of registry management. 2010: 112-20. PMID: 21462883.


Luquetti DV, Koifman RJ. Quality of reporting on birth defects in birth certificates: case study from a Brazilian reference hospital. Cadernos de saude publica / Ministerio da Saude, Fundacao Oswaldo Cruz, Escola Nacional de Saude Publica. 2009:1721-31. PMID: 19649413.


Lonardo F, Sabba G, Luquetti DV, Monica MD, Scarano G. Al-Awadi/Raas-Rothschild syndrome: two new cases and review. American journal of medical genetics. Part A. 2007: 3169-74. PMID: 17431918.


Della Monica M, Lonardo F, Faravelli F, Pierluigi M, Luquetti DV, De Gregori M, Zuffardi O, Scarano G. A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q. American journal of medical genetics. Part A. 2007: 2733-7. PMID: 17937430.


Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G. Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. European journal of medical genetics. 2007: 301-8. PMID: 17591464.


Luquetti DV, Oliveira-Sobrinho RP, Gil-da-Silva-Lopes VL. Gillespie syndrome: additional findings and parental consanguinity. Ophthalmic genetics. 2007: 89-93. PMID: 17558851.


Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M. Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. American journal of medical genetics. Part A. 2007: 241-7. PMID: 17163535.


Gil-da-Silva-Lopes VL, Luquetti DV. Congenital temporomandibular joint ankylosis: clinical characterization and natural history of four unrelated affected individuals. The Cleft palate-craniofacial journal: official publication of the American Cleft Palate-Craniofacial Association. 2005: 694-8. PMID: 16241183.