Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

Daniela V Luquetti · SciRah

Researcher profile · Semantic Scholar

Daniela V Luquetti

Share profile

Daniela V Luquetti — researcher profile on SciRah

h-index: 22
Works: 60
Citations: 1,675

Most-cited papers

Microtia: Epidemiology & Genetics
Daniela V Luquetti, C. Heike, A. Hing, Michael L. Cunningham +1 more
2011American Journal of Medical Genetics. Part A413 citations Open access
Semantic Scholar
Microtia-Anotia: A Global Review of Prevalence Rates
Daniela V Luquetti, E. Leoncini, P. Mastroiacovo
2011Birth defects research. Clinical and molecular teratology216 citations Open access
Semantic Scholar
The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research
T. Cox, Esra D. Camci, Siddharth R. Vora, Daniela V Luquetti +1 more
2014European Journal of Medical Genetics100 citations Open access
Semantic Scholar
Haploinsufficiency of SF3B2 causes craniofacial microsomia
A. Timberlake, Ca Griffin, C. Heike, A. Hing +25 more
2021Nature Communications78 citations Open access
Semantic Scholar
Craniofacial Microsomia Overview
C. Heike, Daniela V Luquetti, A. Hing
201477 citations
Semantic Scholar
“Mandibulofacial Dysostosis with Microcephaly” Caused by EFTUD2 Mutations: Expanding the Phenotype
Daniela V Luquetti, A. Hing, M. Rieder, D. Nickerson +4 more
2012American Journal of Medical Genetics. Part A72 citations Open access
Semantic Scholar
Clinical care in craniofacial microsomia: A review of current management recommendations and opportunities to advance research
C. Heike, A. Hing, C. Aspinall, Scott P. Bartlett +7 more
2013American Journal of Medical Genetics. Part C, Seminars in Medical Genetics58 citations
Semantic Scholar
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
F. Lonardo, G. Parenti, Daniela V Luquetti, Ida Annunziata +7 more
2007European Journal of Medical Genetics42 citations
Semantic Scholar
Quality of reporting on birth defects in birth certificates: case study from a Brazilian reference hospital.
Daniela V Luquetti, R. Koifman
2009Cadernos de Saúde Pública38 citations Open access
Semantic Scholar
Characterizing Facial Features in Individuals with Craniofacial Microsomia: A Systematic Approach for Clinical Research
C. Heike, Erin R. Wallace, M. L. Speltz, B. Siebold +6 more
2016Birth defects research. Clinical and molecular teratology34 citations
Semantic Scholar
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
L. Quina, T. Kuramoto, Daniela V Luquetti, T. Cox +2 more
2012Disease Models & Mechanisms31 citations Open access
Semantic Scholar
Risk Factors and Demographics for Microtia in South America: a Case-Control Analysis
Daniela V Luquetti, B. Saltzman, J. López-Camelo, M. da Graça Dutra +1 more
2013Birth defects research. Clinical and molecular teratology30 citations Open access
Semantic Scholar
Preferential Associated Anomalies in 818 Cases of Microtia in South America
Daniela V Luquetti, T. Cox, J. López-Camelo, M. da Graça Dutra +2 more
2013American Journal of Medical Genetics. Part A30 citations Open access
Semantic Scholar
[Quality of birth defect reporting in the Brazilian Information System on Live Births (SINASC): a comparative study of 2004 and 2007].
Daniela V Luquetti, R. Koifman
2010Cadernos de Saúde Pública30 citations Open access
Semantic Scholar
Healthcare and Psychosocial Experiences of Individuals with Craniofacial Microsomia: Patient and Caregivers Perspectives
Daniela V Luquetti, Michelle R Brajcich, N. Stock, C. Heike +1 more
2018International Journal of Pediatric Otorhinolaryngology28 citations Open access
Semantic Scholar
Temporal trend in the reported birth prevalence of cleft lip and/or cleft palate in Brazil, 2000 to 2013.
M. H. Abreu, Kyu Ha Lee, Daniela V Luquetti, J. Starr
2016Birth defects research. Clinical and molecular teratology28 citations
Semantic Scholar
Hearing Loss in Children with Craniofacial Microsomia
Ryan M. Mitchell, B. Saltzman, S. Norton, R. G. Harrison +3 more
2017The Cleft Palate-Craniofacial Journal27 citations
Semantic Scholar
Reliable classification of facial phenotypic variation in craniofacial microsomia: a comparison of physical exam and photographs
C. Birgfeld, C. Heike, B. Saltzman, B. Leroux +2 more
2016Head & Face Medicine26 citations Open access
Semantic Scholar
Intelligence and academic achievement of adolescents with craniofacial microsomia
M. L. Speltz, Erin R. Wallace, B. Collett, C. Heike +2 more
2017Plastic and Reconstructive Surgery25 citations Open access
Semantic Scholar
MYT1 role in the microtia‐craniofacial microsomia spectrum
Daniela V Luquetti, C. Heike, I. Zarante, A. Timms +8 more
2020Molecular Genetics & Genomic Medicine24 citations Open access
Semantic Scholar
In Their Own Words: Caregiver and Patient Perspectives on Stressors, Resources, and Recommendations in Craniofacial Microsomia Care
Alexis L. Johns, Daniela V Luquetti, Michelle R Brajcich, C. Heike +1 more
2018The Journal of craniofacial surgery (Print)24 citations Open access
Semantic Scholar
Fraser and Ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1
D. Cavalcanti, V. Matejas, Daniela V Luquetti, M. F. Mello +1 more
2007American Journal of Medical Genetics. Part A24 citations
Semantic Scholar
Microtia and craniofacial microsomia: Content analysis of facebook groups.
Hailey Umbaugh, C. Crerand, N. Stock, Daniela V Luquetti +4 more
2020International Journal of Pediatric Otorhinolaryngology20 citations Open access
Semantic Scholar
Methods and challenges in a cohort study of infants and toddlers with craniofacial microsomia: the CLOCK study
Daniela V Luquetti, M. L. Speltz, Erin R. Wallace, B. Siebold +10 more
2019The Cleft Palate-Craniofacial Journal20 citations
Semantic Scholar
Perspectives and Challenges in Advancing Research Into Craniofacial Anomalies
T. Cox, Daniela V Luquetti, M. Cunningham
2013American Journal of Medical Genetics. Part C, Seminars in Medical Genetics19 citations Open access
Semantic Scholar
Damaging variants in FOXI3 cause microtia and craniofacial microsomia
D. Quiat, A. Timberlake, Justin J. Curran, M. Cunningham +22 more
2022Genetics in Medicine18 citations Open access
Semantic Scholar
Comparison of Two-Dimensional and Three-Dimensional Images for Phenotypic Assessment of Craniofacial Microsomia
C. Birgfeld, B. Saltzman, Daniela V Luquetti, Kerry P. Latham +2 more
2013The Cleft Palate-Craniofacial Journal17 citations
Semantic Scholar
Neurodevelopment of Infants with and without Craniofacial Microsomia
M. L. Speltz, K. Kapp-Simon, Alexis L. Johns, Erin R. Wallace +5 more
2018Jornal de Pediatria16 citations Open access
Semantic Scholar
Cognitive, Motor and Language Development of Preschool Children with Craniofacial Microsomia
B. Collett, Erin R. Wallace, K. Kapp-Simon, Alexis L. Johns +8 more
2020The Cleft Palate-Craniofacial Journal12 citations Open access
Semantic Scholar
Interrater reliability of a Phenotypic Assessment Tool for the Ear Morphology in Microtia
Daniela V Luquetti, B. Saltzman, Kathleen C. Y. Sie, C. Birgfeld +6 more
2013American Journal of Medical Genetics. Part A12 citations Open access
Semantic Scholar
Evaluation of ICD-9-CM Codes for Craniofacial Microsomia
Daniela V Luquetti, B. Saltzman, Daniela Vivaldi, L. Pimenta +4 more
2012Birth defects research. Clinical and molecular teratology12 citations Open access
Semantic Scholar
Gillespie Syndrome: Additional Findings and Parental Consanguinity
Daniela V Luquetti, Ruy Pires Oliveira-Sobrinho, V. L. Gil-da-Silva-Lopes
2007Ophthalmic Genetics11 citations
Semantic Scholar
Evaluation of Prenatal Diabetes Mellitus and Other Risk Factors for Craniofacial Microsomia.
B. Siebold, C. Heike, B. Leroux, M. L. Speltz +5 more
2019Birth Defects Research9 citations Open access
Semantic Scholar
Surveillance of birth defects: Brazil and the US.
Daniela V Luquetti, R. Koifman
2011Ciência & Saúde Coletiva8 citations Open access
Semantic Scholar
Phenotypic characterization of epibulbar dermoids
B. Walker, B. Saltzman, E. Herlihy, Daniela V Luquetti
2017International ophtalmology7 citations
Semantic Scholar
Validity and reliability of the Brazilian birth certificate for reporting birth defects.
Daniela V Luquetti, R. Koifman
2010Journal of registry management6 citations
Semantic Scholar
Congenital Temporomandibular Joint Ankylosis: Clinical Characterization and Natural History of Four Unrelated Affected Individuals
V. L. Gil-da-Silva-Lopes, Daniela V Luquetti
2005The Cleft Palate-Craniofacial Journal6 citations
Semantic Scholar
Craniofacial Microsomia Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY
C. Heike, Daniela V Luquetti, A. Hing
19936 citations
Semantic Scholar
Parental Reports of Intervention Services and Prevalence of Teasing in a Multinational Craniofacial Microsomia Pediatric Study
Alexis L. Johns, Daniela V Luquetti, C. Heike, A. Drake +6 more
2021The Journal of craniofacial surgery (Print)5 citations Open access
Semantic Scholar
Behavioral Adjustment of Preschool Children with and without Craniofacial Microsomia
Alexis L. Johns, Erin R. Wallace, B. Collett, K. Kapp-Simon +8 more
2020The Cleft Palate-Craniofacial Journal5 citations Open access
Semantic Scholar
Phenotypic Sub-Grouping in Microtia Using a Statistical and a Clinical Approach
Daniela V Luquetti, B. Saltzman, C. Heike, Kathleen C. Y. Sie +3 more
2015American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
1. Mutations in FOXI3 Cause Microtia and Craniofacial Microsomia
A. Timberlake, D. Quiat, M. Cunningham, J. Persing +4 more
2023Plastic and Reconstructive Surgery, Global Open1 citations Open access
Semantic Scholar
Figure 3. [(A) Frontal and (B) lateral...].
C. Heike, Daniela V Luquetti, A. Hing
20141 citations
Semantic Scholar
Deletion of a conserved regulatory element required for Hmx 1 expression in craniofacial mesenchyme in the dumbo rat : a novel cause of congenital ear malformation
L. Quina, T. Kuramoto, Daniela V Luquetti, T. Cox +2 more
20121 citations
Semantic Scholar
Nitisinone for the treatment of alkaptonuria: FDA approval summary
Daniela V Luquetti, E. Morris
2026Molecular Genetics and Metabolism0 citations
Semantic Scholar
Doxecitine and doxribtimine for the treatment of TK2 deficiency: FDA approval summary
Daniela V Luquetti, Wonyul Lee
2026Molecular Genetics and Metabolism0 citations
Semantic Scholar
PC16. Mutations in FOXI3 Cause Microtia and Craniofacial Microsomia
A. Timberlake, D. Quiat, M. Cunningham, J. Persing +4 more
2023Plastic and Reconstructive Surgery, Global Open0 citations Open access
Semantic Scholar
The FACIAL network as a model of craniofacial team science
A. Drake, Daniela V Luquetti, Lauren A. Kilpatrick, C. Birgfeld +8 more
2018Global Dentistry0 citations Open access
Semantic Scholar
Table3. [Minimal Diagnostic Criteria Used in Select Studies Assessing Risk Factors for CFM].
C. Heike, Daniela V Luquetti, A. Hing
20140 citations
Semantic Scholar
Table 5. [Oculo-Auriculo-Vertebral Spectrum Findings in Families...].
C. Heike, Daniela V Luquetti, A. Hing
20140 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

C. Heike×30
Invite
C. Heike — researcher profile on SciRah
A. Hing×13
Invite
A. Hing — researcher profile on SciRah
Alexis L. Johns×11
Invite
Alexis L. Johns — researcher profile on SciRah
A. Drake×8
Invite
A. Drake — researcher profile on SciRah

×8

Invite

B. Saltzman — researcher profile on SciRah

Invite

L. Magee — researcher profile on SciRah

M. L. Speltz×7

Invite

M. L. Speltz — researcher profile on SciRah

Invite

B. Leroux — researcher profile on SciRah

Erin R. Wallace×6

Invite

Erin R. Wallace — researcher profile on SciRah

Invite

C. Birgfeld — researcher profile on SciRah

Invite

B. Collett — researcher profile on SciRah

Invite

K. Sie — researcher profile on SciRah