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D. Cavalcanti · SciRah

Researcher profile · Semantic Scholar

D. Cavalcanti

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D. Cavalcanti — researcher profile on SciRah

h-index: 22
Works: 66
Citations: 2,672

Most-cited papers

Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.
L. Schuler-faccini, E. Ribeiro, Ian M. L. Feitosa, D. Horovitz +11 more
2016MMWR. Morbidity and mortality weekly report932 citations Open access
Semantic Scholar
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
N. Dagoneau, Marie Goulet, D. Geneviève, Y. Sznajer +12 more
2009American Journal of Human Genetics229 citations Open access
Semantic Scholar
The phenotypic spectrum of congenital Zika syndrome
M. Del Campo, Ian M. L. Feitosa, E. Ribeiro, D. Horovitz +22 more
2017American Journal of Medical Genetics. Part A190 citations Open access
Semantic Scholar
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
M. Nakajima, S. Mizumoto, N. Miyake, R. Kogawa +27 more
2013American Journal of Human Genetics118 citations Open access
Semantic Scholar
Rare genetic diseases: update on diagnosis, treatment and online resources.
R. Pogue, D. Cavalcanti, Shreya Shanker, R. Andrade +3 more
2018Drug Discovery Today84 citations
Semantic Scholar
Clinical epidemiology of skeletal dysplasias in South America
Cecília O. Barbosa-Buck, I. Orioli, M. da Graça Dutra, J. López-Camelo +2 more
2012American Journal of Medical Genetics. Part A78 citations Open access
Semantic Scholar
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
D. Cavalcanti, C. Huber, Kim-Hanh le Quan Sang, G. Baujat +9 more
2009Journal of Medical Genetics72 citations
Semantic Scholar
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
J. El Hokayem, C. Huber, Adeline Couvé, J. Aziza +19 more
2012Journal of Medical Genetics69 citations
Semantic Scholar
Thalidomide, a current teratogen in South America
E. Castilla, P. Ashton-Prolla, E. Barreda-Mejia, D. Brunoni +19 more
199661 citations
Semantic Scholar
Thalidomide, a current teratogen in South America.
E. Castilla, P. Ashton-Prolla, E. Barreda-Mejia, D. Brunoni +19 more
1996Teratology61 citations
Semantic Scholar
Limb anomalies following chorionic villus sampling: a registry based case-control study.
P. Mastroiacovo, LorenzoD Botto, D. Cavalcanti, F. Lalatta +7 more
1992American journal of medical genetics59 citations
Semantic Scholar
Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Shahida Moosa, G. Yamamoto, L. Garbes, Katharina Keupp +29 more
2019American Journal of Human Genetics53 citations Open access
Semantic Scholar
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
C. Huber, E. Faqeih, D. Bartholdi, C. Bôle-Feysot +12 more
2013American Journal of Human Genetics53 citations Open access
Semantic Scholar
Non‐immune hydrops fetalis: A prospective study of 53 cases
C. A. Moreno, T. Kanazawa, R. Barini, M. Nomura +6 more
2013American Journal of Medical Genetics. Part A46 citations
Semantic Scholar
Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome
C. A. Moreno, N. Sobreira, E. Pugh, Peng Zhang +3 more
2018European Journal of Human Genetics43 citations Open access
Semantic Scholar
Limb reduction defects in South America
E. E. Castilla, D. Cavalcanti, M. G. Dutra, J. López-Camelo +2 more
1995British Journal of Obstetrics and Gynaecology42 citations
Semantic Scholar
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation
F. Jehee, A. C. Krepischi-Santos, K. Rocha, D. Cavalcanti +10 more
2008Journal of Medical Genetics35 citations
Semantic Scholar
[Incidence of congenital hydrocephalus and the role of the prenatal diagnosis].
D. Cavalcanti, M. A. Salomão
2003Jornal de Pediatria32 citations Open access
Semantic Scholar
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Hae Ryung Chang, S. Cho, Jae Hoon Lee, Eunkyung Lee +31 more
2019American Journal of Human Genetics26 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
Inflammation markers in the saliva of infants born from Zika-infected mothers: exploring potential mechanisms of microcephaly during fetal development
D. D. de Oliveira, Estela O. Lima, C. F. O. R. Melo, J. Delafiori +15 more
2019Scientific Reports22 citations Open access
Semantic Scholar
Downregulation of 14q32 microRNAs in Primary Human Desmoplastic Medulloblastoma
D. Lucon, Cristiane de Souza Rocha, Rogerio B Craveiro, D. Dilloo +5 more
2013Frontiers in Oncology22 citations Open access
Semantic Scholar
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region
T. F. Araujo, E. Ribeiro, A. P. Arruda, C. A. Moreno +8 more
2016European Journal of Medical Research21 citations Open access
Semantic Scholar
Tetrasomy 9p caused by idic (9) (pter----q13----pter).
D. Cavalcanti, Íris Ferrari, J. C. D. de Almeida, J. M. de Pina +2 more
1987American journal of medical genetics21 citations
Semantic Scholar
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII
F. Kubaski, A. Brusius-Facchin, R. W. Mason, Pravin Patel +9 more
2017Prenatal Diagnosis20 citations Open access
Semantic Scholar
Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia
M. E. Gomes, T. Kanazawa, F. R. Riba, N. Pereira +7 more
2018Molecular Syndromology19 citations Open access
Semantic Scholar
Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients
F. Jehee, L. Alonso, D. Cavalcanti, C. Kim +7 more
2006The Cleft Palate-Craniofacial Journal19 citations Open access
Semantic Scholar
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
Dominyka Batkovskyte, Fiona McKenzie, F. Taylan, P. O. Simsek-Kiper +28 more
2023Journal of Bone and Mineral Research16 citations Open access
Semantic Scholar
Molecular findings in Brazilian patients with osteogenesis imperfecta.
Fernanda C. Reis, F. Alexandrino, C. Steiner, D. Norato +2 more
2005Journal of Applied Genetics14 citations
Semantic Scholar
CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies.
Roberta M Volpe-Aquino, I. Monlleó, E. Lustosa-Mendes, A. F. Mora +10 more
2018Birth Defects Research13 citations
Semantic Scholar
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients
Juan Llerena, C. Kim, V. Fano, P. Rosselli +14 more
2022BMC Pediatrics12 citations Open access
Semantic Scholar
Skeletal dysplasias in Latin America
D. Cavalcanti, V. Fano, C. Mellado, M. D. Lacarrubba-Flores +9 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics12 citations Open access
Semantic Scholar
Scalp lesions in Turner syndrome: a result of lymphoedema?
M. P. Auada, M. Cintra, M. Puzzi, D. Viana +1 more
2004Clinical Dysmorphology12 citations
Semantic Scholar
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A
C. Medina, R. Sandoval, G. Oliveira, Karina Costa Silveira +2 more
2020American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair
M. D. Lacarrubba-Flores, D. Carvalho, E. Ribeiro, C. A. Moreno +4 more
2018American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
Severe neurologic manifestations from cervical spine instability in spondylo‐megaepiphyseal‐metaphyseal dysplasia
Marleen E. H. Simon, Ana Belinda Campos-Xavier, L. Mittaz-Crettol, E. Valadares +11 more
2012American Journal of Medical Genetics. Part C, Seminars in Medical Genetics11 citations
Semantic Scholar
Two cases of Y; autosome translocations: A 45,X male and a clinically trisomy 18 patient.
S. Farah, Clarisa F. Ramos, M. D. de Mello, E. Sartorato +4 more
1994American journal of medical genetics11 citations
Semantic Scholar
Molecular analysis of holoprosencephaly in South America
Clarice Pagani Savastano, K. El-Jaick, M. A. Costa-Lima, Cristina Maria Batista Abath +10 more
2013Genetics and Molecular Biology10 citations Open access
Semantic Scholar
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
G. Di Lorenzo, L. Westermann, T. Yorgan, J. Stürznickel +28 more
2021Genetics in Medicine9 citations Open access
Semantic Scholar
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias
Karina C. Silveira, T. Kanazawa, Cynthia Silveira, M. D. Lacarrubba-Flores +2 more
2021American Journal of Medical Genetics. Part C, Seminars in Medical Genetics9 citations
Semantic Scholar
Identification of genomic imbalances in oral clefts
E. Lustosa-Mendes, A. D. Dos Santos, T. Vieira, E. Ribeiro +6 more
2020Jornal de Pediatria9 citations Open access
Semantic Scholar
Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects
D. Lucon, L. Zanchetta, D. Cavalcanti
20069 citations Open access
Semantic Scholar
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations
E. Mattos, M. T. Sanseverino, J. A. Magalhães, J. C. Leite +4 more
2014Genetics and Molecular Biology8 citations Open access
Semantic Scholar
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation
Cynthia Silveira, Karina da Costa Silveira, M. D. Lacarrubba-Flores, M. T. Sakata +4 more
2022Molecular Syndromology7 citations
Semantic Scholar
Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.
L. Bernardini, A. Capalbo, M. D'Avanzo, I. Torrente +5 more
2007European Journal of Medical Genetics6 citations
Semantic Scholar
Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome
C. A. Moreno, N. Sobreira, E. Pugh, P. Zhang +3 more
2018European Journal of Human Genetics5 citations Open access
Semantic Scholar
Interphase-FISH study in three patients with tetraploid/diploid mosaicism.
D. Cavalcanti, L. Zanchetta
2004European Journal of Medical Genetics5 citations
Semantic Scholar
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so‐called Young‐Simpson syndrome
F. Brancati, L. Bernardini, D. Cavalcanti, C. Romano +2 more
2009Clinical Genetics4 citations
Semantic Scholar
molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum
D. Cavalcanti, C. Huber, Kim-Hanh le Quan Sang, G. Baujat +8 more
20094 citations
Semantic Scholar
Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review.
L. Moreira, D. Carvalho, S. C. Santos, C. C. E. Silva +6 more
2023Modern Rheumatology3 citations
Semantic Scholar

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