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D. Carvalho · SciRah

Researcher profile · Semantic Scholar

D. Carvalho

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D. Carvalho — researcher profile on SciRah

h-index: 17
Works: 39
Citations: 1,875

Most-cited papers

Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Y. Crow, D. Chase, Johanna L. Schmidt, M. Szynkiewicz +132 more
2015American Journal of Medical Genetics. Part A562 citations Open access
Semantic Scholar
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
G. Rice, T. Patrick, R. Parmar, Claire F. Taylor +114 more
2007American Journal of Human Genetics436 citations Open access
Semantic Scholar
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator
L. Allou, Sara Balzano, Andreas Magg, M. Quinodoz +29 more
2021Nature100 citations Open access
Semantic Scholar
Mutations in ZBTB20 cause Primrose syndrome
Viviana Cordeddu, B. Redeker, E. Stellacci, A. Jongejan +23 more
2014Nature Genetics99 citations
Semantic Scholar
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Saskia M. Maas, A. Shaw, H. Bikker, Hermann-Josef Lüdecke +43 more
2015European Journal of Medical Genetics86 citations Open access
Semantic Scholar
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
C. Ferreira, Zhi-Jie Xia, A. Clément, David A. Parry +50 more
2018American Journal of Human Genetics67 citations Open access
Semantic Scholar
Clinical features and neurologic progression of hyperargininemia.
D. Carvalho, J. M. Brum, C. Speck-Martins, F. D. Ventura +4 more
2012Pediatric Neurology53 citations
Semantic Scholar
Homozygosity enhances severity in spinocerebellar ataxia type 3.
D. Carvalho, Alessandra La Rocque-Ferreira, I. Rizzo, E. U. Imamura +1 more
2008Pediatric Neurology49 citations
Semantic Scholar
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency
M. Huemer, D. Carvalho, J. M. Brum, Ö. Ünal +12 more
2016Journal of Inherited Metabolic Disease39 citations Open access
Semantic Scholar
Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients
D. Carvalho, M. Navarro, B. Martins, K. E. Coêlho +3 more
2010Clinical Genetics37 citations
Semantic Scholar
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.
D. Carvalho, G. Brand, J. M. Brum, R. I. Takata +2 more
2012Gene34 citations
Semantic Scholar
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome
G. H. Vieira, Jayson D. Rodriguez, P. Carmona-Mora, Lei Cao +9 more
2011European Journal of Human Genetics30 citations Open access
Semantic Scholar
Primrose syndrome: Characterization of the phenotype in 42 patients
D. Melis, D. Carvalho, T. Barbaro-Dieber, A. Espay +26 more
2020Clinical Genetics27 citations Open access
Semantic Scholar
TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
D. Carvalho, S. C. Santos, B. Martins, F. J. Marques
2015Brain : a journal of neurology22 citations
Semantic Scholar
Craniofacial findings in fibrodysplasia ossificans progressiva: computerized tomography evaluation.
D. Carvalho, L. Farage, B. Martins, C. Speck-Martins
2011Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics22 citations
Semantic Scholar
Additional features of unique Primrose syndrome phenotype
D. Carvalho, C. Speck-Martins
2011American Journal of Medical Genetics. Part A19 citations
Semantic Scholar
Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients.
B. F. Gamba, G. H. Vieira, D. H. Souza, F. Monteiro +3 more
2011Genetics and Molecular Research18 citations Open access
Semantic Scholar
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1
D. Carvalho, C. Speck-Martins, J. M. Brum, C. Ferreira +1 more
2020American Journal of Medical Genetics. Part A17 citations Open access
Semantic Scholar
Charcot‐Marie‐Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center
Eduardo Boiteux Uchôa Cavalcanti, Savana Camilla de Lima Santos, C. E. Martins, D. Carvalho +6 more
2021Journal of the peripheral nervous system16 citations
Semantic Scholar
Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.
D. Carvalho, J. Medeiros, D. Ribeiro, B. Martins +1 more
2018European Journal of Medical Genetics15 citations
Semantic Scholar
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
K. Abe, I. Rizzo, A. L. Coelho, Nilo Sakai +2 more
2018Clinical Case Reports15 citations Open access
Semantic Scholar
Brain MRI and Magnetic Resonance Spectroscopy Findings in Patients with Hyperargininemia
D. Carvalho, L. Farage, B. J. Martins, J. M. Brum +2 more
2014Journal of Neuroimaging14 citations
Semantic Scholar
Defining the clinical phenotype of Saul-Wilson syndrome.
C. Ferreira, W. Zein, Laryssa A. Huryn, Andrea Merker +27 more
2020Genetics in Medicine13 citations Open access
Semantic Scholar
Tibial hemimelia in Langer–Giedion syndrome with 8q23.1‐q24.12 interstitial deletion
D. Carvalho, S. C. Santos, Mariana Oliveira, Carlos Eduardo Speck-Martins
2011American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
Phenotypic, Molecular, and Functional Characterization of CoQ7-Related Primary CoQ10 Deficiency: Novel Hypomorphic Variants and Two Distinct Disease Entities
Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, Sheel Pathak +9 more
2023Molecular Genetics and Metabolism11 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
Unique skeletal manifestations in patients with Primrose syndrome
V. Arora, Eyby Leon, Jullianne Diaz, H. Hove +8 more
2020European Journal of Medical Genetics10 citations Open access
Semantic Scholar
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex
L. G. Dufner-Almeida, L. Cardozo, M. Schwind, D. Carvalho +12 more
2024Genes9 citations Open access
Semantic Scholar
Mandibular hypoplasia in fibrodysplasia ossificans progressiva causing obstructive sleep apnoea with pulmonary hypertension.
D. Carvalho, G. Pinnola, D. R. A. Ferreira, P. S. Beraldo +4 more
2010Clinical Dysmorphology8 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
Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication
D. Carvalho, A. L. L. Moretto, M. Schneider, L. M. Formigli
2021Cytogenetic and Genome Research3 citations
Semantic Scholar
Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome
Éliane Beauregard-Lacroix, A. Scott, Thi Tuyet Mai Nguyen, K. Wierenga +8 more
2024Genetics in medicine open2 citations Open access
Semantic Scholar
Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant
D. Carvalho, C. Speck-Martins, B. J. Martins, Ana Paula Izumi +1 more
2021Journal of Pediatric Genetics2 citations Open access
Semantic Scholar
Clinical and Molecular Features of Patients with Congenital Disorders of Glycosylation in Brazil
J. M. Brum, I. Rizzo, D. Carvalho, A. L. Coelho +7 more
20132 citations
Semantic Scholar
P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7
Parith Wongkittichote, Laura Lasio, Martina Magistrati, Sheel Pathak +9 more
2023Genetics in Medicine Open1 citations Open access
Semantic Scholar
The signature of craniofacial deformation in fibrodysplasia ossificans progressiva
D. Carvalho, L. Farage, Carlos Eduardo Speck-Martins
2012American Journal of Medical Genetics. Part A1 citations
Semantic Scholar
12324 Clinical Features And PHEX Variants Of Adults With X-Linked Hypophosphatemia
L. P. Valadares, D. Carvalho, F. S. Lopes, R. Oliveira +1 more
2024Journal of the Endocrine Society0 citations Open access
Semantic Scholar
Occipital encephalocele and hypoplastic thumb: a nonrandom association of malformations.
D. Carvalho, I. Rizzo, L. Farage, Araci L C Barros +1 more
2008Clinical Dysmorphology0 citations
Semantic Scholar

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