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European Journal of Medical Genetics|December 31, 2017
Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature reviewSamira Spineli-Silva, Luciana M Bispo, Vera L Gil-da-Silva-Lopes, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|May 15, 2023
Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye SyndromeSamira Spineli-Silva, Isabella L Monlleó, Têmis M Félix, et al.
Genes|April 28, 2023
Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual DisabilityCarolina Gama Nascimento, Joana Rosa Marques Prota, Ilária Cristina Sgardioli, et al.
Psychiatric Genetics|March 12, 2025
A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature reviewSamira Spineli-Silva, Nicole de Leeuw, Larissa B Pontes, et al.
Genes|February 24, 2024
Variants in <i>KMT2A</i> in Three Individuals with Previous Suspicion of 22q11.2 Deletion SyndromeHenrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, et al.
American Journal of Medical Genetics. Part A|January 15, 2025
SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New FamilySamira Spineli-Silva, Larissa Bretanha Pontes, Nicole de Leeuw, et al.
Congenital Anomalies|April 26, 2021
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of casesLuna Lira Bergamini, Samira Spineli-Silva, Têmis Maria Félix, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 20, 2020
Genomic imbalances in craniofacial microsomiaSamira Spineli-Silva, Ilária C Sgardioli, Ana P Dos Santos, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Novel variants in the SOX11 gene: clinical description of seven new patientsBeatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli-Silva, et al.
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