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Ilária Cristina Sgardioli

Observed names: I Sgardioli, I. C. Sgardioli, ILÁRIA CRISTINA SGARDIOLI, Ilaria Cristina Sgardioli, Ilária C. Sgardioli, Ilária Sgardioli, Sgardioli, Ilária Cristina
ORCID: 0000-0002-7253-7830
Observed ORCID: 0000-0002-7253-7830
OpenAlex ID: A5047425363
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature
2013 · Fabíola P. Monteiro, Társis P. Vieira, et al. · European Journal of Pediatrics · 71
A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion
2013 · Ilária Cristina Sgardioli, Milena Simioni, et al. · Gene · 41
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Genomic imbalances in syndromic congenital heart disease
2017 · Miriam Coelho Molck, Milena Simioni, et al. · Jornal de Pediatria · 40
Clinical Features in Patients with 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities
2014 · Társis P. Vieira, Fabíola P. Monteiro, et al. · The Cleft Palate-Craniofacial Journal · 28
Insertional translocation of 15q25‐q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia
2012 · Milena Simioni, Társis Paiva Vieira, et al. · American Journal of Medical Genetics Part A · 21
Atypical copy number abnormalities in 22q11.2 region: Report of three cases
2013 · Miriam Coelho Molck, Társis Paiva Vieira, et al. · European Journal of Medical Genetics · 20
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Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health
2019 · Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, et al. · Orphanet Journal of Rare Diseases · 18
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Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing
2012 · Társis Paiva Vieira, Ilária Cristina Sgardioli, et al. · Journal of Community Genetics · 16
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Improved Detection of H elicobacter pylori DNA in Formalin‐fixed Paraffin‐embedded ( FFPE ) Tissue of Patients with Hepatocellular Carcinoma Using Laser Capture Microdissection ( LCM )
2013 · Elizabeth Maria Afonso Rabelo‐Gonçalves, Ilária C. Sgardioli, et al. · Helicobacter · 14
Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases
2017 · Ilária C. Sgardioli, Matheus de Mello Copelli, et al. · Molecular Syndromology · 12
22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening
2015 · Ilária Sgardioli, Társis Vieira, et al. · Journal of Pediatric Genetics · 12
Genomic imbalances in craniofacial microsomia
2020 · Samira Spineli‐Silva, Ilária C. Sgardioli, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 11
Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome
2020 · Vera Lúcia Gil‐da‐Silva‐Lopes, Milena Atique Tacla, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 10
Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances
2019 · L. C. de Souza, A. P. dos Santos, et al. · Journal of Intellectual Disability Research · 10
A recognizable phenotype related to 19p13.12 microdeletion
2018 · Laiara Cristina de Souza, Ilária Cristina Sgardioli, et al. · American Journal of Medical Genetics Part A · 10
Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes
2017 · Milena Simioni, François Artiguenave, et al. · Molecular Syndromology · 10
Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: A case report
2014 · Miriam Coelho Molck, Társis Paiva Vieira, et al. · American Journal of Medical Genetics Part A · 10
Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis
2022 · Gabriela Roldão Correia-Costa, Ilária Cristina Sgardioli, et al. · Genetics and Molecular Biology · 5
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Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration
2022 · Gabriela Roldão Correia‐Costa, Nicole de Leeuw, et al. · Clinical Genetics · 4
Pure 21q22.3 deletion identified in a patient with mild phenotypic features
2018 · Ilária Cristina Sgardioli, Matheus de Melo Copelli, et al. · Congenital Anomalies · 4
Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort
2023 · M. Zamariolli, A. G. Dantas, et al. · American Journal of Medical Genetics Part A · 3
Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability
2023 · Carolina Gama Nascimento, Joana Rosa Marques Prota, et al. · Genes · 2
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A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3
2018 · Ilária C. Sgardioli, Elaine Lustosa-Mendes, et al. · Cytogenetic and Genome Research · 2
B-314 ClinVar-Synchronized Clinical Variant Reinterpretation with Risk-Tiered Discordance Triage: Real-World Evaluation Using the Variant Investigation and Validation Analysis Suite (VIVAS), 2020-2025
2026 · Gustavo Barra, Pedro Mesquita, et al. · Clinical Chemistry
B-313 Validation of the MGISP-100 Automation Platform for Pre-Capture NGS Library Preparation in Clinical Workflows
2026 · Gustavo Barra, Pedro Mesquita, et al. · Clinical Chemistry
Works count: 47
Citation count: 374
H-index: 11
I10-index: 17
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