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Chiara Barone

Observed names: Barone, Chiara, C Barone, C. Barone, CHIARA BARONE
ORCID: 0009-0003-8029-6509
Observed ORCID: 0009-0003-8029-6509
OpenAlex ID: A5049557832
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)
2020 · Ilaria Baldelli, Alessio Baccarani, et al. · Orphanet Journal of Rare Diseases · 57
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Carrier screening for spinal muscular atrophy in Italian population
2014 · FRANCESCO CALÌ, GIUSEPPA RUGGERI, et al. · Journal of Genetics · 28
Prenatal Diagnosis of Androgen Insensitivity Syndrome
2009 · S. Bianca, A. Cataliotti, et al. · Fetal Diagnosis and Therapy · 26
No association between apolipoprotein E polymorphisms and recurrent pregnancy loss
2009 · Sebastiano Bianca, Barbara Barrano, et al. · Fertility and Sterility · 24
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ALG12-CDG: novel glycophenotype insights endorse the molecular defect
2019 · Luisa Sturiale, Sebastiano Bianca, et al. · Glycoconjugate Journal · 21
Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems
2013 · Chiara Barone, Sebastiano Bianca, et al. · American Journal of Medical Genetics Part A · 18
Consensus Document of the Italian Association of Hospital Cardiologists (ANMCO), Italian Society of Pediatric Cardiology (SICP), and Italian Society of Gynaecologists and Obstetrics (SIGO): pregnancy and congenital heart diseases
2017 · Innocenzo Bianca, Giovanna Geraci, et al. · European Heart Journal Supplements · 17
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Variability in a three‐generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16
2015 · Marco Castori, Irene Bottillo, et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 16
Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects
2021 · Valentina Guida, Francesca Piceci Sparascio, et al. · Clinical Genetics · 15
Unexplained infertility and inherited thrombophilia
2009 · S. Bianca, B. Barrano, et al. · Fertility and Sterility · 15
Familial nuchal cystic hygroma without fetal effects: Genetic counselling and further evidence for an autosomal recessive subtype
2010 · Sebastiano Bianca, Giovanni Bartoloni, et al. · Congenital Anomalies · 13
Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily
2022 · Stefania Stella, Silvia Rita Vitale, et al. · Cancer Management and Research · 12
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Further Evidence of No Association between Spinal Muscular Atrophy and Increased Nuchal Translucency
2012 · Chiara Barone, Sebastiano Bianca · Fetal Diagnosis and Therapy · 12
In Silico Prediction of BRCA1 and BRCA2 Variants with Conflicting Clinical Interpretation in a Cohort of Breast Cancer Patients
2024 · Stefania Stella, Silvia Rita Vitale, et al. · Genes · 11
[Updating of the prevalence of congenital anomalies among resident births in the Municipality of Gela (Southern Italy)].
2014 · Fabrizio Bianchi, Sebastiano Bianca, et al. · PubMed · 11
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism
2019 · Maria Garzo, Ilaria Catusi, et al. · European Journal of Medical Genetics · 10
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6
2019 · Emanuele Agolini, Claudio Cherchi, et al. · Clinical Genetics · 8
Fetal upper limb amelia with increased nuchal translucency
2009 · Sebastiano Bianca, Giovanni Bartoloni, et al. · Congenital Anomalies · 8
Congenital perineal hernia in a fetus with X monosomy
2009 · Sebastiano Bianca, Giovanni Bartoloni, et al. · Congenital Anomalies · 7
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15q11.2 microdeletion and hypoplastic left heart syndrome
2015 · Chiara Barone, Antonio Novelli, et al. · European Journal of Medical Genetics · 6
An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs
2015 · Chiara Barone, Antonio Novelli, et al. · American Journal of Medical Genetics Part A · 6
Novel c.358 C > T mutation of SOX 9 gene in prenatal diagnosis of campomelic dysplasia
2014 · Chiara Barone, Giovanni Bartoloni, et al. · Congenital Anomalies · 4
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Craniorachischisis and Heterotaxia with Heart Disease in Twins: Link or Change Nature?
2010 · Sebastiano Bianca, Giovanni Bartoloni, et al. · Congenital Heart Disease · 4
Hereditary haemorrhagic telangiectasia and genetic thrombophilia
2009 · S Bianca, N Cutuli, et al. · European Journal of Human Genetics · 4
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Congenital Cataract and Heart Septal Defects: Are Contiguous or Reciprocally Influenced Genes Involved?
2009 · Sebastiano Bianca, Barbara Barrano, et al. · Congenital Heart Disease · 4
Works count: 39
Citation count: 366
H-index: 12
I10-index: 16
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