Sebastiano Bianca

ARNAS Garibaldi Nesima, CT
Catania, Italy

Last Updated: 09/26/2026

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Found 47 publications

Transforming clinical trials in rare genetic diseases through telemedicine.

Transforming clinical trials in rare genetic diseases through telemedicine.

Journal: Journal of community genetics

Published: June 20, 2025

First-trimester ultrasound diagnosis of sirenomelia: A case report.

First-trimester ultrasound diagnosis of sirenomelia: A case report.

Journal: Case reports in women's health

Published: April 12, 2025

In Silico Prediction of BRCA1 and BRCA2 Variants with Conflicting Clinical Interpretation in a Cohort of Breast Cancer Patients.

In Silico Prediction of BRCA1 and BRCA2 Variants with Conflicting Clinical Interpretation in a Cohort of Breast Cancer Patients.

Journal: Genes

Published: June 28, 2024

Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.

Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.

Journal: Journal of assisted reproduction and genetics

Published: September 24, 2022

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 05, 2022

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

Journal: Genes

Published: March 11, 2022

Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.

Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.

Journal: Cancer management and research

Published: November 19, 2021

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: September 17, 2021

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Journal: Clinical genetics

Published: February 10, 2021

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).

Journal: International journal of molecular sciences

Published: December 27, 2020

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).

Journal: Orphanet journal of rare diseases

Published: April 27, 2020

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.

Journal: Clinical genetics

Published: November 07, 2019

Showing 1-12 of 47

Last Updated: 09/26/2026