Publications by authors named "Antonina Rinninella"

Article Synopsis
  • The study investigates the use of genomic DNA methylation analysis, or episignature profiling, in diagnosing neurodevelopmental disorders (NDDs) by evaluating two cohorts of patients: one with known pathogenic variants and another with uncertain mutations.
  • In the validation group of 59 patients, 90% exhibited expected episignatures, although some variants displayed overlapping profiles due to similar clinical symptoms.
  • In the test cohort of 38 patients, five cases identified novel pathogenic variants and confirmed diagnoses for conditions such as Cornelia de Lange syndrome, highlighting the potential of episignature analysis to tackle complex genetic diagnosis challenges.
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Despite major advances in genome technology and analysis, >50% of patients with a neurodevelopmental disorder (NDD) remain undiagnosed after extensive evaluation. A point in case is our clinically heterogeneous cohort of NDD patients that remained undiagnosed after FRAXA testing, chromosomal microarray analysis and trio exome sequencing (ES). In this study, we explored the frequency of non-random X chromosome inactivation (XCI) in the mothers of male patients and affected females, the rationale being that skewed XCI might be masking previously discarded genetic variants found on the X chromosome.

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Background: The aim of this study is to identify miRNAs able to predict the outcomes in breast cancer patients after neoadjuvant chemotherapy (NAC).

Patients And Methods: We retrospectively analyzed 24 patients receiving NAC and not reaching pathologic complete response (pCR). miRNAs were analyzed using an Illumina Next-Generation-Sequencing (NGS) system.

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