Skip to content

Author

T. Roscioli

We have 3 of 19 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Open access Sep 2026

The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 Pregnancies.

OBJECTIVE Prenatal exome sequencing (pES) is increasingly to standard care for diagnosing the etiology of fetal structural anomalies (FSA). We evaluated trio pES outcomes in the national multicentre, prospectively recruited Australian Government-funded cohort, including diagnostic yield, frequency of variants of uncert...

C. Rowntree, Gemma Fernihough, Sarah Long et al. · 0 citations
#artificial intelligence Preprint Sep 2026

Large Language Model Agents for Evidence Based Genetic Disease Severity Classification

An autonomous AI agent integrating Reasoning and Acting with Retrieval-Augmented Generation with Retrieval-Augmented Generation is developed to classify 10,211 Human Phenotype Ontology terms, enabling standardized panel design by providing reliable, automated classification supported by direct evidence.

Tohid Ghasemnejad, A. Argha, M. Grosser et al. · 0 citations
Open access Jul 2026

Genetic testing in paediatric neurological disorders.

Exome sequencing outperforms gene panels in confirming genetic diagnoses in paediatric neurological disorders, and highlights the need for building local diagnostic genetic-testing resources.

Wafa Bani Uraba, Byoung Chan Lee, S. Mohammad et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.