Giorgia Mandrile

9PUBLICATIONS
62CO-AUTHORS
NeurogeneticsHaematologyGene and molecular therapyNeurology and neuromuscular diseasesContaminant hydrology
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Publications (9)

|Jul 08, 2026
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

|Dec 08, 2025
Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern Italy.

Vincenzo Voi, Noemi Giordano, Veronica Sciannameo

|Feb 13, 2024
Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney

|Mar 06, 2023
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

Chiara Giovenino, Slavica Trajkova, Lisa Pavinato

|Jan 05, 2023
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.

Jaap W Groothoff, Ella Metry, Lisa Deesker

|Sep 23, 2022
First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE).

Giorgia Mandrile, Susanna Barella, Antonino Giambona

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Frequent Collaborators

4 joint publications

Alfredo Brusco

3 joint publications

Marco Tartaglia

3 joint publications

Verdiana Pullano

3 joint publications

Lisa Pavinato