Elisa Giorgio

8PUBLICATIONS
60CO-AUTHORS
NeurogeneticsDevelopmental genetics (incl. sex determination)Gene mappingMolecular targetsGene expression (incl. microarray and other genome-wide approaches)
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Publications (8)

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

|Sep 11, 2025
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy.

Radhika Dhamija, W Oliver Tobin, Pietro Cortelli

|Jul 30, 2024
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.

Paola Dimartino, Mariia Zadorozhna, Verónica Yumiceba

|Mar 28, 2023
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.

Maria Francesca Di Feo, Victoria Lillback, Manu Jokela

|Mar 06, 2021
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.

Lisa Pavinato, Slavica Trajkova, Enrico Grosso

|Dec 16, 2020
Functional and clinical implications of genetic structure in 1686 Italian exomes.

Giovanni Birolo, Serena Aneli, Cornelia Di Gaetano

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Frequent Collaborators

6 joint publications

Alfredo Brusco

3 joint publications

Lisa Pavinato

3 joint publications

Alessandro Bruselles

2 joint publications

Diana Carli