Sara Loddo

14PUBLICATIONS
46CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene mappingDevelopmental genetics (incl. sex determination)NeurogeneticsCardiology (incl. cardiovascular diseases)
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Publications (14)

|Nov 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Alessandro De Falco, Marie Vincent, Gaëlle Vieville

|Mar 21, 2024
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

Souad Bensaid, Malika Bendahmane, Sara Loddo

|Jan 23, 2024
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.

Cristina Politi, Katia Grillone, Donatella Nocera

|May 27, 2023
Deep Intronic LINE-1 Insertions in <i>NF1</i>: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.

Viola Alesi, Silvia Genovese, Francesca Romana Lepri

|Nov 11, 2022
A Complex Genomic Rearrangement Resulting in Loss of Function of <i>SCN1A</i> and <i>SCN2A</i> in a Patient with Severe Developmental and Epileptic Encephalopathy.

Valeria Orlando, Silvia Di Tommaso, Viola Alesi

|Oct 26, 2022
Cardiovascular Involvement in Pediatric <i>FLNC</i> Variants: A Case Series of Fourteen Patients.

Anwar Baban, Viola Alesi, Monia Magliozzi

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Frequent Collaborators

7 joint publications

Maria Lisa Dentici

6 joint publications

Viola Alesi

6 joint publications

Antonio Novelli

5 joint publications

Silvia Genovesea