Fortunato Lonardo

8PUBLICATIONS
22CO-AUTHORS
Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Gene mappingNeurogenetics
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Publications (8)

|Nov 27, 2025
Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.

Fortunato Lonardo, Mariateresa Falco, Claudia Costabile

|Sep 27, 2025
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Paolo Fontana, Claudia Costabile, Mariateresa Falco

|Jan 27, 2025
Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU).

Francesca Romana Grati, Antonio Capalbo, Ilaria Gabbiato

|Aug 12, 2023
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.

Flaviana Marzano, Matteo Chiara, Arianna Consiglio

|Jul 29, 2023
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.

Paolo Fontana, Alberto Budillon, Domenico Simeone

|Jul 02, 2021
Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report.

Giovanna Tritto, Ivana Ricca, Marco Turi

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