Fortunato Lonardo - Publications

Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.

Journal: Children (Basel, Switzerland)

Published: September 17, 2025

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Journal: Genes

Published: July 17, 2025

Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU).

Journal: Journal of assisted reproduction and genetics

Published: September 16, 2024

A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.

Journal: Genes

Published: June 10, 2023

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.

Journal: International journal of molecular sciences

Published: April 27, 2023

Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: April 26, 2023

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Journal: European journal of human genetics : EJHG

Published: December 21, 2022

Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.

Journal: Journal of assisted reproduction and genetics

Published: September 24, 2022

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 12, 2022

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Journal: European journal of human genetics : EJHG

Published: April 08, 2022

Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.

Journal: Birth defects research

Published: April 06, 2022

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

Journal: Children (Basel, Switzerland)

Published: April 20, 2021