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Case Reports in Pediatrics|July 4, 2024
Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 VariantsKatia Margiotti, Francesco Libotte, Marco Fabiani, et al.International Medical Case Reports Journal|February 25, 2026
Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case ReportFrancesco Libotte, Katia Margiotti, Marco Fabiani, et al.Genes|October 23, 2021
Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q MicroduplicationFrancesco Libotte, Marco Fabiani, Katia Margiotti, et al.Current Issues in Molecular Biology|April 26, 2024
Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center ExperienceKatia Margiotti, Marco Fabiani, Antonella Cima, et al.Fetal and Pediatric Pathology|December 11, 2024
A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal DiagnosisMarco Fabiani, Katia Margiotti, Francesco Libotte, et al.Experimental and Therapeutic Medicine|February 10, 2023
De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case reportFrancesco Libotte, Marco Fabiani, Katia Margiotti, et al.Journal of Medicine and Life|January 18, 2021
Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound ExaminationsFrancesco Libotte, Sonia Lorena Carpineto, Claudio Dello Russo, et al.Neurogenetics|August 15, 2025
Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndromeKatia Margiotti, Marco Fabiani, Costanza Zangheri, et al.Genes|December 23, 2022
Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 GeneMarco Fabiani, Francesco Libotte, Katia Margiotti, et al.Taiwanese Journal of Obstetrics & Gynecology|January 2, 2017
Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosisFrancesco Libotte, Domenico Bizzoco, Ivan Gabrielli, et al.Pageof 2