Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review by Daniele Guadagnolo, Gioia Mastromoro, Francesca Di Palma, Antonio Pizzuti, Enrica Marchionni

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Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis by Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Enrica Marchionni, Alice Traversa, Antonio Pizzuti

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X-linked dominant RPGR gene mutation in a familial Coats angiomatosis by Marcella Nebbioso, Federica Franzone, Alessandro Lambiase, Maurizio La Cava, Fabiana Mallone, Antonio Pizzuti, Enrica Marchionni

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<i>TLR4</i> T399I Polymorphism and Endometriosis in a Cohort of Italian Women by Enrica Marchionni, Maria Grazia Porpora, Francesca Megiorni, Ilaria Piacenti, Agnese Giovannetti, Cinzia Marchese, Pierluigi Benedetti Panici, Antonio Pizzuti

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KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins by Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, Fanny Mochel

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Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region by Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti

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Heterozygous Pathogenic Nonsense Variant in the <i>ATM</i> Gene in a Family with Unusually High Gastric Cancer Susceptibility by Daniele Guadagnolo, Gioia Mastromoro, Enrica Marchionni, Aldo Germani, Fabio Libi, Soha Sadeghi, Camilla Savio, Simona Petrucci, Laura De Marchis, Maria Piane, Antonio Pizzuti

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Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation by Alice Traversa, Silvia Bernardo, Alessandro Paiardini, Agnese Giovannetti, Enrica Marchionni, Maria Luce Genovesi, Daniele Guadagnolo, Barbara Torres, Stefano Paolacci, Laura Bernardini, Tommaso Mazza, Massimo Carella, Viviana Caputo, Antonio Pizzuti

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<i>DSP</i>-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort by Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Annamaria Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calò, Giuseppe Novelli, Ruggiero Mango, Federica Sangiuolo

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Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance by Alice Traversa, Enrica Marchionni, Agnese Giovannetti, Maria L. Genovesi, Noemi Panzironi, Katia Margiotti, Giulia Napoli, Francesca Piceci Sparascio, Alessandro De Luca, Francesco Petrizzelli, Massimo Carella, Francesco Cardona, Silvia Bernardo, Lucia Manganaro, Tommaso Mazza, Antonio Pizzuti, Viviana Caputo

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Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype by Enrica Marchionni, Maria Rosaria D'Apice, Viviana Lupo, Giovanna Lattanzi, Elisabetta Mattioli, Gina Lisignoli, Elena Gabusi, Gerardo Pepe, Manuela Helmer Citterich, Elena Campione, Anna Maria Nardone, Paola Spitalieri, Noemi Pucci, Dario Cocciadiferro, Eliseo Picchi, Francesco Garaci, Antonio Novelli, Giuseppe Novelli

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