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European Journal of Human Genetics : EJHG|March 15, 2024
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysisEnrica Marchionni, Daniele Guadagnolo, Gioia Mastromoro, et al.
Diagnostics (Basel, Switzerland)|February 5, 2021
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic ReviewDaniele Guadagnolo, Gioia Mastromoro, Francesca Di Palma, et al.
Frontiers in Neurology|October 11, 2021
Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular FindingsDaniele Guadagnolo, Maria Piane, Maria Rosaria Torrisi, et al.
Diagnostics (Basel, Switzerland)|March 25, 2022
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-AnalysisGioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, et al.
Diagnostics (Basel, Switzerland)|February 26, 2025
Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive ReviewGioia Mastromoro, Daniele Guadagnolo, Alessandro De Luca, et al.
Diagnostics (Basel, Switzerland)|January 8, 2023
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case SeriesGioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, et al.
American Journal of Medical Genetics. Part A|July 28, 2025
Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation DomainGioia Mastromoro, Alice Traversa, Daniele Guadagnolo, et al.
Diagnostics (Basel, Switzerland)|July 27, 2022
Genomic Breakpoints' Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast CancerAldo Germani, Daniele Guadagnolo, Valentina Salvati, et al.
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|April 11, 2023
Prenatal CFAP53-related laterality defect: case report and review of the literatureGioia Mastromoro, Daniele Guadagnolo, Antonio Novelli, et al.
Diagnostics (Basel, Switzerland)|June 24, 2022
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-AnalysisGioia Mastromoro, Nader Khaleghi Hashemian, Daniele Guadagnolo, et al.
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