Enrica Marchionni

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 23

Top Topics

Dna Methylation

Congenital Heart Disease

Systematic Review

Hypertrophic Cardiomyopathy

Top Venues

European journal of human genetics : EJHG

American journal of medical genetics. Part A

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Enrica Marchionni, Daniele Guadagnolo, Gioia Mastromoro, Antonio Pizzuti
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis. European journal of human genetics : EJHG (2024)
Enrica Marchionni, Daniele Guadagnolo, Gioia Mastromoro, Antonio Pizzuti
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis. European journal of human genetics : EJHG 32 (7) (2024)
Enrica Marchionni, Daniele Guadagnolo, Gioia Mastromoro, Antonio Pizzuti
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis. European journal of human genetics : EJHG 32 (7) (2024)
Enrica Marchionni, Daniele Guadagnolo, Gioia Mastromoro, Antonio Pizzuti
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis. European journal of human genetics : EJHG (2024)
Enrica Marchionni, Daniele Guadagnolo, Gioia Mastromoro, Antonio Pizzuti
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis. European journal of human genetics : EJHG 32 (7) (2024)
Enrica Marchionni, Daniele Guadagnolo, Gioia Mastromoro, Antonio Pizzuti
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis. European journal of human genetics : EJHG 32 (7) (2024)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A 191 (4) (2023)
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 Carla Sangiuolo
DSP -Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. International journal of molecular sciences 24 (3) (2023)
Anna Heinzmann, Sabrina Sayah, François-Xavier Lejeune, Valérie Hahn, Marc Teichmann, Marie-Lorraine Monin, Enrica Marchionni, Fleur Gérard, Perrine Charles, Jérémie Pariente, Alexandra Dürr
Huntington's Disease with Small CAG Repeat Expansions. Movement disorders : official journal of the Movement Disorder Society (2023)
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 Carla Sangiuolo
DSP -Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. International journal of molecular sciences 24 (3) (2023)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Daniele Guadagnolo, Gioia Mastromoro, Enrica Marchionni, Aldo Germani, Fabio Libi, Soha Sadeghi, Camilla Savio, Simona Petrucci, De Marchis Laura, Maria Piane, Antonio Pizzuti
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility. Biomedicines 11 (7) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A 191 (4) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A 191 (4) (2023)
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 Carla Sangiuolo
DSP -Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. International journal of molecular sciences 24 (3) (2023)
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 Carla Sangiuolo
DSP -Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. International journal of molecular sciences 24 (3) (2023)
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region. Genes 14 (12) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A (2023)
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Enrica Marchionni, Alice Traversa, Antonio Pizzuti
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis. Diagnostics (Basel, Switzerland) 12 (3) (2022)
Daniele Guadagnolo, Gioia Mastromoro, Francesca Di Palma, Antonio Pizzuti, Enrica Marchionni
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review. Diagnostics (Basel, Switzerland) 11 (2) (2021)
Enrica Marchionni, Emanuele Agolini, Gioia Mastromoro, Daniele Guadagnolo, Giulia Coppola, Mario Roggini, Mara Riminucci, Antonio Novelli, Antonella Giancotti, Alessandro Corsi, Antonio Pizzuti
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy. American journal of medical genetics. Part A 185 (5) (2021)