D. Guadagnolo

Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical reassessment.

A. Pizzuti, M. Baldi, F. Ventriglia, 2020, European journal of obstetrics, gynecology, and reproductive biology.

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

A. Pizzuti, G. Mastromoro, A. Traversa, 2022, Diagnostics.

Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review

A. Pizzuti, G. Mastromoro, Daniele Guadagnolo, 2021, Diagnostics.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

N. Brunetti‐Pierri, T. Mazza, M. Digilio, 2023, European Journal of Human Genetics.

Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells

A. Pizzuti, L. Bernardini, I. Torrente, 2023, American journal of medical genetics. Part A.

Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings

A. Pizzuti, M. Torrisi, M. Piane, 2021, Frontiers in Neurology.

Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis

A. Pizzuti, L. Bernardini, G. Piacentini, 2022, Diagnostics.

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 Series

A. Pizzuti, L. Bernardini, A. Giancotti, 2022, Diagnostics.

Heterozygous Pathogenic Nonsense ATM Variant Resulting in Unusually High Gastric Cancer Susceptibility

A. Pizzuti, G. Mastromoro, M. Piane, 2021 .

The response to BTN62b2 booster doses demonstrates that serum antibodies do not predict the establishment of immune B-cell memory in common variable immune deficiencies

C. Agrati, S. Zaffina, F. Locatelli, 2022, medRxiv.

GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.

T. Mazza, V. Caputo, A. Pizzuti, 2020, Bone.

Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

A. Pizzuti, V. Salvati, G. Mastromoro, 2022, Diagnostics.

Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters

C. Agrati, C. Castilletti, V. Bordoni, 2023, Frontiers in Immunology.

Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2‐opathy

A. Pizzuti, E. Agolini, A. Novelli, 2021, American journal of medical genetics. Part A.

RECURRENT PRENATAL PIEZO1-RELATED LYMPHATIC DYSPLASIA: EXPANDING MOLECULAR AND ULTRASOUND FINDINGS.

M. D. Di Gregorio, A. Pizzuti, A. Novelli, 2020, European journal of medical genetics.

Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?

A. Zicari, F. De Benedetti, I. Quinti, 2023, Frontiers in Immunology.

Prenatal CFAP53-related laterality defect: case report and review of the literature

A. Pizzuti, L. Bernardini, A. Novelli, 2023, 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.