Daniele Guadagnolo

Sapienza University of Rome — Italy

Medicine · Health Sciences

8h-index222citations32works0.82yr avg
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Research Topics

Prenatal Screening and Diagnostics(9), Genomics and Rare Diseases(6), Congenital heart defects research(6), Genomic variations and chromosomal abnormalities(5), Fetal and Pediatric Neurological Disorders(5)

Publications32 total

Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa
International Journal of Molecular Sciences·2025Open Access
Variable Intrafamilial Cardiac Phenotype Segregating With a <scp> <i>TBX20</i> </scp> Missense Variant in the Putative Transcriptional Activation Domain
American Journal of Medical Genetics Part A·2025
BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G&gt;C, p. (Arg2336Pro) BRCA2 Variant
Cancers·2025Open Access
Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene
Molecular Biology Reports·2025Open Access
Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding—A Comprehensive Review
Diagnostics·2025· 2 citedOpen Access
Cardiac Involvement and <scp><i>TBCK</i></scp>‐Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
American Journal of Medical Genetics Part A·2025
Beyond the BRCA1/2 genes in ovarian cancer: the clinical and prognostic role of germline pathogenic variants in the ATM gene
2025Open Access
The dilemma of X-linked agammaglobulinemia carriers
Journal of Allergy and Clinical Immunology Global·2024Open Access
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·2024· 5 citedOpen Access
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region
Genes·2023Open Access
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility
Biomedicines·2023· 5 citedOpen Access
Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters
Frontiers in Immunology·2023· 10 citedOpen Access
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2
Journal of Obstetrics and Gynaecology Canada·2023· 1 cited
Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
Frontiers in Immunology·2023· 2 citedOpen Access
Diagnostic yield of prenatal Exome Sequencing in fetal Central Nervous System Anomalies: systematic review and meta-analysis
2023Open Access
Prenatal <i>CFAP53</i> -related laterality defect: case report and review of the literature
The Journal of Maternal-Fetal & Neonatal Medicine·2023· 2 citedOpen Access
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
European Journal of Human Genetics·2023· 10 citedOpen Access
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells
American Journal of Medical Genetics Part A·2023· 5 cited
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
2022Open Access
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
Diagnostics·2022· 18 citedOpen Access
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Frequent Co-authors

Antonio Pizzuti(28), Gioia Mastromoro(21), Enrica Marchionni(14), Laura Bernardini(9), Antonio Novelli(8), Maria Piane(7), Nader Khaleghi Hashemian(7), Bárbara Torres(6), Simona Petrucci(5), Flavia Ventriglia(5), Alice Traversa(4), Aldo Giancotti(4), Alessandro De Luca(4), Federica Pulvirenti(4), Isabella Quinti(4), Laura De Marchis(4), Francesca Di Palma(3), Gerardo Piacentini(3), Tommaso Mazza(3), Viviana Caputo(3)