Daniele Guadagnolo | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
The dilemma of X-linked agammaglobulinemia carriers	JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. GLOBAL	2025
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
First-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related spinal muscular atrophy withith congenital bone fractures	EUROPEAN JOURNAL OF HUMAN GENETICS	2024
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2023
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
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome	EUROPEAN JOURNAL OF HUMAN GENETICS	2023
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
Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters	FRONTIERS IN IMMUNOLOGY	2023
Prenatal CFAP53-related laterality defect: case report and review of the literature	THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE	2023
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility	BIOMEDICINES	2023
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
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region	GENES	2023
Prenatal CFAP53-related laterality defect: case report and review of the literature	THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE	2023
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis	DIAGNOSTICS	2022
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer	DIAGNOSTICS	2022
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
Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene	EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY	2022
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis	DIAGNOSTICS	2022
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations	BONE	2021
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2021