Anna M. Nardone - Publications

Modelling severe COVID-19 in TLR3-mutated hiPSCs-derived lung organoids.

Journal: Cell death discovery

Published: September 12, 2025

A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies.

Journal: Neurogenetics

Published: August 01, 2025

Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.

Journal: Molecular cytogenetics

Published: July 12, 2025

Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability.

Journal: Orphanet journal of rare diseases

Published: February 14, 2025

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.

Journal: Genome medicine

Published: May 16, 2024

Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.

Journal: 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

Published: April 28, 2024

Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.

Journal: Bone reports

Published: November 23, 2023

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.

Journal: Cell death & disease

Published: September 15, 2022

Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).

Journal: Prenatal diagnosis

Published: August 05, 2022

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.

Journal: Genome research

Published: September 12, 2021

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Journal: American journal of medical genetics. Part A

Published: September 27, 2020

Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.

Journal: Reproductive sciences (Thousand Oaks, Calif.)

Published: August 19, 2020