Orsetta Zuffardi - Publications

Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case.

Journal: European journal of human genetics : EJHG

Published: March 11, 2025

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Journal: American journal of medical genetics. Part A

Published: December 20, 2024

AUTS2-related syndrome: Insights from a large European cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 28, 2024

Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: March 22, 2024

Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.

Journal: Frontiers in genetics

Published: June 23, 2023

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.

Journal: Frontiers in genetics

Published: May 30, 2023

Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.

Journal: Nature communications

Published: May 18, 2023

Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.

Journal: Genes

Published: February 03, 2023

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

Journal: American journal of human genetics

Published: January 09, 2023

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Journal: Journal of medical genetics

Published: January 03, 2023

SCN2A and arrhythmia: A potential correlation? A case report and literature review.

Journal: European journal of medical genetics

Published: July 16, 2022

Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.

Journal: Journal of clinical medicine

Published: June 28, 2022