Beatrice Oneda
Schlieren, ZH, Switzerland
Last Updated: 09/26/2026
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Found 28 publications
Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.
Journal: The Journal of clinical investigation
Published: June 09, 2025
CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines.
Journal: Stem cell research
Published: February 19, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
Journal: European journal of human genetics : EJHG
Published: July 11, 2024
Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.
Journal: Human molecular genetics
Published: November 14, 2022
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
Journal: Molecular genetics & genomic medicine
Published: August 26, 2022
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.
Journal: European journal of medical genetics
Published: July 08, 2022
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Journal: European journal of human genetics : EJHG
Published: June 29, 2022
A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers.
Journal: European journal of medical genetics
Published: April 28, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Journal: NPJ genomic medicine
Published: February 21, 2022
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).
Journal: Molecular genetics & genomic medicine
Published: February 03, 2020
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.
Journal: European journal of obstetrics, gynecology, and reproductive biology
Published: December 17, 2019
High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability.
Journal: Journal of neural transmission (Vienna, Austria : 1996)
Published: August 05, 2019
Last Updated: 09/26/2026