Gheona Altarescu

Medicine · Health Sciences

33h-index4.9kcitations200works0.52yr avg
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Research Topics

Lysosomal Storage Disorders Research(84), Prenatal Screening and Diagnostics(61), Cellular transport and secretion(22), Trypanosoma species research and implications(20), Genomic variations and chromosomal abnormalities(20)

Publications198 total

Successful treatment of a Fabry patient with pegunigalsidase alfa after developing angioedema and anaphylactic shock on agalsidase alfa alpha and beta
Molecular Genetics and Metabolism·2026
A non-coding signature in SHROOM3 is associated with kidney disease progression in Fabry disease
Molecular Genetics and Metabolism·2026
Rethinking Fabry disease genetic screening when exons are not enough
Molecular Genetics and Metabolism·2026
A non-coding signature in SHROOM3 is associated with kidney disease progression in Fabry disease
Universität Zürich, ZORA·2026Open Access
A non-coding signature in SHROOM3 is associated with kidney disease progression in Fabry disease
Molecular Genetics and Metabolism·2025Open Access
Expert opinion on facilitating intrafamily communication in rare diseases—Lessons from Fabry disease
Genetics in Medicine Open·2025Open Access
Markedly Low Prevalence of Fatty Liver Despite Obesity in Prader–Willi Syndrome: A Search for Protective Genetic Markers
Journal of Clinical and Experimental Hepatology·2025· 1 citedOpen Access
Identification of genetic variants associated with Fabry nephropathy progression using whole-exome sequencing
Universität Zürich, ZORA·2025Open Access
Identification of genetic variants associated with Fabry nephropathy progression using whole-exome sequencing
Molecular Genetics and Metabolism·2025· 2 cited
P-567 Cycle outcomes using Haploseek combining PGT-M and PGT-A compared to PGT-M only in patients tested for monogenic diseases
Human Reproduction·2025Open Access
Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection
Molecular Genetics and Metabolism·2025
Preimplantation Genetic Testing (PGT) to Reduce the Risk for GBA-Related Parkinson’s Disease: Expanding the Applications for Embryo Selection
International Journal of Molecular Sciences·2025Open Access
Promises and pitfalls of preimplantation genetic testing for polygenic disorders: a narrative review
F&S Reviews·2024· 4 cited
Cytosolic PEPCK deficiency caused by a novel homozygous frame-shift variant presenting as resolved hypoglycemia and acute liver failure at birth
Molecular Genetics and Metabolism Reports·2024· 1 citedOpen Access
THE X FILES: PREVALENCE OF X-LINKED GENE VARIANTS IN PATIENTS UNDERGOING PREIMPLANTATION GENETIC TESTING AND THE LIMITATIONS OF CURRENT CARRIER SCREENING PANELS
Fertility and Sterility·2024
Promises and pitfalls of preimplantation genetic testing for polygenic disorders
2024Open Access
A novel RYR1 pathogenic variant − Common among Libyan Jews and associated with a broad phenotypic spectrum
Gene·2024
Aneuploidy in Oocytes From Women of Advanced Maternal Age: Analysis of the Causal Meiotic Errors and Impact on Embryo Development
Obstetrical & Gynecological Survey·2024
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a “virtual fetus” model‐a pilot study
Prenatal Diagnosis·2024· 1 citedOpen Access
Facilitating intrafamily communication to enable earlier diagnosis of Fabry disease in relatives: Expert opinion
Molecular Genetics and Metabolism·2024· 1 cited
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Frequent Co-authors

Raphael Schiffmann(14), Deborah Elstein(13), Ephrat Levy‐Lahad(13), Talia Eldar‐Geva(12), Paul Renbaum(11), Ari Zimran(10), David F. Moore(8), Ehud J. Margalioth(6), Irit Varshaver(4), Roscoe O. Brady(3), Peter Herscovitch(3), Mici Phillips(3), Nicholas J. Patronas(3), Karen Frei(3), Silvina Epsztejn‐Litman(3), Rachel Eiges(3), Sorina Grisaru‐Granovsky(3), B. Brooks(3), Christine R. Kaneski(2), Raymond T. Ferri(2)