Feruza Abraamyan

Hospital Medicine
1 Medical Plaza Drive
Roseville, CA 95661

Last Updated: 09/26/2026

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Found 7 publications

De Novo GUCY2C and PRR12 Mutations in a Patient With Chronic Diarrhea, Small Bowel Obstructions, and Developmental Delay.

De Novo GUCY2C and PRR12 Mutations in a Patient With Chronic Diarrhea, Small Bowel Obstructions, and Developmental Delay.

Journal: ACG case reports journal
Published: July 04, 2025

Novel Variant in ANO5 Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.

Novel Variant in ANO5 Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.

Journal: Genes
Published: September 10, 2024

Novel RAI1:c.2736delC Variant in Smith-Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis.

Novel RAI1:c.2736delC Variant in Smith-Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis.

Journal: Journal of personalized medicine
Published: July 23, 2024

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.

Journal: Genes
Published: June 19, 2024

An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.

An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.

Journal: Frontiers in oncology
Published: May 12, 2022

An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants.

An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants.

Journal: MethodsX
Published: March 03, 2022

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.

Journal: Journal of biomedical informatics
Published: October 27, 2021
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Last Updated: 09/26/2026