Jiyun Yang

No. 32, The Western First Round Road
Chengdu, 610072, China

Last Updated: 09/26/2026

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Found 54 publications

Longitudinal clinical impact of dynamic variant re-classification on reproductive decision-making: a 3-year case study.

Longitudinal clinical impact of dynamic variant re-classification on reproductive decision-making: a 3-year case study.

Journal: Journal of assisted reproduction and genetics

Published: June 13, 2026

Resolving variants of uncertain significance in neurofibromatosis: An integrated approach combining deep learning and minigene assays.

Resolving variants of uncertain significance in neurofibromatosis: An integrated approach combining deep learning and minigene assays.

Journal: Functional & integrative genomics

Published: March 22, 2026

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia.

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia.

Journal: Molecular genetics & genomic medicine

Published: December 27, 2025

Novel compound heterozygous mutations in KLHL24-induced recessive inherited hypertrophic cardiomyopathy: a case report.

Novel compound heterozygous mutations in KLHL24-induced recessive inherited hypertrophic cardiomyopathy: a case report.

Journal: Frontiers in cardiovascular medicine

Published: December 19, 2025

Case Report: A case of Joubert syndrome in twin pregnancy: MRI manifestations and literature review.

Case Report: A case of Joubert syndrome in twin pregnancy: MRI manifestations and literature review.

Journal: Frontiers in pediatrics

Published: December 14, 2025

Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome Sequencing.

Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome Sequencing.

Journal: Clinical genetics

Published: July 02, 2025

A Novel DSPP Mutation in Dentinogenesis Imperfecta Shields Type II: Clinical, Genetic and Stem Cell Perspectives.

A Novel DSPP Mutation in Dentinogenesis Imperfecta Shields Type II: Clinical, Genetic and Stem Cell Perspectives.

Journal: International dental journal

Published: April 29, 2025

Pancreatic liposarcoma: A case report.

Pancreatic liposarcoma: A case report.

Journal: Oncology letters

Published: August 16, 2024

Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree.

Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree.

Journal: Human mutation

Published: July 06, 2024

Rosiglitazone as a potential therapeutic drug in early intervention of preeclampsia.

Rosiglitazone as a potential therapeutic drug in early intervention of preeclampsia.

Journal: Pregnancy hypertension

Published: June 24, 2024

Construction of molecular subtype and prognostic model for gastric cancer based on nucleus-encoded mitochondrial genes.

Construction of molecular subtype and prognostic model for gastric cancer based on nucleus-encoded mitochondrial genes.

Journal: Scientific reports

Published: March 22, 2024

Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings.

Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings.

Journal: Frontiers in neurology

Published: March 01, 2024

Showing 1-12 of 54

Last Updated: 09/26/2026