Yaqiong Ren

Suzhou, China

Last Updated: 09/26/2026

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Found 14 publications

Cascade screening and genetic variant pathogenicity assessment for familial hypercholesterolemia in a township‑based elderly population.

Cascade screening and genetic variant pathogenicity assessment for familial hypercholesterolemia in a township‑based elderly population.

Journal: Lipids in health and disease
Published: February 02, 2026

Immune-metabolic mediation of depression risk: Causal evidence from antibody and metabolite GWAS.

Immune-metabolic mediation of depression risk: Causal evidence from antibody and metabolite GWAS.

Journal: Translational psychiatry
Published: September 11, 2025

Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study.

Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study.

Journal: European journal of neurology
Published: August 15, 2025

KRT6A Variant Underlies Pachyonychia Congenita: Insights Into Protein Aggregation and PPAR Signaling.

KRT6A Variant Underlies Pachyonychia Congenita: Insights Into Protein Aggregation and PPAR Signaling.

Journal: American journal of medical genetics. Part A
Published: July 22, 2025

Slc20a2 Deficiency Increases Susceptibility to CNS Demyelination Possibly Through Th17 Cells.

Slc20a2 Deficiency Increases Susceptibility to CNS Demyelination Possibly Through Th17 Cells.

Journal: Journal of neuroscience research
Published: June 26, 2025

A multi-omics and mediation-based genetic screening approach identifies STX4 as a key link between epigenetic regulation, immune cells, and childhood asthma.

A multi-omics and mediation-based genetic screening approach identifies STX4 as a key link between epigenetic regulation, immune cells, and childhood asthma.

Journal: Clinical epigenetics
Published: March 04, 2025

Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.

Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.

Journal: BMC neurology
Published: February 26, 2025

Identification of a novel missense variant in the LMX1B gene associated with nail-patella syndrome in a Chinese family.

Identification of a novel missense variant in the LMX1B gene associated with nail-patella syndrome in a Chinese family.

Journal: Frontiers in genetics
Published: February 17, 2025

Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants.

Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants.

Journal: Clinical genetics
Published: November 19, 2024

A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family.

A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family.

Journal: Frontiers in genetics
Published: January 31, 2024

Assessment of serum vitamin D levels in children aged 0-17 years old in a Chinese population: a comprehensive study.

Assessment of serum vitamin D levels in children aged 0-17 years old in a Chinese population: a comprehensive study.

Journal: Scientific reports
Published: January 16, 2024

Clinical and genetic findings in patients with congenital cataract and heart diseases.

Clinical and genetic findings in patients with congenital cataract and heart diseases.

Journal: Orphanet journal of rare diseases
Published: January 15, 2021
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Last Updated: 09/26/2026