Yanjie Z. Fan

1665 Kongjiang Road
Shanghai, 200092, China

Last Updated: 09/26/2026

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Found 51 publications

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Journal: Prenatal diagnosis

Published: March 18, 2026

Technical Considerations for Blood RNA Sequencing in Genetic Testing: Evaluation of Globin Depletion Methods, Batch Effects, and Sample Types.

Technical Considerations for Blood RNA Sequencing in Genetic Testing: Evaluation of Globin Depletion Methods, Batch Effects, and Sample Types.

Journal: Annals of laboratory medicine

Published: July 28, 2025

Low-dose AAV9-SMN1 with CNS-selective expression delivers efficacy and favorable safety in spinal muscular atrophy.

Low-dose AAV9-SMN1 with CNS-selective expression delivers efficacy and favorable safety in spinal muscular atrophy.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: July 19, 2025

An agentic system for rare disease diagnosis with traceable reasoning.

An agentic system for rare disease diagnosis with traceable reasoning.

Journal: Nature

Published: June 30, 2025

CitNOR-like1 is conserved in the regulation of ascorbic acid accumulation in plants.

CitNOR-like1 is conserved in the regulation of ascorbic acid accumulation in plants.

Journal: Plant physiology

Published: April 29, 2025

Quantifying the reasoning abilities of LLMs on clinical cases.

Quantifying the reasoning abilities of LLMs on clinical cases.

Journal: Nature communications

Published: March 24, 2025

Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.

Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.

Journal: Journal of translational medicine

Published: March 14, 2025

Additional Diagnostic Yield through the Analysis of Short Tandem Repeats Based on Exome Sequencing Data.

Additional Diagnostic Yield through the Analysis of Short Tandem Repeats Based on Exome Sequencing Data.

Journal: The Journal of molecular diagnostics : JMD

Published: February 08, 2025

Expert consensus on the standardized application of whole exome sequencing technology in diagnosis of genetic disorders

Expert consensus on the standardized application of whole exome sequencing technology in diagnosis of genetic disorders

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: January 08, 2025

OXA1L deficiency causes mitochondrial myopathy via reactive oxygen species regulated nuclear factor kappa B signalling pathway.

OXA1L deficiency causes mitochondrial myopathy via reactive oxygen species regulated nuclear factor kappa B signalling pathway.

Journal: Clinical and translational medicine

Published: October 19, 2024

Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders.

Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders.

Journal: Genome medicine

Published: March 11, 2024

Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?

Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?

Journal: Clinical chemistry and laboratory medicine

Published: February 22, 2024

Showing 1-12 of 51

Last Updated: 09/26/2026