Yan-yan Cao

Research progress on phenotypic modifier genes in spinal muscular atrophy

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: February 18, 2025

Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician's perspective.

Journal: Journal of human genetics

Published: January 22, 2025

Clinical, genetic, and pathological analysis in 165 children with disorders of sex development

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: November 22, 2023

A Novel WDR45 Mutation in a 9-Month-Old Male Infant with Epileptic Spasms.

Journal: Chinese medical journal

Published: December 13, 2018

Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing.

Journal: Chinese medical journal

Published: December 13, 2018

p.Val19Glyfs21 and p.Leu228 variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation.

Journal: Mutation research

Published: June 23, 2017

Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child.

Journal: Chinese medical journal

Published: March 18, 2017

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.

Journal: The Journal of molecular diagnostics : JMD

Published: February 06, 2016

Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy.

Journal: Journal of Zhejiang University. Science. B

Published: January 08, 2016

A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.

Journal: Journal of Zhejiang University. Science. B

Published: November 06, 2015

A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.

Journal: European journal of human genetics : EJHG

Published: March 16, 2015

Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.

Journal: Molecular genetics and metabolism

Published: August 19, 2014

Research progress on phenotypic modifier genes in spinal muscular atrophy

Research progress on phenotypic modifier genes in spinal muscular atrophy

Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician's perspective.

Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician's perspective.

Clinical, genetic, and pathological analysis in 165 children with disorders of sex development

Clinical, genetic, and pathological analysis in 165 children with disorders of sex development

A Novel WDR45 Mutation in a 9-Month-Old Male Infant with Epileptic Spasms.

A Novel WDR45 Mutation in a 9-Month-Old Male Infant with Epileptic Spasms.

Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing.

Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing.

p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation.

p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation.

Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child.

Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child.

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.

Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy.

Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy.

A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.

A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.

A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.

A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.

Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.

Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.

p.Val19Glyfs21 and p.Leu228 variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation.

p.Val19Glyfs21 and p.Leu228 variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation.