Yiming Wang

Guangzhou, 510080, China

Last Updated: 09/26/2026

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Found 9 publications

A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report.

A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report.

Journal: Molecular biology reports
Published: April 03, 2019

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.

Journal: Oncotarget
Published: June 25, 2016

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.

Journal: The Journal of pediatrics
Published: January 02, 2016

A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient.

A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient.

Journal: Acta ophthalmologica
Published: November 09, 2015

Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas.

Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas.

Journal: Human mutation
Published: March 25, 2015

Novel genes and variants associated with IgA nephropathy by co-segregating with the disease phenotypes in 10 IgAN families.

Novel genes and variants associated with IgA nephropathy by co-segregating with the disease phenotypes in 10 IgAN families.

Journal: Gene
Published: March 17, 2015

Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.

Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.

Journal: Human genetics
Published: January 12, 2015

Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient.

Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient.

Journal: Imaging science in dentistry
Published: January 12, 2015

Concurrent nucleotide substitution mutations in the human genome are characterized by a significantly decreased transition/transversion ratio.

Concurrent nucleotide substitution mutations in the human genome are characterized by a significantly decreased transition/transversion ratio.

Journal: Human mutation
Published: August 05, 2014
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Last Updated: 09/26/2026