Mingtao Huang
Nanjing, 210004, China
Last Updated: 09/26/2026
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Found 17 publications
Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.
Journal: Human genomics
Published: December 25, 2025
Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings.
Journal: Archives of gynecology and obstetrics
Published: November 20, 2025
From iPSCs to myotubes: Identifying potential biomarkers for human FSHD by single-cell transcriptomics.
Journal: Clinical and translational medicine
Published: April 07, 2025
Accurate detection of D4Z4 repeats, methylation and allele haplotype in facioscapulohumeral muscular dystrophy 1 using nanopore long-read adaptive sampling sequencing: a pilot study.
Journal: Journal of medical genetics
Published: March 31, 2025
Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.
Journal: BMC pediatrics
Published: August 23, 2024
Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing.
Journal: Journal of translational medicine
Published: December 10, 2023
A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application.
Journal: Journal of translational medicine
Published: November 22, 2023
Residual risk of clinically significant copy number variations in fetuses with nasal bone absence or hypoplasia after excluding non-invasive prenatal screening-detectable findings.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: October 17, 2023
Reproductive outcomes in couples with recurrent pregnancy loss after embryonic chromosomal microarray analysis.
Journal: Journal of assisted reproduction and genetics
Published: August 03, 2023
Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis.
Journal: Acta obstetricia et gynecologica Scandinavica
Published: March 28, 2023
Last Updated: 09/26/2026