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Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01493-z
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- Article
Prenatal Diagnosis and Genetic Analysis of 21q21.1–q21.2 Aberrations in Seven Chinese Pedigrees.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.731815
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- Article
An assessment of the analytical performance of non‐invasive prenatal testing (NIPT) in detecting sex chromosome aneuploidies: 34,717‐patient sample in a single prenatal diagnosis Centre in China.
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- Journal of Gene Medicine, 2021, v. 23, n. 9, p. 1, doi. 10.1002/jgm.3362
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- Article
Detection of fetal trisomy and single gene disease by massively parallel sequencing of extracellular vesicle DNA in maternal plasma: a proof-of-concept validation.
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- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0590-8
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- Article
Genome-wide detection of additional fetal chromosomal abnormalities by cell-free DNA testing of 15,626 consecutive pregnant women.
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- SCIENCE CHINA Life Sciences, 2019, v. 62, n. 2, p. 215, doi. 10.1007/s11427-017-9344-7
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- Article
Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0286-2
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- Article
A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing.
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- Human Mutation, 2014, v. 35, n. 5, p. 625, doi. 10.1002/humu.22541
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- Article
CpG island methylation status of miRNAs in esophageal squamous cell carcinoma.
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- International Journal of Cancer, 2012, v. 130, n. 7, p. 1607, doi. 10.1002/ijc.26171
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- Article
A functional varient in microRNA-146a is associated with risk of esophageal squamous cell carcinoma in Chinese Han.
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- Familial Cancer, 2010, v. 9, n. 4, p. 599, doi. 10.1007/s10689-010-9370-5
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- Article