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Jiazhen Chang

Central South University

7

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70

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Simultaneous detection of copy number and single nucleotide variations improves diagnostic yield of fetuses with ultrasound anomalies and normal karyotypes

2021 Molecular Genetics and Metabolism
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Noninvasive Prenatal Testing for Fetal XXY Aneuploidies Among Pregnancies in Beijing of China

2020
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[Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome].

2019 Chinese journal of medical genetics
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Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets

2015 Gene
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Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.

2015 Molecular Cytogenetics
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Noninvasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART)

2015 Clinical Chemistry
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Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.

2015 Gene
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