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Chunjing Qu

Baylor University

10

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396

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Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis

2019
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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

2019 Genome Medicine
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900: A pilot validation study for cell-based noninvasive prenatal testing (NIPT) in 42 cases

2019 American Journal of Obstetrics and Gynecology
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Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis

2019 American Journal of Human Genetics
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Reliable detection of subchromosomal deletions and duplications using cell‐based noninvasive prenatal testing

2018 Prenatal Diagnosis
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

2017 Nature Genetics
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Clinical and molecular characterization of de novo loss of function variants in HNRNPU

2017 American Journal of Medical Genetics Part A
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

2017 JAMA Pediatrics
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