Showing 1 - 7 results of 7 for search '"pathogenic copy number variants"', query time: 1.16s Refine Results
  1. 1
    Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages

    Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages by Autumn DiAdamo, Hongyan Chai, Mei Ling Chong, Guilin Wang, Jiadi Wen, Yong-Hui Jiang, Peining Li

    Published 2024-01-01
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  2. 2
    A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings

    A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings by Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Fang Xu, Qinghua Zhou, Jiadi Wen, Maurice Mahoney, Allen Bale, James McGrath, Michele Spencer-Manzon, Peining Li, Hui Zhang

    Published 2019-11-01
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  3. 3
    Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses

    Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses by Gang Peng, Qinghua Zhou, Hongyan Chai, Jiadi Wen, Hongyu Zhao, Hugh S. Taylor, Yong‐Hui Jiang, Peining Li

    Published 2023-08-01
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  4. 4
    Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans

    Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans by Lin Chen, Li Wang, Yang Zeng, Daishu Yin, Feng Tang, Dan Xie, Hongmei Zhu, Hongqian Liu, Jing Wang

    Published 2023-08-01
    Subjects: “…Pathogenic/likely pathogenic copy number variants (P/LP CNVs)…”
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  5. 5
    Inversion polymorphism in a complete human genome assembly

    Inversion polymorphism in a complete human genome assembly by David Porubsky, William T. Harvey, Allison N. Rozanski, Jana Ebler, Wolfram Höps, Hufsah Ashraf, Patrick Hasenfeld, Human Pangenome Reference Consortium (HPRC), Human Genome Structural Variation Consortium (HGSVC), Benedict Paten, Ashley D. Sanders, Tobias Marschall, Jan O. Korbel, Evan E. Eichler

    Published 2023-04-01
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  6. 6
    Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities

    Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities by Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Jennifer Boyle, Katherine Amato, Dongmei Wang, Jiadi Wen, Peining Li

    Published 2019-01-01
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  7. 7
    Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues

    Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues by Jiadi Wen, Brittany Grommisch, Autumn DiAdamo, Hongyan Chai, Sok Meng Evelyn Ng, Pei Hui, Allen Bale, Winifred Mak, Guilin Wang, Peining Li

    Published 2021-04-01
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