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Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype

Molecular cytogenetics, 2022-06, Vol.15 (1), p.21-21, Article 21

2022

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Incidence of Down Syndrome by maternal age in Chinese population

Frontiers in genetics, 2022-08, Vol.13, p.980627-980627

2022

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Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

Journal of translational medicine, 2022-01, Vol.20 (1), p.10-10, Article 10

2022

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Clinical and genetic study of three families with 15q11q13 duplications

Taiwanese journal of obstetrics & gynecology, 2022-07, Vol.61 (4), p.717-721

2022

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Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies

Frontiers in genetics, 2023-08, Vol.14, p.1170720-1170720

2023

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A rare case of uniparental isodisomy of chromosome 19 with no phenotypic abnormalities

Taiwanese journal of obstetrics & gynecology, 2021-03, Vol.60 (2), p.376-377

2021

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A rare case of complete uniparental isodisomy of chromosome 2 with no phenotypic abnormalities

Taiwanese journal of obstetrics & gynecology, 2021-03, Vol.60 (2), p.378-379

2021

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Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

BMC medical genomics, 2023-10, Vol.16 (1), p.1-262, Article 262

2023

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Perinatal outcomes of prenatal cases testing positive for trisomy 9 by noninvasive prenatal testing

Taiwanese journal of obstetrics & gynecology, 2022-11, Vol.61 (6), p.965-970

2022

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Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing

Npj genomic medicine, 2022-05, Vol.7 (1), p.31-31, Article 31

2022

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The value of 68Ga-PSMA PET/CT in the diagnosis of intracapsular prostate cancer with a poor prognosis

Discover. Oncology, 2024-07, Vol.15 (1), p.252-11, Article 252

2024

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A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

Frontiers in genetics, 2022-10, Vol.13, p.1046096-1046096

2022

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Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening

Cell discovery, 2022-10, Vol.8 (1), p.109-109, Article 109

2022

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Two Novel Mutations in the C-Terminal Region of Centrosomal Protein 290 (CEP290) Result in Classic Joubert Syndrome

Journal of child neurology, 2015-05, Vol.30 (6), p.772-776

2015

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Paternal cadmium exposure induces glucolipid metabolic reprogramming in offspring mice via PPAR signaling pathway

Chemosphere (Oxford), 2023-10, Vol.339, p.139592-139592, Article 139592

2023

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Initial Experience of Domestic Simultaneous PET/MR in the Detection of Metastases and/or Recurrence

The Journal of nuclear medicine (1978), 2019-05, Vol.60

2019

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Anlotinib for the treatment of locally advanced or metastatic pheochromocytoma and paraganglioma: A retrospective study

Journal of clinical oncology, 2022-06, Vol.40 (16_suppl), p.e16209-e16209

2022

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Evaluating ClinGen variant curation expert panels' application of PVS1 code

European journal of medical genetics, 2024-02, Vol.67, p.104909-104909, Article 104909

2024

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Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis

Clinical biochemistry, 2023-03, Vol.113, p.64-69

2023

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The prevalence and outcomes of α- and β-thalassemia among pregnant women in Hubei Province, Central China: An observational study

Medicine (Baltimore), 2022-03, Vol.101 (9), p.e28790

2022

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A Mettl16/m6A/mybl2b/Igf2bp1 axis ensures cell cycle progression of embryonic hematopoietic stem and progenitor cells

The EMBO journal, 2024-05, Vol.43 (10), p.1990-2014

2024

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Non-invasive Prenatal Diagnosis of Chromosomal Aneuploidies and Microdeletion Syndrome Using Fetal Nucleated Red Blood Cells Isolated by Nanostructure Microchips

Theranostics, 2018-01, Vol.8 (5), p.1301-1311

2018

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Decidual vascular endothelial cells promote maternal–fetal immune tolerance by inducing regulatory T cells through canonical Notch1 signaling

Immunology and cell biology, 2016-05, Vol.94 (5), p.458-469

2016

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Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly

Clinical dysmorphology, 2022-01, Vol.31 (1), p.1-5

2022

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Comparison of various PET metabolic parameters between left and right-sided colon cancer

The Journal of nuclear medicine (1978), 2018-05, Vol.59, p.1397

2018

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Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype

Incidence of Down Syndrome by maternal age in Chinese population

Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

Clinical and genetic study of three families with 15q11q13 duplications

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies

A rare case of uniparental isodisomy of chromosome 19 with no phenotypic abnormalities

A rare case of complete uniparental isodisomy of chromosome 2 with no phenotypic abnormalities

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

Perinatal outcomes of prenatal cases testing positive for trisomy 9 by noninvasive prenatal testing

Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing

The value of 68Ga-PSMA PET/CT in the diagnosis of intracapsular prostate cancer with a poor prognosis

A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening

Two Novel Mutations in the C-Terminal Region of Centrosomal Protein 290 (CEP290) Result in Classic Joubert Syndrome

Paternal cadmium exposure induces glucolipid metabolic reprogramming in offspring mice via PPAR signaling pathway

Initial Experience of Domestic Simultaneous PET/MR in the Detection of Metastases and/or Recurrence

Anlotinib for the treatment of locally advanced or metastatic pheochromocytoma and paraganglioma: A retrospective study

Evaluating ClinGen variant curation expert panels' application of PVS1 code

Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis

The prevalence and outcomes of α- and β-thalassemia among pregnant women in Hubei Province, Central China: An observational study

A Mettl16/m6A/mybl2b/Igf2bp1 axis ensures cell cycle progression of embryonic hematopoietic stem and progenitor cells

Non-invasive Prenatal Diagnosis of Chromosomal Aneuploidies and Microdeletion Syndrome Using Fetal Nucleated Red Blood Cells Isolated by Nanostructure Microchips

Decidual vascular endothelial cells promote maternal–fetal immune tolerance by inducing regulatory T cells through canonical Notch1 signaling

Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly

Comparison of various PET metabolic parameters between left and right-sided colon cancer

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