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De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study

International journal of molecular sciences, 2024-02, Vol.25 (3), p.1763

2024

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Origin and timing of de novo variants implicated in type 2 von Willebrand disease

Journal of cellular and molecular medicine, 2022-11, Vol.26 (21), p.5403-5413

2022

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Difficulties of Prenatal Genetic Counseling for a Subsequent Child in a Family With Multiple Genetic Variations

Frontiers in genetics, 2021-12, Vol.12, p.612100-612100

2021

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Preimplantation genetic diagnosis and screening: Current status and future challenges

Journal of the Formosan Medical Association, 2018-02, Vol.117 (2), p.94-100

2018

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Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients

Diagnostics (Basel), 2022-09, Vol.12 (10), p.2267

2022

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Proposal for Practical Approach in Prenatal Diagnosis of Beckwith–Wiedemann Syndrome and Review of the Literature

Diagnostics (Basel), 2022-07, Vol.12 (7), p.1709

2022

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Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome

Taiwanese journal of obstetrics & gynecology, 2023-07, Vol.62 (4), p.577-581

2023

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Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses

Genes, 2020-08, Vol.11 (9), p.979

2020

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Polyhydramnios as a sole ultrasonographic finding for detecting fetal hemolytic anemia caused by anti-c alloimmunization

Taiwanese journal of obstetrics & gynecology, 2022-07, Vol.61 (4), p.722-725

2022

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Benefits and risks of low molecular weight heparin use on reproductive outcomes: A retrospective cohort study

Taiwanese journal of obstetrics & gynecology, 2022-09, Vol.61 (5), p.812-817

2022

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A Silicon-based Coral-like Nanostructured Microfluidics to Isolate Rare Cells in Human Circulation: Validation by SK-BR-3 Cancer Cell Line and Its Utility in Circulating Fetal Nucleated Red Blood Cells

Micromachines (Basel), 2019-02, Vol.10 (2), p.132

2019

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Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment

Diagnostics (Basel), 2021-12, Vol.11 (12), p.2395

2021

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Noninvasive prenatal diagnosis of fetal aneuploidy by circulating fetal nucleated red blood cells and extravillous trophoblasts using silicon-based nanostructured microfluidics

Molecular cytogenetics, 2017-12, Vol.10 (1), p.44-44, Article 44

2017

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Genotype and phenotype studies of Lowe syndrome in three families in Taiwan

Pediatrics and neonatology, 2021-05, Vol.62 (3), p.327-328

2021

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Prenatal diagnosis of partial monosomy 21q (21q22.1→qter) associated with intrauterine growth restriction and corpus callosum dysgenesis

Taiwanese journal of obstetrics & gynecology, 2020-01, Vol.59 (1), p.157-161

2020

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Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in PPIB Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound

Diagnostics (Basel), 2020-05, Vol.10 (5), p.286

2020

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Molecular cytogenetic characterization of a de novo small supernumerary marker chromosome derived from chromosome 15 in a pregnancy with incidental detection of a maternal Robertsonian translocation of 45,XX,der(13;14) (q10;q10)

Taiwanese journal of obstetrics & gynecology, 2022-01, Vol.61 (1), p.132-134

2022

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Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the AGT Gene

Diagnostics (Basel), 2019-11, Vol.9 (4), p.185

2019

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Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?

Diagnostics (Basel), 2021-06, Vol.11 (6), p.1102

2021

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Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome

Taiwanese journal of obstetrics & gynecology, 2021-03, Vol.60 (2), p.345-349

2021

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Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray

Diagnostics (Basel), 2021-08, Vol.11 (8), p.1457

2021

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Application of molecular cytogenetic techniques to characterize the aberrant Y chromosome arising de novo in a male fetus with mosaic 45,X and solve the discrepancy between karyotyping, chromosome microarray, and multiplex ligation dependent probe amplification

Journal of the Formosan Medical Association, 2018-11, Vol.117 (11), p.1027-1031

2018

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Fosmid library end sequencing reveals a rarely known genome structure of marine shrimp Penaeus monodon

BMC genomics, 2011-05, Vol.12 (1), p.242-242, Article 242

2011

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Genome-Wide Microarray Analysis Suggests Transcriptomic Response May Not Play a Major Role in High- to Low-Altitude Acclimation in Harvest Mouse ( Micromys minutus )

Animals (Basel), 2019-03, Vol.9 (3), p.92

2019

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Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory

Diagnostics (Basel), 2019-04, Vol.9 (2), p.44

2019

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De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study

Origin and timing of de novo variants implicated in type 2 von Willebrand disease

Difficulties of Prenatal Genetic Counseling for a Subsequent Child in a Family With Multiple Genetic Variations

Preimplantation genetic diagnosis and screening: Current status and future challenges

Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients

Proposal for Practical Approach in Prenatal Diagnosis of Beckwith–Wiedemann Syndrome and Review of the Literature

Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome

Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses

Polyhydramnios as a sole ultrasonographic finding for detecting fetal hemolytic anemia caused by anti-c alloimmunization

Benefits and risks of low molecular weight heparin use on reproductive outcomes: A retrospective cohort study

A Silicon-based Coral-like Nanostructured Microfluidics to Isolate Rare Cells in Human Circulation: Validation by SK-BR-3 Cancer Cell Line and Its Utility in Circulating Fetal Nucleated Red Blood Cells

Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment

Noninvasive prenatal diagnosis of fetal aneuploidy by circulating fetal nucleated red blood cells and extravillous trophoblasts using silicon-based nanostructured microfluidics

Genotype and phenotype studies of Lowe syndrome in three families in Taiwan

Prenatal diagnosis of partial monosomy 21q (21q22.1→qter) associated with intrauterine growth restriction and corpus callosum dysgenesis

Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in PPIB Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound

Molecular cytogenetic characterization of a de novo small supernumerary marker chromosome derived from chromosome 15 in a pregnancy with incidental detection of a maternal Robertsonian translocation of 45,XX,der(13;14) (q10;q10)

Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the AGT Gene

Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?

Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome

Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray

Application of molecular cytogenetic techniques to characterize the aberrant Y chromosome arising de novo in a male fetus with mosaic 45,X and solve the discrepancy between karyotyping, chromosome microarray, and multiplex ligation dependent probe amplification

Fosmid library end sequencing reveals a rarely known genome structure of marine shrimp Penaeus monodon

Genome-Wide Microarray Analysis Suggests Transcriptomic Response May Not Play a Major Role in High- to Low-Altitude Acclimation in Harvest Mouse ( Micromys minutus )

Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory

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