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Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants

Frontiers in genetics, 2023-12, Vol.14, p.1254265-1254265

2023

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Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses

Genome medicine, 2022-10, Vol.14 (1), p.1-123, Article 123

2022

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A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family

Journal of dermatology, 2019-11, Vol.46 (11), p.e393-e395

2019

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Evaluation of the Z‐score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18 and 21 at a single center

Prenatal diagnosis, 2021-05, Vol.41 (6), p.690-696

2021

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PDIA2 variant associated with vitiligo

Skin health and disease, 2023-10, Vol.3 (5), p.e278-e278

2023

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The Genetic and Clinical Outcomes in Fetuses With Isolated Fetal Growth Restriction: A Chinese Single-Center Retrospective Study

Frontiers in genetics, 2022-04, Vol.13, p.856522-856522

2022

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Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China

Pediatrics and neonatology, 2019-02, Vol.60 (1), p.35-42

2019

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Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing

Frontiers in genetics, 2022-09, Vol.13, p.951829-951829

2022

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Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency

Genes, 2023-01, Vol.14 (1), p.140

2023

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Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis

Molecular cytogenetics, 2022-06, Vol.15 (1), p.1-27, Article 27

2022

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Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study

Genes, 2022-09, Vol.13 (9), p.1573

2022

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Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China

Molecular cytogenetics, 2023-02, Vol.16 (1), p.3-3, Article 3

2023

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Prenatal Diagnosis and Outcomes in Fetuses with Hemivertebra

Genes, 2022-09, Vol.13 (9), p.1623

2022

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A Deep-Learning-Based Method Can Detect Both Common and Rare Genetic Disorders in Fetal Ultrasound

Biomedicines, 2023-06, Vol.11 (6), p.1756

2023

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Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations

The Journal of pediatrics, 2016-07, Vol.174, p.204-210.e1

2016

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Prader-Willi Syndrome With a Long-Contiguous Stretch of Homozygosity Not Covering the Critical Region

Journal of child neurology, 2015-03, Vol.30 (3), p.371-377

2015

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Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

Imaging Science in Dentistry, 2015, 45(3), , pp.187-192

2015

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Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

Imaging science in dentistry, 2015, Vol.45 (3), p.187

2015

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Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family

Neurological sciences, 2023-04, Vol.44 (4), p.1451-1453

2023

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Association of prenatal thoracic ultrasound abnormalities with copy number variants at a single Chinese tertiary center

International journal of gynecology and obstetrics, 2024-02, Vol.164 (2), p.770-777

2024

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Prenatal exome sequencing in fetuses with congenital heart defects

Clinical genetics, 2020-09, Vol.98 (3), p.215-230

2020

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Multiple Facial Expressions Synthesis Driven by Editable Line Maps

2020 IEEE International Conference on Systems, Man, and Cybernetics (SMC), 2020, p.1645-1650

2020

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IEEE_Xplore

Genetic tests aid in counseling of fetuses with cerebellar vermis defects

Prenatal diagnosis, 2020-09, Vol.40 (10), p.1228-1238

2020

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Prenatal diagnosis and outcomes in fetuses with duplex kidney

International journal of gynecology and obstetrics, 2024-07, Vol.166 (1), p.353-359

2024

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Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

Prenatal diagnosis, 2018-10, Vol.38 (11), p.849-857

2018

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Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses

A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family

Evaluation of the Z‐score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18 and 21 at a single center

PDIA2 variant associated with vitiligo

The Genetic and Clinical Outcomes in Fetuses With Isolated Fetal Growth Restriction: A Chinese Single-Center Retrospective Study

Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China

Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing

Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis

Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study

Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China

Prenatal Diagnosis and Outcomes in Fetuses with Hemivertebra

A Deep-Learning-Based Method Can Detect Both Common and Rare Genetic Disorders in Fetal Ultrasound

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations

Prader-Willi Syndrome With a Long-Contiguous Stretch of Homozygosity Not Covering the Critical Region

Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family

Association of prenatal thoracic ultrasound abnormalities with copy number variants at a single Chinese tertiary center

Prenatal exome sequencing in fetuses with congenital heart defects

Multiple Facial Expressions Synthesis Driven by Editable Line Maps

Genetic tests aid in counseling of fetuses with cerebellar vermis defects

Prenatal diagnosis and outcomes in fetuses with duplex kidney

Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

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