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Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion

The journal of obstetrics and gynaecology research, 2021-11, Vol.47 (11), p.3779-3788

2021

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Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism

Clinica chimica acta, 2017-05, Vol.468, p.76-80

2017

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Noninvasive Prenatal Testing Using Fetal Fraction Enrichment—A Pilot Study

Clinical and experimental obstetrics & gynecology, 2024-05, Vol.51 (5), p.114

2024

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Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients

Clinica chimica acta, 2016-07, Vol.458, p.30-34

2016

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CNV profiles of Chinese pediatric patients with developmental disorders

Genetics in medicine, 2021-04, Vol.23 (4), p.669-678

2021

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Novel pathogenic ACAN variants in non-syndromic short stature patients

Clinica chimica acta, 2017-06, Vol.469, p.126-129

2017

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Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature

BMC medical genomics, 2020-12, Vol.13 (1), p.183-183, Article 183

2020

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Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

Frontiers in genetics, 2020-06, Vol.11, p.592-592

2020

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Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients

Clinica chimica acta, 2016-11, Vol.462, p.127-132

2016

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A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

BMC medical genetics, 2020-05, Vol.21 (1), p.100-7, Article 100

2020

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The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH

Endocrine Connections, 2017-11, Vol.6 (8), p.926-934

2017

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Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Molecular cytogenetics, 2019-12, Vol.12 (1), p.49-6, Article 49

2019

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Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement

Molecular genetics & genomic medicine, 2021-04, Vol.9 (4), p.e1624-n/a

2021

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Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Archives of Endocrinology and Metabolism, 2016-08, Vol.60 (4), p.323-327

2016

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Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship

Molecular genetics & genomic medicine, 2020-05, Vol.8 (5), p.e1212-n/a

2020

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Mosaic UPD(7q)mat in a patient with silver Russell syndrome

Molecular cytogenetics, 2017-10, Vol.10 (1), p.36-7, Article 36

2017

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Prenatal chromosomal microarray analysis and karyotyping in fetuses with isolated choroid plexus cyst: A retrospective case-control study

European journal of obstetrics & gynecology and reproductive biology, 2024-06, Vol.297, p.91-95

2024

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Targeted addition of mini-dystrophin into rDNA locus of Duchenne muscular dystrophy patient-derived iPSCs

Biochemical and biophysical research communications, 2021-03, Vol.545, p.40-45

2021

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The application of expanded noninvasive prenatal screening for genome-wide chromosomal abnormalities and genetic counseling

The journal of maternal-fetal & neonatal medicine, 2021-08, Vol.34 (16), p.2710-2716

2021

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Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POUIFI and ATP6V0A4

International journal of general medicine, 2023-08, Vol.16, p.3355

2023

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The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity

Clinica chimica acta, 2020-01, Vol.500, p.128-134

2020

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Clinical application of whole-exome sequencing: A retrospective, single-center study

Experimental and therapeutic medicine, 2021-07, Vol.22 (1), Article 753

2021

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Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4

International journal of general medicine, 2023-01, Vol.16, p.3355-3362

2023

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Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations

Clinica chimica acta, 2019-02, Vol.489, p.103-108

2019

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Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China

Genes, 2021-03, Vol.12 (4), p.478

2021

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Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism

Noninvasive Prenatal Testing Using Fetal Fraction Enrichment—A Pilot Study

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients

CNV profiles of Chinese pediatric patients with developmental disorders

Novel pathogenic ACAN variants in non-syndromic short stature patients

Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship

Mosaic UPD(7q)mat in a patient with silver Russell syndrome

Prenatal chromosomal microarray analysis and karyotyping in fetuses with isolated choroid plexus cyst: A retrospective case-control study

Targeted addition of mini-dystrophin into rDNA locus of Duchenne muscular dystrophy patient-derived iPSCs

The application of expanded noninvasive prenatal screening for genome-wide chromosomal abnormalities and genetic counseling

Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POUIFI and ATP6V0A4

The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity

Clinical application of whole-exome sequencing: A retrospective, single-center study

Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4

Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations

Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China

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