Ru Li

C. Liao, Dongzhi Li, F. Fu, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease

C. Liao, Dongzhi Li, T. Lei, 2020, Human Genetics.

Prevention of Hb Bart’s (γ4) Disease Associated with the – –THAI α0-Thalassemia Deletion in Mainland China

Dongzhi Li, Ru Li, Jian Li, 2015, Hemoglobin.

Prenatal Control of Hb Bart’s Disease in Mainland China: Can We Do Better?

Dongzhi Li, Ru Li, P. He, 2014, Hemoglobin.

Prenatal control of nondeletional α‐thalassemia: first experience in mainland China

C. Liao, Dongzhi Li, Ru Li, 2013, Prenatal diagnosis.

Screening for mutations in the α-globin genes leading to abnormal hemoglobin variants with high resolution melting analysis

C. Liao, Dongzhi Li, Ru Li, 2012, Clinical chemistry and laboratory medicine.

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

C. Liao, P. Fang, Dongzhi Li, 2022, Genome Medicine.

Prenatal Diagnosis and Outcomes in Fetuses with Hemivertebra

C. Liao, Dongzhi Li, T. Lei, 2022, Genes.

Prenatal exome sequencing in fetuses with callosal anomalies

C. Liao, Dongzhi Li, T. Lei, 2022, Prenatal diagnosis.

Rare copy number variants in the genome of Chinese female children and adolescents with Turner syndrome

Ru Li, Huishu Liu, G. Lash, 2018, Bioscience reports.

A Novel α-Thalassemia Frameshift Mutation: Codon 8 (–C)

C. Liao, Dongzhi Li, Ru Li, 2012, Hemoglobin.

Identification of differential microRNAs and messenger RNAs resulting from ASXL transcriptional regulator 3 knockdown during during heart development

C. Liao, Dongzhi Li, T. Lei, 2022, Bioengineered.

A New Hemoglobin Variant: Hb Henan [β90(F6)Glu → Gln; HBB: c.271G < C]

C. Liao, Dongzhi Li, Ru Li, 2014, Hemoglobin.

Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease

C. Liao, Dongzhi Li, T. Lei, 2020, Human Genetics.

Affected-embryo-based SNP haplotyping with NGS for the preimplantation genetic testing of Marfan syndrome

Ru Li, Ling Sun, Zhiheng Chen, 2021, Systems biology in reproductive medicine.

Newborn Screening for Hb H Disease by Determination of Hb Bart’s Using the Sebia Capillary Electrophoresis System in Southern China

C. Liao, Dongzhi Li, Ru Li, 2014, Hemoglobin.

Compound Heterozygosity for HKαα and an in Cis Deletion of Double α Genes Presents as α-Thalassemia Trait

C. Liao, Dongzhi Li, Ru Li, 2015, Hemoglobin.

The Value of a Comprehensive Genomic Evaluation in Prenatal Diagnosis of Genetic Diseases: A Retrospective Study

C. Liao, Dongzhi Li, F. Fu, 2022, Genes.

Prenatal diagnosis of fetuses with increased nuchal translucency using an approach based on quantitative fluorescent polymerase chain reaction and genomic microarray.

C. Liao, Dongzhi Li, Ru Li, 2016, European journal of obstetrics, gynecology, and reproductive biology.

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing

Ru Li, Jing Wu, Hongrong Luo, 2014, Proceedings of the National Academy of Sciences.

Contribution of maternal mosaicism to false-positive chromosome X loss associated with noninvasive prenatal testing

C. Liao, Dongzhi Li, F. Fu, 2022, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21

C. Liao, Dongzhi Li, F. Fu, 2020, Prenatal diagnosis.

Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract

C. Liao, Dongzhi Li, T. Lei, 2017, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Case Report: Prenatal Diagnosis of Hb Hammersmith [β42(CD1)Phe→Ser; HBB: c.128T > C] in a Family with an Adult Male Patient

Dongzhi Li, Ru Li, Xing-mei Xie, 2014, Hemoglobin.

Phenotypic Variability in a Chinese Family with Nondeletional Hb H-Hb Quong Sze Disease

C. Liao, Dongzhi Li, Ru Li, 2011, Hemoglobin.

A novel β-globin gene deletion (codons 89–93) in a Chinese family

C. Liao, Dongzhi Li, Ru Li, 2010, Annals of Hematology.

Copy Number Variation Analysis of Euploid Pregnancy Loss

Kuanrong Li, Ru Li, Xinyu Dai, 2022, Frontiers in Genetics.

Alteration of long non-coding RNAs and mRNAs expression profiles by compound heterozygous ASXL3 mutations in the mouse brain

C. Liao, F. Fu, Ru Li, 2021, Bioengineered.

Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene

Ru Li, Xin Yang, Jin Han, 2023, Frontiers in Genetics.

Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency

C. Liao, F. Fu, Ru Li, 2023, Genes.

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

C. Liao, Dongzhi Li, T. Lei, 2019, Pediatrics and neonatology.

Prenatal diagnosis and pregnancy outcome analysis of thickened nuchal fold in the second trimester

C. Liao, F. Fu, Ru Li, 2018, Medicine.

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

C. Liao, Dongzhi Li, Ru Li, 2018, Prenatal diagnosis.

Chromosomal Aneuploidy Associated With Clinical Characteristics of Pregnancy Loss

Kuanrong Li, Ru Li, Xinyu Dai, 2021, Frontiers in Genetics.

Insufficient fetal fraction of cell-free DNA in non-invasive prenatal testing: Not always true.

Dongzhi Li, Ru Li, J. Wan, 2021, European journal of obstetrics, gynecology, and reproductive biology.

Prenatal diagnosis of trisomy 18 rescue resulting in mosaic of two different diploid cell lines in a hydropic fetus.

C. Liao, F. Fu, Ru Li, 2018, European journal of obstetrics, gynecology, and reproductive biology.

Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.

C. Liao, Dongzhi Li, F. Fu, 2013, European journal of medical genetics.

Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis

Dongzhi Li, Ru Li, Ying-Na Liu, 2011, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Cord Blood Analysis for Rapid Prenatal Confirmation of Hb Bart’s Disease Using the Sebia Capillary Electrophoresis System

C. Liao, Dongzhi Li, Ru Li, 2012, Hemoglobin.

High-resolution array-comparative genomic hybridization profiling reveals 20q13.33 alterations associated with ovarian endometriosis

F. Fu, Ru Li, Wenqing Yang, 2013, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping

Peixiang Ni, Zhiyu Peng, Jian Li, 2021, Genome medicine.

Genetic tests aid in counseling of fetuses with cerebellar vermis defects

C. Liao, Ru Li, Qiuxia Yu, 2020, Prenatal diagnosis.

Consequences of Delayed Prenatal Diagnosis of β-Thalassemia in Mainland China

Dongzhi Li, Ru Li, Jian Li, 2016, Hemoglobin.

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

Ru Li, Xin Yang, L. Zhen, 2023, Molecular Cytogenetics.

Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects.

C. Liao, T. Lei, F. Fu, 2016, Taiwanese journal of obstetrics & gynecology.

Nonimmune hydrops fetalis: Genetic analysis and clinical outcome

C. Liao, T. Lei, F. Fu, 2020, Prenatal diagnosis.

What can be inferred if the fetal increased nuchal translucency thickness changes?

C. Liao, Dongzhi Li, Ru Li, 2018, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

A novel splicing mutation of ARHGAP29 is associated with nonsyndromic cleft lip with or without cleft palate

Shaoqing Wu, C. Liao, Dongzhi Li, 2020, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker malformation on chromosome 7p21.3.

C. Liao, Dongzhi Li, F. Fu, 2012, European journal of medical genetics.

Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy.

Zhiyu Peng, C. Liao, Dongzhi Li, 2022, American journal of obstetrics & gynecology MFM.

Submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency and normal karyotype

C. Liao, Dongzhi Li, F. Fu, 2017, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.

B. Zeng, Ru Li, Bin Hu, 2016, Gene.

Application of high resolution SNP arrays in patients with congenital oral clefts in south China

C. Liao, T. Lei, F. Fu, 2016, Journal of Genetics.

Whole exome sequencing improves genetic diagnosis of fetal clubfoot

C. Liao, T. Lei, F. Fu, 2022, Human Genetics.

Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies.

C. Liao, Dongzhi Li, F. Fu, 2014, Taiwanese journal of obstetrics & gynecology.

Prenatal Diagnosis and Prognosis of Fetal Hyperechogenic Kidney: A Study of 80 Cases

C. Liao, Ru Li, L. Zhen, 2021 .

Implementation of Newborn Screening for Hemoglobin H Disease in Mainland China

C. Liao, Dongzhi Li, Ru Li, 2015, Indian Journal of Hematology and Blood Transfusion.

Prenatal diagnosis of an atypical 1q21.1 microdeletion and duplication associated with foetal urogenital abnormalities.

C. Liao, Dongzhi Li, F. Fu, 2012, Gene.

Identification of Nondeletional α-Thalassemia in a Prenatal Screening Program by Reverse Dot-Blot in Southern China

Dongzhi Li, Ru Li, Jian Li, 2015, Hemoglobin.

Screening for Common Nondeletional α-Thalassemias in Chinese Newborns by Determination of Hb Bart’s Using the Sebia Capillarys 2 Electrophoresis System

C. Liao, Dongzhi Li, Ru Li, 2012, Hemoglobin.

Detection of Hb Constant Spring [α142, Term→Gln, TAA>CAA (α2)] in Heterozygotes Combined With β-Thalassemia

Dongzhi Li, Ru Li, Youqiong Li, 2013, Hemoglobin.

Detection of Hb Constant Spring by a Capillary Electrophoresis Method

C. Liao, Dongzhi Li, Ru Li, 2010, Hemoglobin.

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

C. Liao, Dongzhi Li, F. Fu, 2022, Genes.

[Value of chromosomal microarray analysis for fetuses with duodenal obstruction].

C. Liao, F. Fu, Ru Li, 2021, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Genetic diagnosis of fetal microcephaly at a single tertiary center in China

C. Liao, T. Lei, F. Fu, 2023, Frontiers in Genetics.

All‐trans‐retinoid acid induces the differentiation of P19 cells into neurons involved in the PI3K/Akt/GSK3β signaling pathway

C. Liao, Dongzhi Li, T. Lei, 2020, Journal of cellular biochemistry.

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

C. Liao, Ru Li, Xin Yang, 2023, Biomedicines.

Genetic causes of isolated and severe fetal growth restriction in normal chromosomal microarray analysis

C. Liao, T. Lei, F. Fu, 2022, International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics.

Case Report: Two Novel L1CAM Mutations in Two Unrelated Chinese Families With X-Linked Hydrocephalus

C. Liao, Dongzhi Li, F. Fu, 2022, Frontiers in Genetics.

PDIA2 variant associated with vitiligo

C. Liao, Ru Li, X. Jing, 2023, Skin health and disease.

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

C. Liao, Ru Li, X. Jing, 2022, Neurological Sciences.

[Analysis of 22 patients with congenital cleft lip and palate using high-resolution chromosome microarray].

G. Xie, C. Liao, Ying Zhang, 2014, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities

C. Liao, Dongzhi Li, T. Lei, 2017, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

ASXL3 gene mutations inhibit cell proliferation and promote cell apoptosis in mouse cardiomyocytes by upregulating lncRNA NONMMUT063967.2

C. Liao, Dongzhi Li, T. Lei, 2023, Biochemistry and biophysics reports.

Detection of fetal copy number variants by non‐invasive prenatal testing for common aneuploidies

C. Liao, Dongzhi Li, F. Fu, 2016, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Ndufa4 Regulates the Proliferation and Apoptosis of Neurons via miR-145a-5p/Homer1/Ccnd2

C. Liao, Dongzhi Li, T. Lei, 2023, Molecular Neurobiology.

[Dandy-walker syndrome and microdeletions on chromosome 7].

C. Liao, Dongzhi Li, F. Fu, 2012, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Prenatal control of Hb Bart’s hydrops fetalis: a two-year experience at a mainland Chinese hospital

C. Liao, Dongzhi Li, Ru Li, 2015, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Exome sequencing improves genetic diagnosis of congenital orofacial clefts

C. Liao, T. Lei, F. Fu, 2023, Frontiers in genetics.

Should Prenatal Chromosomal Microarray Analysis Be Offered for Pulmonary Atresia? A Single-Center Retrospective Study in China

C. Liao, F. Fu, Ru Li, 2023, Genes.

Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing

F. Fu, Ru Li, Ruibin Huang, 2023, Frontiers in genetics.

Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations

C. Liao, T. Lei, F. Fu, 2023, Genes.

Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing

C. Liao, T. Lei, F. Fu, 2023, Human Genetics.

Prenatal diagnosis and outcomes in fetuses with duplex kidney

F. Fu, Ru Li, Lushan Li, 2024, International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics.

Implementation of high‐resolution SNP arrays in the investigation of fetuses with ultrasound malformations: 5 years of clinical experience

G. Xie, C. Liao, F. Fu, 2014, Clinical genetics.