D. Liang

D. Liang, Biao Yin, Yuanchang Zhu, 2017, International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics.

Mutation analysis in Chinese patients with Cornelia de Lange syndrome.

D. Liang, J. Xue, Lingqian Wu, 2012, Genetic testing and molecular biomarkers.

A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation

D. Liang, Zhigao Long, Lingqian Wu, 2011, American journal of medical genetics. Part A.

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review

D. Liang, Lingqian Wu, Haoxian Li, 2016, American Journal of Medical Genetics. Part A.

[The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia].

D. Liang, Z. Chen, Q. Wang, 2020, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.

Desheng Liang, Lingqian Wu, D. Liang, 2018, International heart journal.

Increase in diagnostic yield achieved for 174 whole-exome sequencing cases reanalyzed 1 to 2 years after initial analysis.

D. Liang, Zhuo Li, Lingqian Wu, 2021, Clinica chimica acta; international journal of clinical chemistry.

A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree.

D. Liang, J. Xue, Q. Gao, 2016, Clinica chimica acta; international journal of clinical chemistry.

Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations

D. Liang, L. Liang, Zhuo Li, 2022, Frontiers in Genetics.

Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

Yaping Tian, D. Liang, Zhehui Chen, 2020, Orphanet Journal of Rare Diseases.

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Xiaoping Yang, D. Liang, Xuefan Gu, 2018, American journal of human genetics.

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1

D. Liang, Zhuo Li, Lingqian Wu, 2018, BioMed research international.

Two novel NPHS 1 mutations in a Chinese family with congenital nephrotic syndrome

L. Wu, D. Liang, J. Xue, 2011 .

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

D. Liang, Lingqian Wu, Haoxian Li, 2016, Clinica chimica acta; international journal of clinical chemistry.

Behavioral and Gene Expression Analysis of Stxbp6-Knockout Mice

D. Liang, Lingqian Wu, Qian Hu, 2021, Brain sciences.

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

D. Liang, Lingqian Wu, Zhiqing Hu, 2021, Biochemical and biophysical research communications.

Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome

N. Matsumoto, T. Ohta, D. Liang, 2019, Journal of Human Genetics.

De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease

Q. Pan, D. Liang, Lingqian Wu, 2015, Molecular Cytogenetics.

Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).

D. Liang, D. Cram, Lingqian Wu, 2015, Clinical chemistry.

Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome

D. Liang, Lingqian Wu, Ying Peng, 2015, Molecular Cytogenetics.

Restoration of SMN expression in mesenchymal stem cells derived from gene-targeted patient-specific iPSCs

Qianru Sun, D. Liang, Zhuo Li, 2018, Journal of Molecular Histology.

Cas12a and Lateral Flow Strip-Based Test for Rapid and Ultrasensitive Detection of Spinal Muscular Atrophy

D. Liang, Zhuo Li, Lingqian Wu, 2021, Biosensors.

A patient with apparently reciprocal translocation and cryptic 10p deletion

D. Liang, Lingqian Wu, W. Lv, 2011, American journal of medical genetics. Part A.

ssODN-Mediated In-Frame Deletion with CRISPR/Cas9 Restores FVIII Function in Hemophilia A-Patient-Derived iPSCs and ECs

D. Liang, Zhuo Li, Lingqian Wu, 2019, Molecular therapy. Nucleic acids.

Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification

D. Liang, Zhuo Li, Lingqian Wu, 2019, Medicine.

Mutation analysis of the SRY, NR5A1, and DHH genes in six Chinese 46,XY women

D. Liang, Lingqian Wu, Yanping Li, 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.

Effect of simultaneous observation of early cleavage and syngamy on clinical pregnancy in IVF and ICSI cycles

D. Liang, Lei Dai, Lingqian Wu, 2019 .

Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.

D. Liang, J. Xue, Lingqian Wu, 2012, Molecular genetics and metabolism.

Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.

D. Liang, Zhuo Li, Lingqian Wu, 2021, Clinica chimica acta; international journal of clinical chemistry.

Pallister-Killian syndrome: meiosis II non-disjunction may be the first step in the formation of isochromosome 12p.

D. Liang, Ling-Qian Wu, Yan Xia, 2010, Chinese Medical Journal.

Genetic testing for the diagnosis and classification of joint hypermobility: a case report of 15 patients

D. Liang, Zhuo Li, Lingqian Wu, 2020 .

Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review

D. Liang, Lingqian Wu, W. Lv, 2018, Journal of Human Genetics.

Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4

M. Frith, K. Katoh, N. Matsumoto, 2020, Journal of Human Genetics.

Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families.

D. Liang, Zhuo Li, Lingqian Wu, 2022, Clinica chimica acta; international journal of clinical chemistry.

Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings.

D. Liang, Zhuo Li, Lingqian Wu, 2018, Gene.

Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism

D. Liang, Zhuo Li, Lingqian Wu, 2023, International journal of molecular sciences.

Mesenchymal stem cells derived from iPSCs expressing interleukin-24 inhibit the growth of melanoma in the tumor-bearing mouse model

D. Liang, Lingqian Wu, Wei Liu, 2020, Cancer cell international.

Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia.

L. Wu, D. Liang, J. Xue, 2015, Genetics and molecular research : GMR.

Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome

D. Liang, Lingqian Wu, Ying Peng, 2015, Molecular Cytogenetics.

Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family

Haoran Hu, D. Liang, Zhuo Li, 2023, Frontiers in Genetics.

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing

D. Liang, Zhuo Li, Lingqian Wu, 2023, Thrombosis and Haemostasis.

Generation of reporter hESCs by targeting EGFP at the CD144 locus to facilitate the endothelial differentiation

D. Liang, Zhuo Li, Lingqian Wu, 2018, Development, growth & differentiation.

Correction of F8 intron 1 inversion in hemophilia A patient-specific iPSCs by CRISPR/Cas9 mediated gene editing

D. Liang, Lingqian Wu, Yong Wu, 2023, Frontiers in Genetics.

[Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus].

K. Xia, Q. Pan, D. Liang, 2009, Yi chuan = Hereditas.

A protospacer adjacent motif‐free, multiplexed, and quantitative nucleic acid detection platform with barcode‐based Cas12a activity

D. Liang, Zhuo Li, Lingqian Wu, 2023, MedComm.

Full-Length Dystrophin Restoration via Targeted Exon Addition in DMD-Patient Specific iPSCs and Cardiomyocytes

D. Liang, Lingqian Wu, Zhiqing Hu, 2022, International journal of molecular sciences.

Silica nanoparticle is a possible safe carrier for gene therapy

K. Xia, Q. Pan, D. Liang, 2005 .

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I

D. Liang, Zhuo Li, Lingqian Wu, 2023, Frontiers in genetics.

CRISPR-Mediated In Situ Introduction or Integration of F9-Padua in Human iPSCs for Gene Therapy of Hemophilia B

D. Liang, Lingqian Wu, Qiyu Tang, 2023, International journal of molecular sciences.

Investigation of hrDNA targeting vector-mediated tumor-specific suicide gene therapy for hepatocellular carcinoma

K. Xia, Q. Pan, D. Liang, 2006 .

A minidystrophin-EGFP fusion gene expressed in Cos-7 cells mediated by human source vector.

K. Xia, Q. Pan, D. Liang, 2005, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

A ZRS duplication causes syndactyly type IV with tibial hypoplasia

Daisuke Sato, N. Niikawa, K. Yoshiura, 2009, American journal of medical genetics. Part A.

Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis

D. Liang, Zhuo Li, Lingqian Wu, 2018, Eye.

A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature

D. Liang, Zhuo Li, Lingqian Wu, 2023, Frontiers in pediatrics.

Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII.

Q. Pan, D. Liang, Lingqian Wu, 2017, Clinica chimica acta; international journal of clinical chemistry.

[Growing of human embryonic stem cells on feeders derived from themselves].

Qiao Zeng, K. Xia, Q. Pan, 2009, Yi chuan = Hereditas.

REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis

Feng Tian, Yu Zhang, Desheng Liang, 2020, Molecular genetics & genomic medicine.

[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II].

D. Liang, J. Xue, Ling-Qian Wu, 2009, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[Clinical practice guidelines for Duchenne muscular dystrophy].

D. Liang, Lingqian Wu, H. Tan, 2020, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Biochemical and genetic characteristics of 40 neonates with carnitine deficiency.

D. Liang, Zhuo Li, Lingqian Wu, 2020, Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences.

Molecular cytogenetic analysis of early spontaneous abortions conceived from varying assisted reproductive technology procedures

D. Liang, Biao Yin, Desheng Liang, 2016, Molecular Cytogenetics.

[Rapid prenatal diagnosis of chromosome aneuploidies in 60 uncultured amniotic fluid samples by fluorescence in situ hybridization].

D. Liang, H. Dai, Zhigao Long, 2008, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus

D. Liang, J. Xue, Lingqian Wu, 2011, Molecular vision.

A syndactyly type IV locus maps to 7q36

Daisuke Sato, N. Niikawa, K. Yoshiura, 2007, Journal of Human Genetics.

Identification of the alternative promoters of the KChIP4 subfamily.

K. Xia, Q. Pan, D. Liang, 2005, Acta biochimica et biophysica Sinica.

Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.

D. Liang, Lingqian Wu, Aiping Mao, 2022, Clinical Chemistry.

TALE nickase mediates high efficient targeted transgene integration at the human multi-copy ribosomal DNA locus.

Desheng Liang, Zhiqing Hu, Lingqian Wu, 2014, Biochemical and biophysical research communications.

[Mapping of pathogenic genes in two families with autosomal dominant ichthyosis vulgaris].

K. Xia, Q. Pan, D. Liang, 2008, Yi chuan = Hereditas.

Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p.

N. Niikawa, D. Liang, Lingqian Wu, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Yiping Shen, Linlin M Chen, D. Liang, 2021, Human mutation.

Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.

D. Liang, Zhuo Li, Lingqian Wu, 2018, International heart journal.

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

D. Liang, Lingqian Wu, N. Gai, 2017, Clinica chimica acta; international journal of clinical chemistry.

Mutation in PITX2 is associated with ring dermoid of the cornea

K. Xia, Q. Pan, D. Liang, 2004, Journal of Medical Genetics.

A patient with apparently reciprocal translocation and cryptic 10p deletion

D. Liang, Lingqian Wu, W. Lv, 2011, American journal of medical genetics. Part A.