H. Tan

发表

Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases

Zhuo Li, Lingqian Wu, Jianyan Pan, 2019, Medical science monitor : international medical journal of experimental and clinical research.

Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome

C. Chen, Q. Pan, D. Liang, 2016, BMC Medical Genetics.

Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes

F. Yu, D. Liang, D. Cram, 2019, Genetics in Medicine.

Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases

D. Liang, Lingqian Wu, Yongyi Zou, 2017, Journal of Human Genetics.

Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.

C. Chen, Q. Pan, D. Liang, 2015, Gene.

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.

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report

D. Liang, Lingqian Wu, Haoxian Li, 2017, Familial Cancer.

Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.

Q. Pan, D. Liang, Lingqian Wu, 2015, Gene.

A novel GJB1 mutation associated with X‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree

D. Liang, J. Xue, Zhuo Li, 2020, Molecular genetics & genomic medicine.

The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability.

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

Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data

D. Liang, Lingqian Wu, L. Mei, 2017, Journal of Genetic Counseling.

Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report

Lingqian Wu, W. Lv, H. Tan, 2019, Molecular medicine reports.

Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

B. Lorenz, P. D. de Jong, A. Plomp, 2007, Molecular vision.

Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes

F. Yu, D. Liang, D. Cram, 2019, Genetics in Medicine.

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.

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.

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

K. Dou, Xue Zhang, Ya-xin Liu, 2019, Chinese medical journal.

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.

TSPYL1 regulates steroidogenic gene expression and male factor fertility in mice.

Cheuk-Lun Lee, Kai-Fai Lee, Lei Peng, 2020, F&S science.

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.

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.

Molecular genetic study of 59 Chinese Oculocutaneous albinism families.

Zhuo Li, Lingqian Wu, D. Luo, 2019, European journal of medical genetics.

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.

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.

[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.

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.