Yaping Liu

发表

Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

X. Tian, Kaifeng Xu, Xue Zhang, 2019, Orphanet Journal of Rare Diseases.

Clinical and Angiographic Features of Patients with Moyamoya Disease and the p.R4810K Heterozygous Variant.

Qian Zhang, Rong Wang, Ji-zong Zhao, 2016, World neurosurgery.

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies

Shuyang Zhang, Xue Zhang, Wei Wu, 2018, Journal of Translational Medicine.

Clinical Features and Long-Term Outcomes of Unilateral Moyamoya Disease.

Qian Zhang, Rong Wang, Ji-zong Zhao, 2016, World neurosurgery.

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.

Wei Wu, Shuyang Zhang, Xue Zhang, 2017, Clinica chimica acta; international journal of clinical chemistry.

Characterization of CT scans of patients with Birt-Hogg-Dubé syndrome compared with those of Chinese patients with non-BHD diffuse cyst lung diseases

X. Tian, Kaifeng Xu, R. Feng, 2020, Orphanet Journal of Rare Diseases.

A Mutation in VWA1, Encoding von Willebrand Factor A Domain-Containing Protein 1, Is Associated With Hemifacial Microsomia

Shuyang Zhang, B. Zhang, X. Luan, 2020, Frontiers in Cell and Developmental Biology.

Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases

X. Tian, Kaifeng Xu, Keqiang Liu, 2022, International journal of general medicine.

Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib

Xue Zhang, Jiaxing Song, Yaping Liu, 2021, Pediatric Rheumatology.

Gene mutations in sporadic lymphangioleiomyomatosis and genotype–phenotype correlation analysis

Weihong Zhang, X. Tian, Kaifeng Xu, 2022, BMC Pulmonary Medicine.

Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.

Y. Huang, W. Guan, N. Zhong, 2018, Journal of thoracic disease.

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

X. Tian, Kaifeng Xu, Xue Zhang, 2020, Orphanet Journal of Rare Diseases.

Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like mouse model leads to a markedly increased IL-36a and Sprr2 expression

Xue Zhang, Rongrong Wang, Nuo Si, 2019, Frontiers of Medicine.

Novel TRPM6 Mutations in Familial Hypomagnesemia with Secondary Hypocalcemia

X. Xing, W. Xia, Yan Jiang, 2013, American Journal of Nephrology.

Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients

X. Tian, Kaifeng Xu, Xue Zhang, 2015, Respirology.

Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia

X. Tian, Kaifeng Xu, Shuying Zheng, 2021, Frontiers of Medicine.

A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update

Qianli Zhang, Yaping Liu, Yue-hua Liu, 2022, Frontiers in Genetics.

Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.

Jie Liu, D. Ma, Xue Zhang, 2014, Journal of dermatological science.

The Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease and a Review of the Pertinent Literature.

Xue Zhang, Qian Zhang, Rong Wang, 2017, World neurosurgery.

A Novel Nonsense Mutation in the MIP Gene Linked to Congenital Posterior Polar Cataracts in a Chinese Family

Yaping Liu, Lianqing Wang, Z. Song, 2015, PloS one.

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

X. Tian, Kaifeng Xu, Xue Zhang, 2021, Orphanet Journal of Rare Diseases.

Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases

X. Tian, Kaifeng Xu, Xue Zhang, 2018, Orphanet Journal of Rare Diseases.

p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis

X. Tian, Kaifeng Xu, Xue Zhang, 2016, Human Genome Variation.

Hereditary angioedema: a Chinese perspective

Y. Zhi, Yaping Liu, Shuang Liu, 2019, European Journal of Dermatology.

RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance.

Lanbing Yu, Xue Zhang, Qian Zhang, 2017, Journal of neurosurgery.

RNF 213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance

Lanbing Yu, Xue Zhang, Qian Zhang, 2022 .

Generalized Hailey–Hailey disease: Novel splice‐site mutations of ATP2C1 gene in Chinese population and a literature review

Qianli Zhang, Yaping Liu, Shiyu Zhang, 2020, Molecular genetics & genomic medicine.

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease

Shuyang Zhang, Xue Zhang, Wei Wu, 2019, Science China Life Sciences.

SF3A1 and pancreatic cancer: new evidence for the association of the spliceosome and cancer

X. Miao, N. Shen, R. Zhong, 2015, Oncotarget.

Novel mutation c.1210-3C > G in cis with a poly-T tract of 5T affects CFTR mRNA splicing in a Chinese patient with cystic fibrosis

X. Tian, Kaifeng Xu, Xue Zhang, 2020, Frontiers of Medicine.

The genomic landscape of Cronkhite–Canada syndrome: Possible clues for pathogenesis

Jingnan Li, Weixun Zhou, Y. You, 2022, Journal of digestive diseases.

Identification of sequence variants associated with severe microtia-astresia by targeted sequencing

Shuyang Zhang, Chongjian Chen, Pu Wang, 2019, BMC Medical Genomics.

Identification of sequence variants associated with severe microtia-astresia by targeted sequencing

Shuyang Zhang, Chongjian Chen, Pu Wang, 2019, BMC Medical Genomics.

A novel homozygous complex deletion in CFTR caused cystic fibrosis in a Chinese patient

X. Tian, Kaifeng Xu, Xue Zhang, 2017, Molecular Genetics and Genomics.

Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia.

Shuyang Zhang, Pu Wang, Yaping Liu, 2017, OncoTarget.

X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2

C. Lian, Yongwei Wang, Guangjun Nie, 2020, Annals of Translational Medicine.

X-linked dominant protoporphyria: report of a pedigree and detection of ALAS2 gene mutations

Hongbing Zhang, Rongrong Chen, Chunjia Li, 2016 .

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

Weihong Zhang, X. Tian, Kaifeng Xu, 2017, Orphanet Journal of Rare Diseases.

Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome.

Xue Zhang, Qian Zhang, Rong Wang, 2017, Gene.

Novel mutation c.1210-3C > G in cis with a poly-T tract of 5T affects CFTR mRNA splicing in a Chinese patient with cystic fibrosis

X. Tian, Kaifeng Xu, Xue Zhang, 2021, Frontiers of Medicine.

Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients

X. Tian, Kaifeng Xu, Xue Zhang, 2015, Respirology.

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.

Wei Wu, Shuyang Zhang, Xue Zhang, 2017, Clinica chimica acta; international journal of clinical chemistry.

Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients

Haiwen Ge, X. Tian, Junping Fan, 2023, Frontiers of medicine.

Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.

Jie Liu, D. Ma, Yaping Liu, 2014, Journal of dermatological science.