Q. Tian

发表

New ZNF644 mutations identified in patients with high myopia

K. Xia, L. Xia, Hui Guo, 2014, Molecular vision.

Short Communication Activating c-kit Gene Mutations in Human Germ Cell Tumors

C. Moskaluk, H. Frierson, G. Krystal, 1999 .

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Z. Ou, P. Stankiewicz, B. Dawson, 2012, European Journal of Human Genetics.

Homozygous loss‐of‐function mutation of the LEPREL1 gene causes severe non‐syndromic high myopia with early‐onset cataract

Y. Zheng, K. Xia, Q. Pan, 2014, Clinical genetics.

[A study on K469E polymorphism of ICAM1 gene and ICAM1 plasma level in patients with coronary heart disease].

Q. Shang, Q. Tian, G. Su, 2006, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis

X. Liu, S. Blanton, Zhengmao Hu, 2019, Genetics in Medicine.

Activating c-kit gene mutations in human germ cell tumors.

C. Moskaluk, H. Frierson, G. Krystal, 1999, The American journal of pathology.

Novel mutation of EDA causes new asymmetrical X‐linked hypohidrotic ectodermal dysplasia phenotypes in a female

K. Xia, Hui Guo, Zhengmao Hu, 2019, The Journal of dermatology.

Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort

Liangdan Sun, Xuejun Zhang, Jingping Zhao, 2017, Scientific Reports.

SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis

K. Xia, L. Xia, Hui Guo, 2021, Journal of cellular and molecular medicine.

SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia

Liangdan Sun, Xuejun Zhang, K. Xia, 2014, Journal of Medical Genetics.

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

K. Xia, Q. Pan, Hui Guo, 2017, BMC Medical Genetics.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Gao T. Wang, Mahshid S. Azamian, M. Hurles, 2013, American journal of human genetics.

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

K. Xia, B. Peterlin, R. Maroofian, 2020, Human Genetics.

Mutations of c-kit JM domain are found in a minority of human gastrointestinal stromal tumors

C. Marshall, C. Moskaluk, C. Rumpel, 1999, Oncogene.

GLRA2 gene mutations cause high myopia in humans and mice

K. Xia, Zhengmao Hu, Meichun Deng, 2022, Journal of Medical Genetics.

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia

Y. Li, K. Xia, Q. Pan, 2015, Genetics in Medicine.

Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient

Jian Wang, G. Ling, Zhiping Tan, 2018, BMC Medical Genetics.

[Analysis of CSF1R gene mutation in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids].

Lu Shen, Xiao-hua Gu, H. Zou, 2015, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

CCDC66 mutations are associated with high myopia through affected cell mitosis

Zhikuan Yang, P. Tong, Q. Tian, 2023, Journal of Medical Genetics.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.