Q. Lin

发表

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

Jianguo Zhang, Hankui Liu, Xue Gao, 2019, European Journal of Human Genetics.

Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss

L. Lan, J. Guan, Lan Yu, 2018, Scientific Reports.

Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss

L. Guan, Xue Gao, Guo-jian Wang, 2018, Journal of Medical Genetics.

Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing.

H. Xu, H. Deng, W. Xiong, 2016, QJM : monthly journal of the Association of Physicians.

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

L. Lan, J. Guan, Lan Yu, 2017, Chinese medical journal.

Identified OAS3 gene variants associated with coexistence of HBsAg and anti‐HBs in chronic HBV infection

S. O’Brien, D. Zhernakova, L. Guan, 2018, Journal of viral hepatitis.

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

Jianguo Zhang, Hankui Liu, Xue Gao, 2019, European Journal of Human Genetics.

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1

H. Deng, L. Guan, Wen Zheng, 2017, Journal of cellular and molecular medicine.

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

H. Deng, L. Guan, Zhi Song, 2016, PloS one.

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors

X. Zhuang, K. Chien, P. Gruber, 2021, JCI insight.

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

J. Belmont, R. Gatti, M. Conley, 1996, The Journal of clinical investigation.

Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.

Huanming Yang, Hankui Liu, Sohail Ahmad, 2017, Annals of clinical and laboratory science.

Artificial intelligence-based approaches for the detection and prioritization of genomic mutations in congenital surgical diseases

P. Tam, C. S. Tang, Q. Lin, 2023, Frontiers in pediatrics.

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.

Quan-yong He, H. Deng, L. Guan, 2017, Molecular medicine reports.