Qiongfen Lin

发表

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.

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.

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.

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.

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.

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

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

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.

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.

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.