LINC00461 SNPs rs933647 and rs201864123 modify the risk of adenoid hypertrophy susceptibility for children in South China

in Genetics of Common and Rare Diseases

Arteriovenous Cerebral High Flow Shunts: genetic analysis of patients from a pediatric tertiary care center

in Genetics of Common and Rare Diseases

• Ferruccio Romano
• Patrizia De Marco
• Giulia Amico
• Marisa Mallamaci
• Marco Pavanello
• Gianluca Piatelli
• Marcello Scala
• Federico Zara
• Francesca Faravelli
• Mariasavina Severino

Case Report: area of focus Clinical Presentation and KMT2D Gene Mutation at the c.15535C>T Site in a Case of Kabuki Syndrome

in Genetics of Common and Rare Diseases

• Wen Li
• Mengjie Lin
• Jinwei Dao
• Li Shi
• Wei Yi
• Jia Lei
• Yaxian Song
• Jiaolou Dong
• Meiwei Zhao
• Xu Yushan

Detection of a novel large fragment deletion in the alpha-globin gene cluster using CNVplex technology

in Genetics of Common and Rare Diseases

• Jianfei Xu
• Liang Hu
• Lijuan Wen
• Xianzhen Cao
• Hongyan Xu
• Qi Luo
• Yuhong Long
• Jiting Yu
• Lifang Sun
• Fengxiang Wei

Novel Homozygous ACVRL1 Missense Variant in a Family with Hereditary Hemorrhagic Telangiectasia and Pulmonary Arterial Hypertension: Findings Suggesting a Hypomorphic Allele

in Genetics of Common and Rare Diseases

• Akash Mathavan
• Akshay Mathavan
• Urszula Krekora
• Adityanarayan Rao
• Marc S Zumberg
• Jeb Justice
• Pinar Bayrak-Toydemir
• Jamie McDonald
• Ali Ataya

Comprehensive systematic review and meta-analysis of the TGF-β1 T869C gene polymorphism and autoimmune disease susceptibility

in Genetics of Common and Rare Diseases

• Yawen Zhu
• Ai Qian
• Yuanyuan Cheng
• Ming Li
• Chuanbing Huang

A de novo TNNI3K Variant Aggravates the Pathogenic Transparent of DMD associated Early Onset Cardiomyopathy: A Case Report

in Genetics of Common and Rare Diseases

• Di Qie
• Yang Zhai
• Fan Yang
• Yifei Li
• Rong Xu

Identifying Pathological Myopia Associated Genes with GenePlexus in Protein-Protein Interaction network

in Genetics of Common and Rare Diseases

• Yuanyuan Luo
• Yihan Wang
• Lin Liu
• Feiming Huang
• Shiheng LU
• Yan Yan

Molecular Diagnosis and Preimplantation Genetic Testing for Chromosome 1q21.1 Recurrent Microduplication

in Genetics of Common and Rare Diseases

• Cuiting Peng
• Han Chen
• Fan Zhou
• Hong Yang
• Yutong Li
• Yuezhi Keqie
• Xu Zhao
• He Wang
• Ting Hu
• Shanling Liu

Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases

in Genetics of Common and Rare Diseases

• Xuejun Ouyang
• Yu Zhang
• Tian Yu
• Qian Zhang
• Lei Xu
• Victor, Wei Zhang
• Bin Wang

Case report: Inflammatory bowel disease in Hermansky-Pudlak Syndrome type 3 due to novel variant in HPS3

in Genetics of Common and Rare Diseases

• Jing Qun Mai
• Zhu Zhang
• Bo Cheng Mai
• Shanling Liu
• He Wang
• Hao Wang
• Shuo Yang

Association Between Single Nucleotide Polymorphisms in EPAS1 and PPARA Genes and high altitude polycythemia in Chinese Tibetan population

in Genetics of Common and Rare Diseases

• Ziyi Chen
• Zhaomei Dong
• Rong Zeng
• Mengna Xu
• Yuanyuan Zhang
• Qu Dan
• Guangming Wang

Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant in SETBP1: a case report and literature review

in Genetics of Common and Rare Diseases

• Zhuo Wei
• Liying Yao
• Lei Zhang
• Shanshan Li
• Meiyi Xu
• Dan Wu
• Ying Chang
• Wen Li

Experiences from Dual Genome Next-Generation Sequencing Panel Testing for Mitochondrial Disorders: A Comprehensive Molecular Diagnosis

in Genetics of Common and Rare Diseases

• Elizabeth Gorman
• Hongzheng Dai
• Yanming Feng
• William Craigen
• David C.Y. Chen
• Fan Xia
• Pengfei Liu
• Robert Rigobello
• Arpita Neogi
• Linyan Meng