Improving variant interpretation and diagnosis in Koolen-de Vries syndrome through a curated genotype–phenotype repository
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Hailin Huang
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China
raw_author_name: Jia Geng
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China
raw_author_name: Yang Long
raw_affiliation_strings: Department of Gynecology and Obstetrics, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China
raw_author_name: Wenyu Xiong
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China
raw_author_name: Xiaolu Wang
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China
raw_author_name: Chao Wang
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China
raw_author_name: Qian Zhang
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China
raw_author_name: Ting Tang
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China
raw_author_name: Yuxin Chen
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China
raw_author_name: Yu Zhao
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China
raw_author_name: Jing Cheng
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China
raw_author_name: Yu Lu
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China. luyu@wchscu.cn
raw_author_name: Fengxiao Bu
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China. bufengxiao@wchscu.cn
raw_author_name: Huijun Yuan
raw_affiliation_strings: Department of Otolaryngology-Head & Neck Surgery, Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, China. yuanhj301@163.com