Mucus dispersal by Dithiothreitol (DTT) reduces ciliary dyskinesiaEUROPEAN RESPIRATORY JOURNALIF212024-10-300PRE
Single-cell guided prenatal derivation of primary fetal epithelial organoids from human amniotic and tracheal fluidsNATURE MEDICINEIF502024-03-045OA
Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.EUROPEAN RESPIRATORY JOURNALIF212023-10-270OA
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersSCIENTIFIC REPORTSIF3.92021-10-1843OAAI
Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factorPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICAIF9.12021-07-086OA
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesiaEUROPEAN RESPIRATORY JOURNALIF212021-04-0115OAAI
A Revised Protocol for Culture of Airway Epithelial Cells as a Diagnostic Tool for Primary Ciliary DyskinesiaJOURNAL OF CLINICAL MEDICINEIF2.92020-11-2128OAAI
Primary ciliary dyskinesia and non-CF bronchiectasis ProjectEUROPEAN RESPIRATORY JOURNALIF212020-10-280PRE
Late Diagnosis of Infants with PCD and Neonatal Respiratory DistressJOURNAL OF CLINICAL MEDICINEIF2.92020-09-0418OAAI
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutationNEUROLOGY-GENETICSIF3.72020-08-0133OAAI
International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria)EUROPEAN RESPIRATORY JOURNALIF212020-02-1479OAAI
The Controversies and Difficulties of Diagnosing Primary Ciliary DyskinesiaAMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINEIF19.42020-01-0111OAAI
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohortJOURNAL OF MEDICAL GENETICSIF3.72019-12-2563OAAI
International consensus guideline for reporting transmission electron microscopy results in the diagnosis of Primary Ciliary DyskinesiaEUROPEAN RESPIRATORY JOURNALIF212019-11-212PRE
Errors in Methodology Affect Diagnostic Accuracy of High-Speed Videomicroscopy Analysis in Primary Ciliary Dyskinesia ResponseCHESTIF8.62019-11-014PREAI
Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary DyskinesiaCHESTIF8.62019-05-0164OAAI
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs InversusAMERICAN JOURNAL OF HUMAN GENETICSIF8.12018-12-0192OAAI
Clinical features & management of 334 children with primary ciliary dyskinesia in the English National CohortEUROPEAN RESPIRATORY JOURNALIF212018-11-190PRE
Motile cilia structure and function in patients with mutations in the outer dynein arm heavy chain DNAH9EUROPEAN RESPIRATORY JOURNALIF212018-11-190PRE
Accuracy of high-speed video microscopy to diagnose primary ciliary dyskinesiaEUROPEAN RESPIRATORY JOURNALIF212018-11-190PRE
个人简介
教育背景
工作经历
荣誉奖项
未登录.png){kind=icon}
未登录个人简介教育背景工作经历荣誉奖项
研究方向