日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Mucociliary and cough clearance in primary ciliary dyskinesia as affected by mutations in RSPH1 or DNAH5

RSPH1 或 DNAH5 基因突变影响原发性纤毛运动障碍的粘液纤毛清除和咳嗽功能

期刊:Erj Open Research
影响因子:4
doi:10.1183/23120541.00681-2025
Ostrowski, Lawrence E; Abu-Nasser, Sara; Zeman, Kirby L; Leigh, Margaret W; Zariwala, Maimoona A; Olivier, Kenneth N; Ferkol, Thomas W; Taylor, Corinne N; Ceppe, Agathe S; Knowles, Michael R; Bennett, William D
发表日期：2026
文献求助 收藏

European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia

欧洲呼吸学会和美国胸科学会关于原发性纤毛运动障碍诊断的指南

期刊:European Respiratory Journal
影响因子:21
doi:10.1183/13993003.00745-2025
Shoemark, Amelia; Goutaki, Myrofora; Kinghorn, BreAnna; Ardura-Garcia, Cristina; Baz-Redón, Noelia; Chilvers, Mark; Davis, Stephanie D; De Brandt, Jana; Dell, Sharon; Dhar, Raja; Dixon, Lucy; Ferkol, Thomas; Hogg, Claire; Legendre, Marie; Leigh, Margaret; Lucas, Jane S; Manion, Michele; Rumman, Nisreen; Toews, Ingrid; Labonte, Valerie; Wee, Wallace B; Kouis, Panayiotis; Horani, Amjad
发表日期：2025
文献求助 收藏

ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec

ODAD4相关原发性纤毛运动障碍：魁北克省五例病例及一个创始变异体的报告

期刊:Cells
影响因子:5.2
doi:10.3390/cells14181460
Bourassa, Marie-Hélène; Sillon, Guillaume; Ding, Shuizi; Chioccioli, Maurizio; Lek, Monkol; Ma, Kaiyue; Mejia-Garcia, Alejandro; Gravel, Simon; Vinh, Donald C; Knowles, Michael R; Leigh, Margaret W; Davis, Stephanie D; Ferkol, Thomas; Olivier, Kenneth N; Schecterman, Elizabeth N; Yin, Weining; Sears, Patrick R; Gentzsch, Martina; Boyles, Susan E; Bennett, William D; Zeman, Kirby L; Ostrowski, Lawrence E; Zariwala, Maimoona A; Shapiro, Adam J
发表日期：2025
文献求助 收藏

Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome

原发性纤毛运动障碍或活化磷脂酰肌醇3-激酶δ综合征患者的重叠临床表型

期刊:Journal of Pediatrics
影响因子:3.5
doi:10.1016/j.jpeds.2025.114499
Shapiro, Adam J; Wu, Eveline Y; Morris-Rosendahl, Deborah J; Olivier, Kenneth N; Dell, Sharon D; Sagel, Scott D; Dutmer, Cullen M; Mosquera, Ricardo A; Rose, Markus; O'Connor, Michael G; Ma, Chi A; Uzel, Gulbu; Vece, Timothy J; Zariwala, Maimoona A; Knowles, Michael R; Leigh, Margaret W; Davis, Stephanie D; Ferkol, Thomas W
信号转导
发表日期：2025
文献求助 收藏

Primary ciliary dyskinesia phenotypes and correlation with genotype

原发性纤毛运动障碍表型及其与基因型的相关性

期刊:Current Opinion in Pulmonary Medicine
影响因子:2.8
doi:10.1097/MCP.0000000000001212
Horani, Amjad; Wee, Wallace; Omran, Heymut; Ferkol, Thomas
发表日期：2025
文献求助 收藏

New Treatments Are Urgently Needed for Patients With All Primary Ciliary Dyskinesia Genotypes

迫切需要针对所有原发性纤毛运动障碍基因型患者开发新的治疗方法

期刊:Pediatric Pulmonology
影响因子:2.3
doi:10.1002/ppul.71372
Gaston, Benjamin; Horani, Amjad; Davis, Stephanie; Ferkol, Thomas; Kinghorn, BreAnna; Rosenfeld, Margaret; Shapiro, Adam; Machogu, Evans; O'Connor, Michael; Holme, Harriet; Manion, Michele
发表日期：2025
文献求助 收藏

The Association of Neonatal Respiratory Distress With Ciliary Ultrastructure and Genotype in Primary Ciliary Dyskinesia

新生儿呼吸窘迫与原发性纤毛运动障碍的纤毛超微结构和基因型之间的关联

期刊:Pediatric Pulmonology
影响因子:2.3
doi:10.1002/ppul.71091
Barber, Andrew T; Davis, Stephanie D; Ferkol, Thomas W; Shapiro, Adam J; Atkinson, Jeff; Sagel, Scott D; Dell, Sharon D; Olivier, Kenneth; Milla, Carlos; Rosenfeld, Margaret; Li, Lang; Lin, Feng-Chang; Sullivan, Kelli M; Capps, Nicole A; Zariwala, Maimoona A; Knowles, Michael R; Leigh, Margaret W
发表日期：2025
文献求助 收藏

Therapies Used by Children With Primary Ciliary Dyskinesia: A Natural History Study

原发性纤毛运动障碍患儿所用疗法：一项自然史研究

期刊:Pediatric Pulmonology
影响因子:2.3
doi:10.1002/ppul.27412
Gardner, Robert A; Ferkol, Thomas W; Davis, Stephanie D; Rosenfeld, Margaret; Sagel, Scott D; Dell, Sharon D; Milla, Carlos E; Li, Lang; Lin, Feng-Chang; Sullivan, Kelli M; Zariwala, Maimoona A; Knowles, Michael R; Leigh, Margaret W
发表日期：2025
文献求助 收藏

Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia

启动子缺失导致原发性纤毛运动障碍病例中等位基因特异性表达，该病例的遗传病因尚未明确

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63880
Beaman, M Makenzie; Yin, Weining; Smith, Amanda J; Sears, Patrick R; Leigh, Margaret W; Ferkol, Thomas W; Kearney, Brendan; Olivier, Kenneth N; Kimple, Adam J; Clarke, Shannon; Huggins, Erin; Nading, Erica; Jung, Seung-Hye; Iyengar, Apoorva K; Zou, Xue; Dang, Hong; Barrera, Alejandro; Majoros, William H; Rehder, Catherine W; Reddy, Timothy E; Ostrowski, Lawrence E; Allen, Andrew S; Knowles, Michael R; Zariwala, Maimoona A; Crawford, Gregory E
发表日期：2025
文献求助 收藏

Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood

儿童期原发性纤毛运动障碍耳鼻症状的进展

期刊:OTO Open
影响因子:1.5
doi:10.1002/oto2.70079
Dagher, Isabelle; Kimple, Adam J; Ferkol, Thomas W; Sagel, Scott D; Dell, Sharon D; Milla, Carlos E; Li, Lang; Lin, Feng-Chang; Sullivan, Kelli M; Zariwala, Maimoona A; Knowles, Michael R; Rosenfeld, Margaret; Leigh, Margaret W; Davis, Stephanie D
发表日期：2025
文献求助 收藏