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BMJ Open|October 1, 2025
Co-designing, evaluating and implementing online supportive care for endometriosis in Australia: study protocol for the hybrid type 1 effectiveness, cost-effectiveness and implementation randomised controlled trial of the CodeEndo programAntonina Mikocka-Walus, Colette Naude, Yao Coitinho Biurra, et al.American Journal of Respiratory and Critical Care Medicine|April 16, 2024
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and BronchiectasisGerard W Dougherty, Lawrence E Ostrowski, Tabea Nöthe-Menchen, et al.American Journal of Respiratory and Critical Care Medicine|February 27, 2014
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotypeMichael R Knowles, Lawrence E Ostrowski, Margaret W Leigh, et al.Nature Genetics|July 23, 2013
DYX1C1 is required for axonemal dynein assembly and ciliary motilityAarti Tarkar, Niki T Loges, Christopher E Slagle, et al.American Journal of Human Genetics|September 24, 2013
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein armsMichael R Knowles, Lawrence E Ostrowski, Niki T Loges, et al.American Journal of Human Genetics|October 8, 2013
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary DyskinesiaChristina Austin-Tse, Jan Halbritter, Maimoona A Zariwala, et al.American Journal of Human Genetics|July 30, 2013
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Maimoona A Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, et al.Science (New York, N.Y.)|April 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubulesDaniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, et al.Pageof 78