Publications by authors named "Michael Knowles"

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Airway Disease Progression on Chest Computed Tomography in Children With Primary Ciliary Dyskinesia.
BreAnna Kinghorn, Federico Mollica, Daan Caudri, Stephanie D Davis, Sharon Dell, Michael R Knowles

Pediatr Pulmonol· September 2025

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ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec.
Marie-Hélène Bourassa, Guillaume Sillon, Shuizi Ding, Maurizio Chioccioli, Monkol Lek, Michael R Knowles

Cells· September 2025

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Modifies Chronic Airway Infection Risk in Cystic Fibrosis.
Anna V Faino, William W Gordon, Kati Buckingham, Adrienne M Stilp, Rhonda G Pace, Michael K Knowles

Ann Am Thorac Soc· May 2025

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Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome.
Adam J Shapiro, Eveline Y Wu, Deborah J Morris-Rosendahl, Kenneth N Olivier, Sharon D Dell, Michael R Knowles

J Pediatr· May 2025

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The Association of Neonatal Respiratory Distress With Ciliary Ultrastructure and Genotype in Primary Ciliary Dyskinesia.
Andrew T Barber, Stephanie D Davis, Thomas W Ferkol, Adam J Shapiro, Jeff Atkinson, Michael R Knowles

Pediatr Pulmonol· May 2025

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Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.
M Makenzie Beaman, Weining Yin, Amanda J Smith, Patrick R Sears, Margaret W Leigh, Michael R Knowles

Am J Med Genet A· February 2025

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Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood.
Isabelle Dagher, Adam J Kimple, Thomas W Ferkol, Scott D Sagel, Sharon D Dell, Michael R Knowles

OTO Open· February 2025

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Therapies Used by Children With Primary Ciliary Dyskinesia: A Natural History Study.
Robert A Gardner, Thomas W Ferkol, Stephanie D Davis, Margaret Rosenfeld, Scott D Sagel, Michael R Knowles

Pediatr Pulmonol· January 2025

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Long G4-rich enhancers target promoters via a G4 DNA-based mechanism.
Jeffrey D DeMeis, Justin T Roberts, Haley A Delcher, Noel L Godang, Alexander B Coley, Michael R Knowles

Nucleic Acids Res· January 2025

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Olfactory Dysfunction in Primary Ciliary Dyskinesia.
Zainab Farzal, Kelli M Sullivan, Maimoona A Zariwala, Brian D Thorp, Brent A Senior, Michael R Knowles

OTO Open· January 2025

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Comparison of Longitudinal Outcomes in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis.
BreAnna Kinghorn, Margaret Rosenfeld, Erin Sullivan, Frankline M Onchiri, Marshall D Brown, Michael R Knowles

Ann Am Thorac Soc· December 2024

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Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Jaclyn R Stonebraker, Rhonda G Pace, Paul J Gallins, Hong Dang, Melis A Aksit, Michael R Knowles

Hepatology· November 2024

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Genetic modifiers of body mass index in individuals with cystic fibrosis.
Hua Ling, Karen S Raraigh, Elizabeth W Pugh, Melis A Aksit, Peng Zhang, Michael R Knowles

Am J Hum Genet· October 2024

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Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Gerard W Dougherty, Lawrence E Ostrowski, Tabea Nöthe-Menchen, Johanna Raidt, Andre Schramm, Michael R Knowles

Am J Respir Crit Care Med· July 2024

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The clinical utility of sequencing the entirety of CFTR.
Molly B Sheridan, Melis A Aksit, Kymberleigh Pagel, Kurt Hetrick, Hannah Shultz-Lutwyche, Michael R Knowles

J Cyst Fibros· July 2024

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Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia.
Kimberley R Kaspy, Sharon D Dell, Stephanie D Davis, Thomas W Ferkol, Margaret Rosenfeld, Michael R Knowles

Chest· May 2024

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MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric.
Quan Sun, Yingxi Yang, Jonathan D Rosen, Jiawen Chen, Xihao Li, Michael R Knowles

Am J Hum Genet· May 2024

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Michael R Knowles

Science· April 2024

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Decoding negative genetic panels in primary ciliary dyskinesia.
Robert A Gardner, Scott D Sagel, Michael R Knowles, Thomas W Ferkol, Stephanie D Davis

Pediatr Pulmonol· March 2024

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Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
Felix C Ringshausen, Adam J Shapiro, Kim G Nielsen, Henryk Mazurek, Massimo Pifferi, Michael R Knowles

Lancet Respir Med· January 2024

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First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.
Julia Hunter-Schouela, Michael T Geraghty, Robert A Hegele, David A Dyment, David St Pierre, Michael R Knowles

Pediatr Pulmonol· July 2023

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Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Yi-Hui Zhou, Paul J Gallins, Rhonda G Pace, Hong Dang, Melis A Aksit, Michael R Knowles

Am J Respir Crit Care Med· May 2023

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Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.
BreAnna Kinghorn, Margaret Rosenfeld, Erin Sullivan, Frankline Onchiri, Thomas W Ferkol, Michael R Knowles

Ann Am Thorac Soc· April 2023

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Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype.
Andrew T Barber, Adam J Shapiro, Stephanie D Davis, Thomas W Ferkol, Jeffrey J Atkinson, Michael R Knowles

Ann Am Thorac Soc· March 2023

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Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.
Melis A Aksit, Hua Ling, Rhonda G Pace, Karen S Raraigh, Frankline Onchiri, Michael R Knowles

Am J Hum Genet· October 2022

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