Explanipedia

MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric Open

Quan Sun, Yingxi Yang, Jonathan D. Rosen, Jiawen Chen, Xihao Li , et al. · 2025

Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis Open

Melis A. Aksit, Hua Ling, Rhonda G. Pace, Karen S. Raraigh, Frankline Onchiri , et al. · 2025

Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients Open

Quan Sun, Weifang Liu, Jonathan D. Rosen, Le Huang, Rhonda G. Pace , et al. · 2025

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

M. Makenzie Beaman, Weining Yin, Amanda Smith, Patrick R. Sears, Margaret W. Leigh , et al. · 2025

Variation in the non-coding genome represents an understudied mechanism of disease and it remains challenging to predict if single nucleotide variants, small insertions and deletions, or structural variants in non-coding genomic regions wi…

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

Marie-Hélène Bourassa, Guillaume Sillon, Shuizi Ding, Maurizio Chioccioli, Monkol Lek , et al. · 2025

Pathogenic variants in ODAD4 are an ultra-rare cause of primary ciliary dyskinesia (PCD). Previously reported cases display classic disease phenotypes, including chronic oto-sino-pulmonary disease and development of bronchiectasis by adult…

Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance Open

Raghu R. Chivukula, Daniel T. Montoro, Hui Min Leung, Jason Yang, Hanan E. Shamseldin , et al. · 2025

MagicalRsq: Machine-learning-based genotype imputation quality calibration Open

Yingxi Yang, Min-Zhi Jiang, Jiawen Chen, Weifang Liu, Jia Wen , et al. · 2025

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

Andrew T. Barber, Stephanie D. Davis, Thomas W. Ferkol, Adam J. Shapiro, Jeffrey J. Atkinson , et al. · 2025

Objective To evaluate the relationship between ciliary ultrastructure/genotype and prevalence of neonatal respiratory distress (NRD) in primary ciliary dyskinesia (PCD). Study Design This was a retrospective analysis from a multicenter, pr…

Long G4-rich enhancers target promoters via a G4 DNA-based mechanism Open

Glen M. Borchert, Jeffrey D. DeMeis, Justin T. Roberts, Haley A Delcher, Noel L Godang , et al. · 2025

Several studies have now described instances where G-rich sequences in promoters and enhancers regulate gene expression through forming G-quadruplex (G4) structures. Relatedly, our group recently identified 301 long genomic stretches signi…

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

Adam J. Shapiro, Eveline Y. Wu, Déborah Morris-Rosendahl, Kenneth N. Olivier, Sharon Dell , et al. · 2025

Primary ciliary dyskinesia and activated phosphoinositide 3-kinase delta syndrome type 1 present similarly, with recurrent respiratory infections and reduced nasal nitric oxide levels. When diagnostic confirmation of primary ciliary dyskin…

Olfactory Dysfunction in Primary Ciliary Dyskinesia Open

Zainab Farzal, Kelli M. Sullivan, Maimoona A. Zariwala, Brian D. Thorp, Brent A. Senior , et al. · 2025

Objective Individuals with primary ciliary dyskinesia (PCD) frequently report olfactory dysfunction, yet this deficit is poorly documented. The purpose of this study was to characterize the presence and degree of olfactory dysfunction in P…

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

Isabelle A. Dagher, Adam J. Kimple, Thomas W. Ferkol, Scott D. Sagel, Sharon Dell , et al. · 2025

Objective Primary ciliary dyskinesia (PCD) is characterized by upper and lower airway disease. Multiple studies have demonstrated the progression of pulmonary disease; however, longitudinal changes in the otologic and nasal symptoms have n…

Long G4-rich enhancers target promoters via a G4 DNA-based mechanism Open

Jeffrey D. DeMeis, Justin T. Roberts, Haley A Delcher, Noel L Godang, Alexander B. Coley , et al. · 2024

Several studies have now described instances where G-rich sequences in promoters and enhancers regulate gene expression through forming G-quadruplex (G4) structures. Relatedly, our group recently identified 301 long genomic stretches signi…

Comparison of Longitudinal Outcomes in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis Open

BreAnna Kinghorn, Margaret Rosenfeld, Erin Sullivan, Frankline Onchiri, Marshall Brown , et al. · 2024

Rationale: Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are both genetic diseases of mucociliary clearance resulting in progressive lung disease with onset in early life. PCD is often considered to be milder than CF in …

Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits Open

Briana Vecchio-Pagán, Scott M. Blackman, Melissa Lee, Melis Atalar, Matthew J. Pellicore , et al. · 2024

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules Open

Daniel O Dodd, Sabrina Méchaussier, Patricia L. Yeyati, Fraser McPhie, Jacob R. Anderson , et al. · 2024

Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct isotypes form cell type– and context-specific microtubule structures is poorly …

MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric Open

Quan Sun, Yingxi Yang, Jonathan D. Rosen, Jiawen Chen, Xihao Li , et al. · 2024

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis Open

Gerard W. Dougherty, Lawrence E. Ostrowski, Tabea Nöthe-Menchen, Johanna Raidt, Andre Schramm , et al. · 2024

Rationale: Bronchiectasis is a pathological dilatation of the bronchi in the respiratory airways associated with environmental or genetic causes (e.g., cystic fibrosis, primary ciliary dyskinesia and primary immunodeficiency disorders), bu…

Long G4-rich enhancer physically interacts with EXOC3 promoter via a G4:G4 DNA-based mechanism Open

Jeffrey D. DeMeis, Justin T. Roberts, Haley A Delcher, Noel L Godang, Alexander B. Coley , et al. · 2024

Enhancers are genomic sequences that function as regulatory elements capable of increasing the transcription of a given gene often located at a considerable distance. The broadly accepted model of enhancer activation involves bringing an e…

Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia Open

Kimberley Kaspy, Sharon Dell, Stephanie D. Davis, Thomas W. Ferkol, Margaret Rosenfeld , et al. · 2023

Decoding negative genetic panels in primary ciliary dyskinesia Open

Robert A. Gardner, Scott D. Sagel, Michael R. Knowles, Thomas W. Ferkol, Stephanie D. Davis , et al. · 2023

The authors declare no conflict of interest. Data sharing is not applicable to this article as no new data were created or analyzed in this study. Please note: The publisher is not responsible for the content or functionality of any suppor…

Cover Image, Volume 58, Number 7, July 2023 Open

Julia Hunter‐Schouela, Michael T. Geraghty, Robert A. Hegele, David A. Dyment, David St Pierre , et al. · 2023

Front Cover Caption: The cover image is based on the Original Article First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit by Julia Hunter-Schouela et al., https://doi.org/10.1002/ppul.26414. Image…

First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit Open

Julia Hunter‐Schouela, Michael T. Geraghty, Robert A. Hegele, David A. Dyment, David St Pierre , et al. · 2023

Background Primary ciliary dyskinesia (PCD) is typically an autosomal recessive disease characterized by recurrent infections of the lower respiratory tract, frequent and severe otitis media, chronic rhinosinusitis, neonatal respiratory di…

Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients Open

Yi‐Hui Zhou, Paul J. Gallins, Rhonda G. Pace, Hong Dang, Melis A. Aksit , et al. · 2023

Rationale: Lung disease is the major cause of morbidity and mortality in persons with cystic fibrosis (pwCF). Variability in CF lung disease has substantial non-CFTR (CF transmembrane conductance regulator) genetic influence. Identi…

The inequitable exposure of socially vulnerable groups to water shortages across the United States Open

Leslie Sanchez, Travis Warziniack, Michael R. Knowles · 2023

Socially vulnerable populations in the United States are bearing the highest costs of water scarcity, which is likely to worsen with climate change, population growth, and growing disparities between areas with high water demand and the lo…

Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype Open

BreAnna Kinghorn, Margaret Rosenfeld, Erin Sullivan, Frankline Onchiri, Thomas W. Ferkol , et al. · 2022

Rationale: Primary ciliary dyskinesia (PCD) is characterized by impaired mucociliary clearance, recurrent respiratory infections, progressive airway damage, and obstructive lung disease. Although the association of ciliary ultrastru…

Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype Open

Andrew T. Barber, Adam J. Shapiro, Stephanie D. Davis, Thomas W. Ferkol, Jeffrey J. Atkinson , et al. · 2022

Rationale: The association between organ laterality abnormalities and ciliary ultrastructural defect or genotype in primary ciliary dyskinesia is poorly understood. Objectives: To determine if there is an association between …

<i>TUBB4B</i>variants specifically impact ciliary function, causing a ciliopathic spectrum Open

Sabrina Méchaussier, Daniel O Dodd, Patricia L. Yeyati, Fraser McPhie, Thomas Attard , et al. · 2022

Cilia are small microtubule-based structures found on the surface of most mammalian cells, which have key sensory and sometimes motile functions. Primary ciliary dyskinesia (PCD) is a type of ciliopathy caused by defects in motile cilia. T…

MagicalRsq: Machine-learning-based genotype imputation quality calibration Open

Quan Sun, Yingxi Yang, Jonathan D. Rosen, Min-Zhi Jiang, Jiawen Chen , et al. · 2022

Whole-genome sequencing (WGS) is the gold standard for fully characterizing genetic variation but is still prohibitively expensive for large samples. To reduce costs, many studies sequence only a subset of individuals or genomic regions, a…

Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis Open

Melis A. Aksit, Hua Ling, Rhonda G. Pace, Karen S. Raraigh, Frankline Onchiri , et al. · 2022

Michael R. Knowles YOU? Author Swipe