Michael R. Knowles

University of North Carolina at Chapel Hill

Also affiliated with Open Geospatial Consortium, Lung Institute

MedicineBiochemistry, Genetics and Molecular BiologyHealth Professions

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 5%percentile

0.348Author DataRank

Indexed papers

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Genome Reference and Sequence Variation in the Large Repetitive Central Exon of Human MUC5AC

UNC Libraries(2020)10.17615/j2k8-6b67

Top 51%

0.348DataRank

Top 51%3 citations

Rhonda G. Pace, Judith A. Voynow, Jaclyn R. Stonebraker, Zheng Shuo, George Xianzhi Yuan +11 more

Papers

Driven by 87 papers — median percentile 49. Top paper: “Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients”.

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

American Journal of Respiratory and Critical Care Medicine(2023)10.1164/rccm.202209-1653oc

N/A

0.930DataRank · unranked

38 citations

Paul J. Gallins, Rhonda G. Pace, Hong Dang, Melis A. Aksit, Elizabeth Blue +25 more

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

American Journal of Respiratory and Critical Care Medicine(2024)10.1164/rccm.202308-1370oc

N/A

0.775DataRank · unranked

15 citations

Lawrence E. Ostrowski, Tabea Nöthe-Menchen, Johanna Raidt, Andre Schramm, Heike Olbrich +36 more

The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia

Journal of Cell Science(2022)10.1242/jcs.259512

N/A

0.442DataRank · unranked

18 citations

Ximena M. Bustamante-Marin, Weining Yin, Patrick R. Sears, Laura E. Herring, Nedyalka Dicheva +8 more

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

CHEST Journal(2023)10.1016/j.chest.2023.12.005

N/A

0.411DataRank · unranked

8 citations

Sharon Dell, Stephanie D. Davis, Thomas W. Ferkol, Margaret Rosenfeld, Scott D. Sagel +12 more

Association of Neonatal Hospital Length of Stay with Lung Function in Primary Ciliary Dyskinesia

Annals of the American Thoracic Society(2022)10.1513/annalsats.202202-116oc

N/A

0.385DataRank · unranked

12 citations

Margaret W. Leigh, Stephanie D. Davis, Margaret Rosenfeld, Kelli M. Sullivan, Michael Sawras +8 more

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

Annals of the American Thoracic Society(2024)10.1513/annalsats.202311-1008oc

N/A

0.360DataRank · unranked

10 citations

Margaret Rosenfeld, Erin Sullivan, Frankline Onchiri, Marshall Brown, Rhonda D. Szczesniak +12 more

Genome Reference and Sequence Variation in the Large Repetitive Central Exon of Human MUC5AC

UNC Libraries(2020)10.17615/j2k8-6b67

Top 51%

0.348DataRank

Top 51%3 citations

Rhonda G. Pace, Judith A. Voynow, Jaclyn R. Stonebraker, Zheng Shuo, George Xianzhi Yuan +11 more

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

UNC Libraries(2020)10.17615/8x9f-ta04

N/A

0.269DataRank · unranked

5 citations

Sharon Dell, Stephanie D. Davis, Kelli M. Sullivan, Kenneth N. Olivier, Johnny L. Carson +12 more

Features of Severe Liver Disease With Portal Hypertension in Patients With Cystic Fibrosis

UNC Libraries(2020)10.17615/282s-g211

N/A

0DataRank · unranked

6 citations

Peter R. Durie, Chee Y. Ooi, Harriet Corvol, Jaclyn R. Stonebraker, Michael R. Knowles +2 more

Future Directions in Early Cystic Fibrosis Lung Disease Research: An NHLBI Workshop Report

UNC Libraries(2020)10.17615/5b7f-j030

N/A

0DataRank · unranked

3 citations

Frank J. Accurso, Michael R. Knowles, John F. Engelhardt, Bonnie W. Ramsey, Susan V. Lynch +12 more

Age of Pseudomonas aeruginosa acquisition and subsequent severity of cystic fibrosis lung disease

UNC Libraries(2020)10.17615/vp7p-r776

N/A

0DataRank · unranked

5 citations

Michael R. Knowles, Mary J. Emond, Margaret W. Leigh, Mitchell L. Drumm, Annelies Van Rie +6 more

Primary Ciliary Dyskinesia in Amish Communities

Carolina Digital Repository (University of North Carolina at Chapel Hill)(2020)10.17615/280f-9c31

N/A

0DataRank · unranked

3 citations

David E. Brown, David Molter, Hauw Lie, Cynthia Helms, Margaret W. Leigh +7 more

Mucin Variable Number Tandem Repeat Polymorphisms and Severity of Cystic Fibrosis Lung Disease: Significant Association with MUC5AC

UNC Libraries(2020)10.17615/ea11-xk60

N/A

0DataRank · unranked

3 citations

Ann Harris, Rhonda G. Pace, Jaclyn R. Stonebraker, Dallas M. Swallow, Fei Zou +7 more

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia

UNC Libraries(2020)10.17615/1phh-2008

N/A

0DataRank · unranked

2 citations

Kangkang Song, Daniela Nicastro, Lawrence E. Ostrowski, Weining Yin, Maimoona A. Zariwala +4 more

Plasma TGF-β1 in pediatric cystic fibrosis: Potential biomarker of lung disease and response to therapy

UNC Libraries(2020)10.17615/7jx5-aw13

N/A

0DataRank · unranked

1 citations

William T. Harris, J. P. Clancy, Michael R. Knowles, Marianne S. Muhlebach, Robert A. Oster +1 more

Phospholipase C- 3 Is a Key Modulator of IL-8 Expression in Cystic Fibrosis Bronchial Epithelial Cells

UNC Libraries(2020)10.17615/7a11-9y62

N/A

0DataRank · unranked

1 citations

Alessandro Rimessi, Paolo Pinton, Pio D’Adamo, Giulia Bisoffi, Michael R. Knowles +11 more

Quantification of Population Structure Using Correlated SNPs by Shrinkage Principal Components

UNC Libraries(2020)10.17615/ayj4-vf21

N/A

0DataRank · unranked

2 citations

Fei Zou, Michael R. Knowles, Fred A. Wright, Seunggeun Lee

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

PMC(2020)10.17615/2swt-hn18

N/A

0DataRank · unranked

0 citations

Nicolas F. Berbari, Erik B. Malarkey, Raqual Bower, Sophie Saunier, Jonathan D. Porath +16 more

Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation

UNC Libraries(2020)10.17615/evkw-v287

N/A

0DataRank · unranked

0 citations

Heike Olbrich, Anne-Marie Bridoux, Franck Ceppa, Lucy C. Morgan, Michael R. Knowles +20 more

Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease

UNC Libraries(2020)10.17615/cw42-9149

N/A

0DataRank · unranked

0 citations

Eckhard R. Podack, Rebecca A. Drummond, Michael R. Knowles, Kenneth N. Olivier, Andrew J. Oler +17 more

Ets homologous factor regulates pathways controlling response to injury in airway epithelial cells

UNC Libraries(2020)10.17615/cvcr-rp88

N/A

0DataRank · unranked

0 citations

Shih‐Hsing Leir, Hong Dang, Sara L. Fossum, Michael R. Knowles, Wanda K. O’Neal +3 more

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

UNC Libraries(2020)10.17615/2mgm-cp36

N/A

0DataRank · unranked

0 citations

Johanna Raidt, Charlotte Jahnke, Gerard W. Dougherty, Rim Hjeij, Claudius Werner +27 more

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

Carolina Digital Repository (University of North Carolina at Chapel Hill)(2020)10.17615/gtwm-s157

N/A

0DataRank · unranked

0 citations

Michael R. Knowles, Daniels, Leigh Anne, Margaret W. Leigh, Maimoona A. Zariwala, Stephanie D. Davis

Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p

UNC Libraries(2020)10.17615/q665-8329

N/A

0DataRank · unranked

0 citations

Margaret Rosenfeld, Karen E. Weck, Margaret W. Leigh, Michael R. Knowles, Maimoona A. Zariwala +3 more

Early childhood lung function is a stronger predictor of adolescent lung function in cystic fibrosis than early Pseudomonas aeruginosa infection

UNC Libraries(2020)10.17615/zrda-vn62

N/A

0DataRank · unranked

0 citations

Hannah Noah, Marci K. Sontag, Stephanie D. Davis, Frank J. Accurso, Scott D. Sagel +5 more

Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis

UNC Libraries(2020)10.17615/7g6r-x003

N/A

0DataRank · unranked

0 citations

Harriet Corvol, Patrick R. Sosnay, Rhonda G. Pace, Garry R. Cutting, John McGready +7 more

Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: A multicenter experience

(2020)10.17615/fcqg-2h28

N/A

0DataRank · unranked

0 citations

Margaret Rosenfeld, Brock R. Baker, Margaret W. Leigh, Stephanie D. Davis, Michael R. Knowles +10 more

Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

UNC Libraries(2020)10.17615/qnn1-9c27

N/A

0DataRank · unranked

0 citations

Margaret Rosenfeld, Maimoona A. Zariwala, Johnny L. Carson, Adam J. Shapiro, Stephanie D. Davis +11 more

Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia

UNC Libraries(2020)10.17615/4v2s-3a32

N/A

0DataRank · unranked

0 citations

Heike Olbrich, Manfred Fliegauf, Heymut Omran, Marcus P. Kennedy, Michael R. Knowles +3 more

Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities

UNC Libraries(2020)10.17615/159g-gp89

N/A

0DataRank · unranked

0 citations

Milan J. Hazucha, Margaret W. Leigh, Thomas W. Ferkol, D. Holmes Morton, Kevin A. Strauss +8 more

Meconium ileus in cystic fibrosis is not linked to central repetitive region length variation in MUC1, MUC2, and MUC5AC

UNC Libraries(2020)10.17615/4jps-wt87

N/A

0DataRank · unranked

0 citations

Wanda K. O’Neal, Rhonda G. Pace, Michael R. Knowles, Guo, Xueliang, Jaclyn R. Stonebraker

DYX1C1 is required for axonemal dynein assembly and ciliary motility

UNC Libraries(2020)10.17615/z79a-w507

N/A

0DataRank · unranked

0 citations

Cecilia Lo, Hannah M. Mitchison, Michael R. Knowles, Maimoona A. Zariwala, Ronald Roepman +6 more

Classifying Severity of Cystic Fibrosis Lung Disease Using Longitudinal Pulmonary Function Data

UNC Libraries(2020)10.17615/k1p7-pz80

N/A

0DataRank · unranked

0 citations

Mitchell L. Drumm, Michael W. Konstan, Mark Schluchter, James R. Yankaskas, Michael R. Knowles

Histo-Blood Group Gene Polymorphisms as Potential Genetic Modifiers of Infection and Cystic Fibrosis Lung Disease Severity

UNC Libraries(2020)10.17615/2x23-rn44

N/A

0DataRank · unranked

0 citations

Fred A. Wright, Michael R. Knowles, Hollin E. Calloway, Lauranell H. Burch, Maimoona A. Zariwala +5 more

High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy

UNC Libraries(2020)10.17615/k10x-s565

N/A

0DataRank · unranked

0 citations

Heymut Omran, Patricia S. Connelly, Nadav Kravitz, Mathew P. Daniels, Iman Sami +23 more

Primary Ciliary Dyskinesia: First Health-related Quality of Life Measures for Pediatric Patients

UNC Libraries(2020)10.17615/pjv3-de73

N/A

0DataRank · unranked

0 citations

Adrianne Alpern, Laura Behan, Jane S. Lucas, Michael R. Knowles, Margaret W. Leigh +6 more

No Detectable Improvements in Cystic Fibrosis Transmembrane Conductance Regulator by Nasal Aminoglycosides in Patients with Cystic Fibrosis with Stop Mutations

UNC Libraries(2020)10.17615/fpqk-pq43

N/A

0DataRank · unranked

0 citations

Moss, Rick, Pamela L. Zeitlin, Robert A. Oster, Steven M. Rowe, Zsuzsa Bebők +7 more

Sperm-Associated Antigen 6 (SPAG6) Deficiency and Defects in Ciliogenesis and Cilia Function: Polarity, Density, and Beat

UNC Libraries(2020)10.17615/q9y0-tc35

N/A

0DataRank · unranked

0 citations

Waixing Tang, Patrick R. Sears, Zhengang Zhang, C. William Davis, Wei Li +6 more

Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

UNC Libraries(2020)10.17615/d4h2-zc14

N/A

0DataRank · unranked

0 citations

Benjamin T Levinson, Emily H. Turner, Michael R. Knowles, Amjad Horani, Thomas W. Ferkol +14 more

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

UNC Libraries(2020)10.17615/3853-0b14

N/A

0DataRank · unranked

0 citations

Niki T. Loges, Margaret W. Leigh, Angelina Heer, Hanswalter Zentgraf, Richard Reinhardt +12 more

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

UNC Libraries(2020)10.17615/7vzp-r892

N/A

0DataRank · unranked

0 citations

Tracy Stockley, Tara Paton, Stephen W. Scherer, Sharon Dell, David A. Hall +7 more

Primary Ciliary Dyskinesia

UNC Libraries(2020)10.17615/9rvs-gb21

N/A

0DataRank · unranked

0 citations

Michael R. Knowles, Maimoona A. Zariwala, Margaret W. Leigh

Variation in MSRA Modifies Risk of Neonatal Intestinal Obstruction in Cystic Fibrosis

UNC Libraries(2020)10.17615/155m-y663

N/A

0DataRank · unranked

0 citations

Garry R. Cutting, Peter R. Durie, Kathleen Naughton, Mitchell L. Drumm, Scott M. Blackman +5 more

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population

UNC Libraries(2020)10.17615/w2rh-d822

N/A

0DataRank · unranked

0 citations

Maimoona A. Zariwala, Chaim Jalas, Nathan R. Treff, Anastasia Fedick, Michael R. Knowles

A New Tool Improves Diagnostic Test Performance for Transmission EM Evaluation of Axonemal Dynein Arms

UNC Libraries(2020)10.17615/55bn-7729

N/A

0DataRank · unranked

0 citations

William K. Funkhouser, Johnny L. Carson, Maimoona A. Zariwala, Margaret W. Leigh, Marc Niethammer +2 more

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review: Diagnosis and Management of PCD

UNC Libraries(2020)10.17615/q1hj-ph34

N/A

0DataRank · unranked

0 citations

Margaret W. Leigh, Thomas W. Ferkol, Adam J. Kimple, Kenneth N. Olivier, Margaret Rosenfeld +9 more

Mucus clearance as a primary innate defense mechanism for mammalian airways

UNC Libraries(2020)10.17615/r02t-5h69

N/A

0DataRank · unranked

0 citations

Richard C. Boucher, Michael R. Knowles

Gene Expression in Transformed Lymphocytes Reveals Variation in Endomembrane and HLA Pathways Modifying Cystic Fibrosis Pulmonary Phenotypes

UNC Libraries(2020)10.17615/fs04-gd37

N/A

0DataRank · unranked

0 citations

Hong Dang, Jinyan Huang, Michael R. Knowles, Wei Sun, Yi‐Hui Zhou +15 more

Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants

UNC Libraries(2020)10.17615/vxz4-nd67

N/A

0DataRank · unranked

0 citations

Katherine R. Birchard, Peadar G. Noone, Michael V. Patrone, M. Leigh Anne Daniels, Michael R. Knowles +1 more

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

UNC Libraries(2020)10.17615/zskw-8w31

N/A

0DataRank · unranked

0 citations

Michael R. Knowles, Sharon Dell, Maimoona A. Zariwala, Thomas W. Ferkol, Johnny L. Carson +3 more

In Vivo Airway Surface Liquid Cl − Analysis with Solid-State Electrodes

UNC Libraries(2020)10.17615/dc4z-gg69

N/A

0DataRank · unranked

0 citations

Barbara R. Grubb, Pierre Barker, Robert Tarran, Richard C. Boucher, Ray A. Caldwell +1 more

Primary ciliary dyskinesia: improving the diagnostic approach

UNC Libraries(2020)10.17615/pn8k-ss66

N/A

0DataRank · unranked

0 citations

Margaret W. Leigh, Michael R. Knowles, Maimoona A. Zariwala

SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR

Journal of Cystic Fibrosis(2021)10.1016/j.jcf.2021.02.007

N/A

0DataRank · unranked

15 citations

Rhonda G. Pace, Hong Dang, Melis A. Aksit, Briana Vecchio-Pagán, Anh-Thu N. Lam +5 more

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

UNC Libraries(2021)10.17615/tf25-rz86

N/A

0DataRank · unranked

18 citations

Johnny L. Carson, Niki T. Loges, Thomas W. Ferkol, Margaret Rosenfeld, Maimoona A. Zariwala +16 more

Robust W1282X-CFTR rescue by a small molecule GSPT1 degrader

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.09.28.462149

N/A

0DataRank · unranked

0 citations

Catherine A. Lewis, Lihua He, Samuel C. Gallant, Teresa Mascenik, Hong Dang +8 more

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

UNC Libraries(2021)10.17615/c3t0-gh30

N/A

0DataRank · unranked

0 citations

Maimoona A. Zariwala, Johnny L. Carson, Margaret Rosenfeld, Stephanie D. Davis, Margaret W. Leigh +16 more

Correction of Aberrant Splicing of the Cystic Fibrosis Transmembrane Conductance Regulator ( CFTR ) Gene by Antisense Oligonucleotides

UNC Libraries(2021)10.17615/dh35-8t25

N/A

0DataRank · unranked

0 citations

Jolanta Kole, Jonathan Cohn, Kenneth J. Friedman, Michael R. Knowles, Ryszard Kole +1 more

Cystic fibrosis gene mutations and pancreatitis risk: Relation to epithelial ion transport and trypsin inhibitor gene mutations

UNC Libraries(2021)10.17615/vd17-8n55

N/A

0DataRank · unranked

0 citations

Michael R. Knowles, Jonathan Cohn, Lawrence M. Silverman, Paul S. Jowell, Peadar G. Noone +1 more

Calcium stone lithoptysis in primary ciliary dyskinesia

UNC Libraries(2021)10.17615/rajd-d105

N/A

0DataRank · unranked

0 citations

Andrew J. Ghio, Michael R. Knowles, Susan L. Minnix, John M. Carson, Peadar G. Noone +3 more

Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough

Journal of Clinical Investigation(2022)10.1172/jci154571

N/A

0DataRank · unranked

35 citations

Catherine A. Lewis, Lihua He, Emily C. Bulik‐Sullivan, Samuel C. Gallant, Teresa Mascenik +11 more

Airway Inflammation in Children with Primary Ciliary Dyskinesia

Annals of the American Thoracic Society(2022)10.1513/annalsats.202204-314oc

N/A

0DataRank · unranked

26 citations

Oren Kupfer, Brandie D. Wagner, Stephanie D. Davis, Sharon Dell, Thomas W. Ferkol +7 more

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

Annals of the American Thoracic Society(2022)10.1513/annalsats.202206-524oc

N/A

0DataRank · unranked

32 citations

Margaret Rosenfeld, Erin Sullivan, Frankline Onchiri, Thomas W. Ferkol, Scott D. Sagel +13 more

MagicalRsq: Machine-learning-based genotype imputation quality calibration

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.09.009

N/A

0DataRank · unranked

19 citations

Yingxi Yang, Jonathan D. Rosen, Min-Zhi Jiang, Jiawen Chen, Weifang Liu +14 more

HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians

Annals of the American Thoracic Society(2022)10.1513/annalsats.202203-253rl

N/A

0DataRank · unranked

16 citations

Guillaume Sillon, Daniela D’Agostino, Laurence Baret, Francesc López‐Giráldez, Shrikant Mane +5 more

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype

International Journal of Molecular Sciences(2022)10.3390/ijms23031753

N/A

0DataRank · unranked

9 citations

Weining Yin, Amanda Smith, Patrick R. Sears, Ximena M. Bustamante-Marin, Hong Dang +8 more

A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia

American Journal of Respiratory Cell and Molecular Biology(2022)10.1165/rcmb.2022-0176le

N/A

0DataRank · unranked

8 citations

Jaclyn R. Stonebraker, Michael R. Knowles, Maimoona A. Zariwala, Adam J. Shapiro

Accounting for population structure in genetic studies of cystic fibrosis

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100117

N/A

0DataRank · unranked

6 citations

Adrienne M. Stilp, William W. Gordon, Jai Broome, Stephanie M. Gogarten, Hua Ling +20 more

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype

UNC Libraries(2022)10.17615/a6ga-aw93

N/A

0DataRank · unranked

0 citations

Michael R. Knowles, Ximena M. Bustamante-Marin, Amanda Smith, Hong Dang, Weining Yin +8 more

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

Pediatric Pulmonology(2023)10.1002/ppul.26414

N/A

0DataRank · unranked

19 citations

Michael T. Geraghty, Robert A. Hegele, David A. Dyment, David St Pierre, Julie Richer +8 more

Decoding negative genetic panels in primary ciliary dyskinesia

Pediatric Pulmonology(2023)10.1002/ppul.26790

N/A

0DataRank · unranked

3 citations

Scott D. Sagel, Michael R. Knowles, Thomas W. Ferkol, Stephanie D. Davis, Margaret W. Leigh +2 more

Airway Disease Progression on Chest Computed Tomography in Children With Primary Ciliary Dyskinesia

(2023)10.1164/ajrccm-conference.2023.207.1_meetingabstracts.a4225

N/A

0DataRank · unranked

0 citations

Michael Rosenfeld, Daan Caudri, Sharon Dell, Thomas W. Ferkol, Michael R. Knowles +13 more

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

Science(2024)10.1126/science.adf5489

N/A

0DataRank · unranked

48 citations

Sabrina Méchaussier, Patricia L. Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo +75 more

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

Pediatric Pulmonology(2024)10.1002/ppul.27412

N/A

0DataRank · unranked

6 citations

Thomas Ferkol, Stephanie D. Davis, Margaret Rosenfeld, Scott D. Sagel, Sharon Dell +8 more

Genetic modifiers of body mass index in individuals with cystic fibrosis

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.08.004

N/A

0DataRank · unranked

4 citations

Karen S. Raraigh, Elizabeth Pugh, Melis A. Aksit, Peng Zhang, Rhonda G. Pace +39 more

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

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.04.001

N/A

0DataRank · unranked

4 citations

Yingxi Yang, Jonathan D. Rosen, Jiawen Chen, Xihao Li, Wyliena Guan +22 more

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

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63880

N/A

0DataRank · unranked

1 citations

Weining Yin, Amanda Smith, Patrick R. Sears, Margaret W. Leigh, Thomas W. Ferkol +20 more

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

Pediatric Pulmonology(2025)10.1002/ppul.71091

N/A

0DataRank · unranked

7 citations

Stephanie D. Davis, Thomas W. Ferkol, Adam J. Shapiro, Jeffrey J. Atkinson, Scott D. Sagel +12 more

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

The Journal of Pediatrics(2025)10.1016/j.jpeds.2025.114499

N/A

0DataRank · unranked

5 citations

Eveline Y. Wu, Déborah Morris-Rosendahl, Kenneth N. Olivier, Sharon Dell, Scott D. Sagel +13 more

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

Nature Medicine(2020)10.1038/s41591-019-0730-x

N/A

0DataRank · unranked

75 citations

Daniel T. Montoro, Hui Min Leung, Jason Yang, Hanan E. Shamseldin, Martin S. Taylor +16 more

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

UNC Libraries(2025)10.17615/eftt-rm75

N/A

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0 citations

Maimoona A. Zariwala, Kenneth N. Olivier, Amanda Smith, Hong Dang, Weining Yin +20 more

Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

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CHEST Journal(2020)10.1016/j.chest.2020.06.050

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0DataRank · unranked

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Radmila Choate, Doreen Addrizzo‐Harris, Timothy R. Aksamit, Alan R. Barker, Charles L. Daley +17 more

Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

UNC Libraries(2020)10.17615/bke0-4f52

N/A

0DataRank · unranked

25 citations

Jane S. Lucas, Amelia Shoemark, Mitra Forouhan, Martine Jaspers, Margaret W. Leigh +27 more

DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects

MPG.PuRe (Max Planck Society)(2020)10.17615/9tbv-k579

N/A

0DataRank · unranked

18 citations

Stylianos E. Antonarakis, Nada Hornef, Ralf Sudbrak, Johannes H. Wildhaber, Marcus P. Kennedy +15 more

Founder Mutation in RSPH4A Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

UNC Libraries(2020)10.17615/5n8c-g097

N/A

0DataRank · unranked

8 citations

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Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

UNC Libraries(2020)10.17615/qkmj-fx23

N/A

0DataRank · unranked

7 citations

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Na+ transport in cystic fibrosis respiratory epithelia. Abnormal basal rate and response to adenylate cyclase activation.

UNC Libraries(2020)10.17615/bx85-s841

N/A

0DataRank · unranked

29 citations

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