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Michael R. Knowles

University of North Carolina School of Medicine

99H指数
517论文数
3.6W被引数
收录论文 122
发表时间
ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in QuebecODAD4-相关原发性纤毛运动障碍:5例报告及魁北克地区的奠基者变异
err2025-09-20
err0
errOAAI
errMarie-Hélène Bourassa; Guillaume Sillon; Shuizi Ding; Maurizio Chioccioli; Monkol Lek; Kaiyue Ma; Alejandro Mejia-Garcia; Simon Gravel; Donald C. Vinh; Michael R. Knowles; Margaret W. Leigh; Stephanie D. Davis; Thomas Ferkol; Kenneth N. Olivier; Elizabeth N. Schecterman; Weining Yin; Patrick R. Sears; Martina Gentzsch; Susan E. Boyles; William D. Bennett; Kirby L. Zeman; Lawrence E. Ostrowski; Maimoona A. Zariwala; Adam J. Shapiro
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Airway Disease Progression on Chest Computed Tomography in Children With Primary Ciliary Dyskinesia儿童原发性纤毛运动障碍患者胸部计算机断层扫描中的气道病变进展
err2025-09-18
err0
PREAI
errBreAnna Kinghorn; Federico Mollica; Daan Caudri; Stephanie D. Davis; Sharon Dell; Thomas W. Ferkol; Robert Andrew Gardner; Michael R. Knowles; Carlos Milla; Jessica E. Pittman; Margaret Rosenfeld; Scott D. Sagel; Adam J. Shapiro; Erin Sullivan; Kelli M. Sullivan; Harm A. W. M. Tiddens; Maimoona A. Zariwala; Margaret W. Leigh; for the Genetic Disorders of Mucociliary Clearance Consortium
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Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome
err2025-05-01
err0
PREAI
errShapiro, 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.
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Long G4-rich enhancers target promoters via a G4 DNA-based mechanism
err2024-12-10
err0
errOAAI
errDemeis, Jeffrey D.; Roberts, Justin T.; Delcher, Haley A.; Godang, Noel L.; Coley, Alexander B.; Brown, Cana L.; Shaw, Michael H.; Naaz, Sayema; Dahal, Ayush; Alqudah, Shahem Y.; Nguyen, Kevin N.; Nguyen, Anita D.; Paudel, Sunita S.; Shell, John E.; Patil, Suhas S.; Dang, Hong; O'Neal, Wanda K.; Knowles, Michael R.; Houserova, Dominika; Gillespie, Mark N.; Borchert, Glen M.
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Late Breaking Abstract - Recessively inherited deficiency of secreted WFDC2 (HE4) causes nasal polyposis and bronchiectasis晚期研究摘要-分泌型WFDC2 (HE4) 隐性遗传缺陷导致鼻息肉和支气管扩张
err2024-10-30
err0
PREAI
errDougherty, Gerard; Ostrowski, Lawrence E.; Noethe-Menchen, Tabea; Raidt, Johanna; Schramm, Andre; Olbrich, Heike; Yin, Weining; Sears, Patrick R.; Dang, Hong; Smith, Amanda J.; Beule, Achim G.; Hjeij, Rim; Rutjes, Niels; Haarman, Eric G.; Maas, Saskia M.; Ferkol, Thomas W.; Noone, Peadar G.; Olivier, Kenneth N.; Bracht, Diana C.; Barbry, Pascal; Zaragosi, Laure-Emmanuelle; Fierville, Morgane; Kliesch, Sabine; Wohlgemuth, Kai; Koenig, Julia; George, Sebastian; Loges, Niki; Ceppe, Agathe; Markovetz, Matthew R.; Luo, Hong; Guo, Ting; Rizk, Hoda; Eldesoky, Tarek; Dahlke, Katrin; Boldt, Karsten; Ueffing, Marius; Hill, David B.; Pang, Yuan-Ping; Knowles, Michael R.; Zariwala, Maimoona A.; Omran, Heymut
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Genetic modifiers of body mass index in individuals with cystic fibrosis
err2024-10-01
err0
PREAI
errLing, Hua; Raraigh, Karen S.; Pugh, Elizabeth W.; Aksit, Melis A.; Zhang, Peng; Pace, Rhonda G.; Faino, Anna, V; Bamshad, Michael J.; Gibson, Ronald L.; O'Neal, Wanda; Knowles, Michael R.; Blackman, Scott M.; Cutting, Garry R.
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The clinical utility of sequencing the entirety of CFTR
err2024-07-01
err1
PREAI
errSheridan, Molly B.; Aksit, Melis A.; Pagel, Kymberleigh; Hetrick, Kurt; Shultz-Lutwyche, Hannah; Myers, Ben; Buckingham, Kati J.; Pace, Rhonda G.; Ling, Hua; Pugh, Elizabeth; O'Neal, Wanda K.; Bamshad, Michael J.; Gibson, Ronald L.; Knowles, Michael R.; Blackman, Scott M.; Cutting, Garry R.; Raraigh, Karen S.
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Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary DyskinesiaSitus歧义与原发性睫状运动障碍儿童的不良临床结局相关
errCHEST
IF8.6
err2024-05-01
err1
PREAI
errKaspy, Kimberley R.; Dell, Sharon D.; Davis, Stephanie D.; Ferkol, Thomas W.; Rosenfeld, Margaret; Sagel, Scott D.; Milla, Carlos; Olivier, Kenneth N.; Barber, Andrew T.; Wee, Wallace; Lin, Feng-Chang; Li, Lang; Rampakakis, Emmanouil; Zariwala, Maimoona A.; Knowles, Michael R.; Leigh, Margaret W.; Shapiro, Adam J.
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MagicalRsq-X: A cross-cohort transferable genotype imputation quality metricMagicalrsq-x: 一种跨队列可转移基因型归约质量指标
err2024-05-01
err2
PREAI
errSun, Quan; Yang, Yingxi; Rosen, Jonathan D.; Chen, Jiawen; Li, Xihao; Guan, Wyliena; Jiang, Min-Zhi; Wen, Jia; Pace, Rhonda G.; Blackman, Scott M.; Bamshad, Michael J.; Gibson, Ronald L.; Cutting, Garry R.; O'Neal, Wanda K.; Knowles, Michael R.; Kooperberg, Charles; Reiner, Alexander P.; Raffield, Laura M.; Carson, April P.; Rich, Stephen S.; Rotter, Jerome I.; Loos, Ruth J. F.; Kenny, Eimear; Jaeger, Byron C.; Min, Yuan -, I; Fuchsberger, Christian; Li, Yun
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Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
err2024-04-16
err3
errOAAI
errDougherty, Gerard W.; Ostrowski, Lawrence E.; Noethe-Menchen, Tabea; Raidt, Johanna; Schramm, Andre; Olbrich, Heike; Yin, Weining; Sears, Patrick R.; Dang, Hong; Smith, Amanda J.; Beule, Achim G.; Hjeij, Rim; Rutjes, Niels; Haarman, Eric G.; Maas, Saskia M.; Ferkol, Thomas W.; Noone, Peadar G.; Olivier, Kenneth N.; Bracht, Diana C.; Barbry, Pascal; Zaragosi, Laure-Emmanuelle; Fierville, Morgane; Kliesch, Sabine; Wohlgemuth, Kai; Koenig, Julia; George, Sebastian; Loges, Niki T.; Ceppe, Agathe; Markovetz, Matthew R.; Luo, Hong; Guo, Ting; Rizk, Hoda; Eldesoky, Tarek; Dahlke, Katrin; Boldt, Karsten; Ueffing, Marius; Hill, David B.; Pang, Yuan-Ping; Knowles, Michael R.; Zariwala, Maimoona A.; Omran, Heymut
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Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis
err2024-03-27
err2
PREAI
errStonebraker, Jaclyn; Pace, Rhonda; Gallins, Paul; Dang, Hong; Aksit, Melis; Faino, Anna; Gordon, William; Macparland, Sonya; Bamshad, Michael; Gibson, Ronald; Cutting, Garry; Durie, Peter; Wright, Fred; Zhou, Yi-Hui; Blackman, Scott; O'Neal, Wanda; Ling, Simon; Knowles, Michael
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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
err2024-01-01
err11
PREAI
errRingshausen, Felix C.; Shapiro, Adam J.; Nielsen, Kim G.; Mazurek, Henryk; Pifferi, Massimo; Donn, Karl H.; van der Eerden, Menno M.; Loebinger, Michael R.; Zariwala, Maimoona A.; Leigh, Margaret W.; Knowles, Michael R.; Ferkol, Thomas W.
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RCT Abstract - Safety and efficacy of idrevloride in people with primary ciliary dyskinesia: a double-blind, randomized, placebo-controlled crossover trial (CLEAN-PCD)
err2023-10-27
err0
PREAI
errRingshausen, Felix C.; Shapiro, Adam J.; Nielsen, Kim G.; Mazurek, Henryk; Pifferi, Massimo; Donn, Karl H.; Van Der Eerden, Menno M.; Loebinger, Michael R.; Zariwala, Maimoona A.; Leigh, Margaret W.; Knowles, Michael R.; Ferkol, Thomas W.
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Genetic Modifiers of Cystic Fibrosis Lung Disease Severity囊性纤维化肺疾病严重程度的遗传调节剂
err2023-05-15
err14
PREAI
errZhou, Yi-Hui; Gallins, Paul J.; Pace, Rhonda G.; Dang, Hong; Aksit, Melis A.; Blue, Elizabeth E.; Buckingham, Kati J.; Collaco, Joseph M.; Faino, Anna V.; Gordon, William W.; Hetrick, Kurt N.; Ling, Hua; Liu, Weifang; Onchiri, Frankline M.; Pagel, Kymberleigh; Pugh, Elizabeth W.; Raraigh, Karen S.; Rosenfeld, Margaret; Sun, Quan; Wen, Jia; Li, Yun; Corvol, Harriet; Strug, Lisa J.; Bamshad, Michael J.; Blackman, Scott M.; Cutting, Garry R.; Gibson, Ronald L.; O'Neal, Wanda K.; Wright, Fred A.; Knowles, Michael R.
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Airway Disease in Children with Primary Ciliary Dyskinesia Impact of Ciliary Ultrastructure Defect and Genotype
err2023-04-01
err13
PREAI
errKinghorn, BreAnna; Rosenfeld, Margaret; Sullivan, Erin; Onchiri, Frankline; Ferkol, Thomas W.; Sagel, Scott D.; Dell, Sharon D.; Milla, Carlos; Shapiro, Adam J.; Sullivan, Kelli M.; Zariwala, Maimoona A.; Pittman, Jessica E.; Mollica, Federico; Tiddens, Harm A. W. M.; Kemner-van De Corput, Mariette; Knowles, Michael R.; Davis, Stephanie D.; Leigh, Margaret W.
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Laterality Defects in Primary Ciliary Dyskinesia Relationship to Ultrastructural Defect or Genotype
err2023-03-01
err10
errOAAI
errBarber, Andrew T.; Shapiro, Adam J.; Davis, Stephanie D.; Ferkol, Thomas W.; Atkinson, Jeffrey J.; Sagel, Scott D.; Dell, Sharon D.; Olivier, Kenneth N.; Milla, Carlos E.; Rosenfeld, Margaret; Li, Lang; Lin, Feng-Chang; Sullivan, Kelli M.; Capps, Nicole A.; Zariwala, Maimoona A.; Knowles, Michael R.; Leigh, Margaret W.
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Airway Inflammation in Children with Primary Ciliary Dyskinesia
err2023-01-01
err7
errOAAI
errSagel, Scott D.; Kupfer, Oren; Wagner, Brandie D.; Davis, Stephanie D.; Dell, Sharon D.; Ferkol, Thomas W.; Hoppe, Jordana E.; Rosenfeld, Margaret; Sullivan, Kelli M.; Tiddens, Harm A. W. M.; Knowles, Michael R.; Leigh, Margaret W.
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MagicalRsq: Machine-learning-based genotype imputation quality calibrationMagicalRsq: 基于机器学习的基因型归因质量校准
err2022-11-01
err9
errOAAI
errSun, Quan; Yang, Yingxi; Rosen, Jonathan D.; Jiang, Min-Zhi; Chen, Jiawen; Liu, Weifang; Wen, Jia; Raffield, Laura M.; Pace, Rhonda G.; Zhou, Yi-Hui; Wright, Fred A.; Blackman, Scott M.; Bamshad, Michael J.; Gibson, Ronald L.; Cutting, Garry R.; Knowles, Michael R.; Schrider, Daniel R.; Fuchsberger, Christian; Li, Yun
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Association of Neonatal Hospital Length of Stay with Lung Function in Primary Ciliary Dyskinesia
err2022-11-01
err6
errOAAI
errWee, Wallace B.; Leigh, Margaret W.; Davis, Stephanie D.; Rosenfeld, Margaret; Sullivan, Kelli M.; Sawras, Michael G.; Ferkol, Thomas W.; Knowles, Michael R.; Milla, Carlos; Sagel, Scott D.; Zariwala, Maimoona A.; Pullenayegum, Eleanor; Dell, Sharon D.
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