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Author Details

Garry R Cutting
Johns Hopkins University School of Medicine
1988
254
78
PMIDPaper TitleJournal TitlePublished Year
36350568The human embryonic genome is karyotypically complex, with chromosomally abnormal cells preferentially located away from the developing fetus.Hum Reprod2023
37547293Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.Mol Ther Nucleic Acids2023
37649273Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.Hum Mol Genet2023
37272896Extracellular vesicles enhance pulmonary transduction of stably associated adeno-associated virus following intratracheal administration.J Extracell Vesicles2023
36921087Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.Am J Respir Crit Care Med2023
34393091Comparing encounter-based and annualized chronic pseudomonas infection definitions in cystic fibrosis.J Cyst Fibros2022
35647563Accounting for population structure in genetic studies of cystic fibrosis.HGG Adv2022
35527187Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants.J Cyst Fibros2022
36143233Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination.J Pers Med2022
36198314MagicalRsq: Machine-learning-based genotype imputation quality calibration.Am J Hum Genet2022
36344068Genetics of Cystic Fibrosis: Clinical Implications.Clin Chest Med2022
33753897Characterizing mucociliary clearance in young children with cystic fibrosis.Pediatr Res2022
35315358CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.JCI Insight2022
35128485Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients.HGG Adv2022
34906463Accurate assignment of disease liability to genetic variants using only population data.Genet Med2022
34996830<i>C</i> <i>FTR</i> variants are associated with chronic bronchitis in smokers.Eur Respir J2022
34782259Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.J Cyst Fibros2022
33252176Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.Hum Mutat2021
33674211SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR.J Cyst Fibros2021
33500570Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth.Genet Med2021
34389817Correction to: Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth.Genet Med2021
34478655Response to Biesecker et al.Am J Hum Genet2021
34099697A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.Nat Commun2021
31581148Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis.J Clin Invest2020
32061517Predictive effects of low birth weight and small for gestational age status on respiratory and nutritional outcomes in cystic fibrosis.J Cyst Fibros2020
31697830Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits.J Clin Endocrinol Metab2020
31879237The genetics and genomics of cystic fibrosis.J Cyst Fibros2020
33253230Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation.PLoS One2020
33085659Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.PLoS Genet2020
32282124Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis.Int Forum Allergy Rhinol2020
32404922CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2020
32258431Out-of-clinic measurement of sweat chloride using a wearable sensor during low-intensity exercise.NPJ Digit Med2020
30888834Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.Am J Respir Crit Care Med2019
29937318AGTR2 absence or antagonism prevents cystic fibrosis pulmonary manifestations.J Cyst Fibros2019
29934203CFTR modulator theratyping: Current status, gaps and future directions.J Cyst Fibros2019
30230364Acquired Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction and Radiographic Bronchiectasis in Current and Former Smokers: A Cross-Sectional Study.Ann Am Thorac Soc2019
31611131Cystic fibrosis transmembrane conductance regulator modulators reduce the risk of recurrent acute pancreatitis among adult patients with pancreas sufficient cystic fibrosis.Pancreatology2019
30807572Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.PLoS Genet2019
30979791Integrated Transcriptomic and Proteomic Analysis of Human Eccrine Sweat Glands Identifies Missing and Novel Proteins.Mol Cell Proteomics2019
30803905Decreased mRNA and protein stability of W1282X limits response to modulator therapy.J Cyst Fibros2019
28853905Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.Am J Respir Crit Care Med2018
29805046Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.Am J Hum Genet2018
30046002Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.JCI Insight2018
30444886Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.PLoS Genet2018
29581887Improving imputation in disease-relevant regions: lessons from cystic fibrosis.NPJ Genom Med2018
29580829Sweat test for cystic fibrosis: Wearable sweat sensor vs. standard laboratory test.J Cyst Fibros2018
29346418The relationship of lung function with ambient temperature.PLoS One2018
28674633Corrigendum: Novel variation at chr11p13 associated with cystic fibrosis lung disease severity.Hum Genome Var2017
28475858Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.Am J Hum Genet2017
28397312Lessons from the CAGI-4 Hopkins clinical panel challenge.Hum Mutat2017
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Collaborators

Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 16
Johanna M Rommens
The Hospital for Sick Children
Co-authored papers 16
Fred A Wright
Co-authored papers 12
Wanda K O'Neal
Co-authored papers 12
Yi-Hui Zhou
Co-authored papers 9
Stylianos E Antonarakis
Co-authored papers 9
Bruce A Stanton
Dartmouth College
Co-authored papers 8
Harry C Dietz
The Johns Hopkins University
Co-authored papers 7
Paul J Gallins
Co-authored papers 7
Wayne W Grody
David Geffen School of Medicine, university of california los angeles
Co-authored papers 7
Margaret Daniele Fallin
Co-authored papers 6
Carolyn Sue Richards
Oregon Health & Science University (OHSU)
Co-authored papers 6
Hua Ling
Chongqing Center for Disease Control and Prevention.
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Corinne Boehm
Johns Hopkins University School of Medicine
Co-authored papers 6
Michael J Bamshad
University of Washington
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Johan T den Dunnen
Leiden University Medical Center
Co-authored papers 5
Laura M Kasch
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David J Burn
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Stephanie Fulmer-Smentek
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Rachel Karchin
Johns Hopkins University
Co-authored papers 5
Clair A Francomano
Indiana University School of Medicine
Co-authored papers 5
Arleen D Auerbach
The Rockefeller University
Co-authored papers 5
Mauno Vihinen
Lund University
Co-authored papers 5
David J Cutler
Emory University School of Medicine
Co-authored papers 5
Michelle Huckaby Lewis
Berman Institute of Bioethics, Johns Hopkins University
Co-authored papers 4
Elizabeth E Blue
University of Washington
Co-authored papers 4
David N Cooper
Institute of Medical Genetics, Cardiff University
Co-authored papers 4
Lap-Chee Tsui
The University of Hong Kong
Co-authored papers 4
Terence R Flotte
Co-authored papers 4
Allison F McCague
Berman Institute of Bioethics, Johns Hopkins University
Co-authored papers 4
Release 1.2