K. Raraigh

发表

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies

C. Merlo, G. Cutting, N. Sharma, 2020, PLoS genetics.

Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.

Rachel Karchin, David L Masica, R. Karchin, 2015, Human molecular genetics.

The future of cystic fibrosis care: a global perspective.

C. Goss, P. Burgel, M. Macek, 2020, The Lancet. Respiratory medicine.

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

G. Cutting, Molly B. Sheridan, P. Sosnay, 2018, American journal of human genetics.

Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California

P. Sosnay, K. Raraigh, T. Keens, 2016, PloS one.

Genetic counseling access for parents of newborns who screen positive for cystic fibrosis: Consensus guidelines

R. Parad, K. Raraigh, E. Langfelder-Schwind, 2021, Pediatric pulmonology.

DNA sequencing analysis of cystic fibrosis transmembrane conductance regulator gene identifies cystic fibrosis‐associated variants in the Severe Asthma Research Program

E. Bleecker, D. Mauger, S. Wenzel, 2022, Pediatric pulmonology.

Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results

Carolyn D Applegate, K. Raraigh, C. Berrios, 2018, Journal of Genetic Counseling.

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.

H. Ishiguro, M. Amaral, P. Sosnay, 2017, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Comparing encounter-based and annualized chronic pseudomonas infection definitions in cystic fibrosis.

R. Gibson, M. Rosenfeld, M. Bamshad, 2021, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study

G. Cutting, K. Raraigh, S. Paranjape, 2014, BMC Pulmonary Medicine.

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

M. Rosenfeld, M. Bamshad, K. Hetrick, 2022, American journal of human genetics.

Bias in CFTR screening panels

M. Corey, J. Rommens, G. Cutting, 2015, Genetics in Medicine.

Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

M. Corey, J. Rommens, G. Cutting, 2019, American journal of respiratory and critical care medicine.

Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen‐positive diagnostic resolution process

R. Parad, K. Raraigh, E. Langfelder-Schwind, 2019, Journal of genetic counseling.

The increasing challenge of genetic counseling for cystic fibrosis.

K. Raraigh, K. Southern, Kimberly Wallis, 2019, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.

Karen L. Robinson, C. Castellani, K. Raraigh, 2022, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Correlating CFTR Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

M. Corey, J. Rommens, G. Cutting, 2019 .

Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

G. Cutting, A. Joynt, T. Evans, 2018, JCI insight.

Informed consent for exome sequencing research in families with genetic disease: The emerging issue of incidental findings

A. Telegrafi, K. Raraigh, C. Blout, 2014, American journal of medical genetics. Part A.

Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis

K. Ahn, G. Cutting, M. Aksit, 2020, International forum of allergy & rhinology.

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

G. Cutting, M. Knowles, N. Sharma, 2016, Human Genome Variation.

Genetic modifiers of cystic fibrosis-related diabetes have extensive overlap with type 2 diabetes and related traits.

J. Rommens, M. Drumm, E. Pugh, 2019, The Journal of clinical endocrinology and metabolism.

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis

J. Rommens, M. Drumm, F. Wright, 2015, Nature Communications.

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

W. Sly, Sarah M Robbins, G. Cutting, 2016, Human molecular genetics.

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

Briana Vecchio-Pagan, S. E. Stanley, G. Cutting, 2017, American journal of human genetics.

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis

C. Merlo, G. Cutting, P. Sosnay, 2018, PLoS genetics.

Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

R. Karchin, C. Douville, G. Cutting, 2014, Human mutation.

Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses

P. Sosnay, C. Castellani, K. Raraigh, 2017, The Journal of pediatrics.

Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants.

M. Corey, J. Rommens, M. Lewis, 2022, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

CFTR variants are associated with chronic bronchitis in smokers

A. Díaz, M. Cho, C. Hersh, 2022, European Respiratory Journal.

CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor

C. Merlo, S. Sciortino, H. Ling, 2022, JCI insight.

Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.

P. Sosnay, K. Raraigh, T. Keens, 2015, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.

M. Bamshad, K. Hetrick, Yi‐Hui Zhou, 2021, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Diagnosis and Treatment of Cystic Fibrosis: A (Not-so) Simple Recessive Condition

K. Raraigh, L. Greene, B. Ramsey, 2017, Current Genetic Medicine Reports.

Predictive effects of low birth weight and small for gestational age status on respiratory and nutritional outcomes in cystic fibrosis.

G. Cutting, K. Raraigh, J. Collaco, 2020, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.

J. Rommens, P. Boelle, L. Strug, 2016, American journal of respiratory and critical care medicine.

Respiratory pathogens mediate the association between lung function and temperature in cystic fibrosis.

L. Appel, G. Cutting, K. Raraigh, 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Accurate assignment of disease liability to genetic variants using only population data

T. Louis, T. Beaty, H. Dietz, 2021, bioRxiv.

Cat and dog exposure and respiratory morbidities in cystic fibrosis.

G. Cutting, K. Raraigh, J. Collaco, 2014, The Journal of pediatrics.

In Vitro Modulator Responsiveness of 655 CFTR Variants Found in People With CF

A. Sivachenko, G. Cutting, L. Millen, 2023, bioRxiv.

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

M. Rosenfeld, M. Bamshad, Yun Li, 2023, American journal of respiratory and critical care medicine.

Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype.

R. Gibson, P. Sosnay, K. Raraigh, 2016, Pediatric clinics of North America.

Exploring parental cystic fibrosis disclosure to well children

K. Raraigh, S. Riley, Julie Frank, 2022, Journal of genetic counseling.

Acquired Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction and Radiographic Bronchiectasis in Current and Former Smokers: A Cross‐Sectional Study

J. Wells, M. Dransfield, G. Cutting, 2019, Annals of the American Thoracic Society.

Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).

Joshua L. Deignan, W. Grody, H. Kearney, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells

Gregory A. Newby, C. Merlo, N. Sharma, 2023, Molecular therapy. Nucleic acids.

Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis.

K. Raraigh, S. van Koningsbruggen-Rietschel, N. Simmonds, 2023, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.

K. Raraigh, A. Tluczek, S. Hempstead, 2024, Pediatrics.

In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis.

A. Sivachenko, L. Millen, K. Raraigh, 2024, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

The clinical utility of sequencing the entirety of CFTR.

K. Hetrick, K. Buckingham, M. Aksit, 2024, Journal of Cystic Fibrosis.

Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.

K. Raraigh, D. Conrad, B. Bailey, 2022, Annals of the American Thoracic Society.

Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor

K. Raraigh, Hongyu Li, Sangwoo T Han, 2024, The Journal of physiology.