المؤلفون: Karen S. Raraigh, Kathleen C. Paul, Jennifer L. Goralski, Erin N. Worthington, Anna V. Faino, Stanley Sciortino, Yiting Wang, Melis A. Aksit, Hua Ling, Derek L. Osorio, Frankline M. Onchiri, Shivani U. Patel, Christian A. Merlo, Kristina Montemayor, Ronald L. Gibson, Natalie E. West, Amita Thakerar, Robert J. Bridges, David N. Sheppard, Neeraj Sharma, Garry R. Cutting

المصدر: JCI Insight, Vol 7, Iss 6 (2022)

مصطلحات موضوعية: Genetics, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-3708

URL الوصول: https://doaj.org/article/78b4738b6909425d927439919d715df3

المؤلفون: Chirag Krishna, Joshua Chiou, Saori Sakaue, Joyce B. Kang, Stephen M. Christensen, Isac Lee, Melis Atalar Aksit, Hye In Kim, David von Schack, Soumya Raychaudhuri, Daniel Ziemek, Xinli Hu

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/68deecd756d04f759f1d94d794e8cfa3

المؤلفون: Yi-Hui Zhou, Paul J. Gallins, Rhonda G. Pace, Hong Dang, Melis A. Aksit, Elizabeth E. Blue, Kati J. Buckingham, Joseph M. Collaco, Anna V. Faino, William W. Gordon, Kurt N. Hetrick, Hua Ling, Weifang Liu, Frankline M. Onchiri, Kymberleigh Pagel, Elizabeth W. Pugh, Karen S. Raraigh, Margaret Rosenfeld, Quan Sun, Jia Wen, Yun Li, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Scott M. Blackman, Garry R. Cutting, Ronald L. Gibson, Wanda K. O’Neal, Fred A. Wright, Michael R. Knowles

المصدر: American Journal of Respiratory and Critical Care Medicine. 207:1324-1333

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Critical Care and Intensive Care Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d8a88ca30acf5dd09840564e633fef49
https://doi.org/10.1164/rccm.202209-1653oc

المؤلفون: Anya T Joynt, Taylor A Evans, Matthew J Pellicore, Emily F Davis-Marcisak, Melis A Aksit, Alice C Eastman, Shivani U Patel, Kathleen C Paul, Derek L Osorio, Alyssa D Bowling, Calvin U Cotton, Karen S Raraigh, Natalie E West, Christian A Merlo, Garry R Cutting, Neeraj Sharma

المصدر: PLoS Genetics, Vol 16, Iss 10, p e1009100 (2020)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/d474085b9069492aac9a9a9d1b71d72f

المؤلفون: Karen S. Raraigh, Wanda K. O'Neal, Michael R. Knowles, Michael J. Bamshad, Yi-Hui Zhou, Elizabeth Blue, Garry R. Cutting, Ronald L. Gibson, Melis A. Aksit, Hua Ling, Kurt N. Hetrick, Rhonda G. Pace, Scott M. Blackman

المصدر: Journal of Cystic Fibrosis. 21:463-470

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Genetics, Whole genome sequencing, Cystic Fibrosis, Genotype, business.industry, Cystic Fibrosis Transmembrane Conductance Regulator, medicine.disease, Genome, Cystic fibrosis, DNA sequencing, Cohort Studies, Mutation, Pediatrics, Perinatology and Child Health, medicine, Humans, Coding region, Allele, business, Gene, Alleles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a409da7f5676649f85837adef4c37f67
https://doi.org/10.1016/j.jcf.2021.10.011

المؤلفون: Neeraj Sharma, Taylor A Evans, Matthew J Pellicore, Emily Davis, Melis A Aksit, Allison F McCague, Anya T Joynt, Zhongzhu Lu, Sangwoo T Han, Arianna F Anzmann, Anh-Thu N Lam, Abigail Thaxton, Natalie West, Christian Merlo, Laura B Gottschalk, Karen S Raraigh, Patrick R Sosnay, Calvin U Cotton, Garry R Cutting

المصدر: PLoS Genetics, Vol 14, Iss 11, p e1007723 (2018)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/c0c6949dd9f04b7d817e9247c8d75a77

المؤلفون: Melis Atalar Aksit, Joseph M. Collaco, Scott M. Blackman, Margaret Rosenfeld, Yi-Hui Zhou, Elizabeth E. Blue, Karen S. Raraigh, Garry R. Cutting, Frankline Onchiri, Michael R. Knowles, William W. Gordon, Ronald L. Gibson, Michael J. Bamshad, Anna V. Faino, Rhonda G. Pace

المصدر: Journal of Cystic Fibrosis. 21:40-44

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Gold standard, EPIC, medicine.disease, Cystic fibrosis, Chronic infection, Pseudomonas infection, Internal medicine, Pediatrics, Perinatology and Child Health, Cohort, medicine, Observational study, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c96a581b26bab39607beb56c88939401
https://doi.org/10.1016/j.jcf.2021.07.020

المؤلفون: Kathryn A. Carson, Garry R. Cutting, Joseph M. Collaco, Peter J. Mogayzel, Pamela L. Zeitlin, Melis A. Aksit, Vanessa L. Richardson, Beth L. Laube, Christopher M. Evans, Gail Sharpless

المصدر: Pediatric Research. 91:612-620

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Mucociliary clearance, food and beverages, Lung Clearance Index, Lung pathology, medicine.disease, Gastroenterology, Cystic fibrosis, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Breathing, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3f25f1a0c23cf661cda1d4e697ab12e2
https://doi.org/10.1038/s41390-021-01453-2

المؤلفون: Karen S. Raraigh, Steven S. An, Melis Atalar Aksit, Nicholas M. Dalesio, Joseph M. Collaco, Sharon A. McGrath-Morrow, Kwangmi Ahn, Garry R. Cutting, Pamela L. Zeitlin

المصدر: Int Forum Allergy Rhinol

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Cystic Fibrosis, Nasal Surgical Procedures, Cystic Fibrosis Transmembrane Conductance Regulator, Disease, Cystic fibrosis, Gastroenterology, Article, Receptors, G-Protein-Coupled, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Paranasal Sinuses, medicine, Humans, Immunology and Allergy, Sinusitis, Young adult, Child, 030223 otorhinolaryngology, Sinus (anatomy), Retrospective Studies, biology, business.industry, Haplotype, Infant, Retrospective cohort study, Middle Aged, medicine.disease, Cystic fibrosis transmembrane conductance regulator, medicine.anatomical_structure, Haplotypes, 030228 respiratory system, Otorhinolaryngology, Child, Preschool, biology.protein, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7dbc3b1d854e8e3be1e1496bc94ec19
https://doi.org/10.1002/alr.22548

المؤلفون: Melis A. Aksit, Bo Yu, Bernard A. J. Roelen, Barbara R. Migeon

المصدر: European Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6a5ffebe03f2b009c8218076827a5c0f
https://doi.org/10.1038/s41431-022-01115-9

المؤلفون: Melis A. Aksit, Hua Ling, Rhonda G. Pace, Karen S. Raraigh, Frankline Onchiri, Anna V. Faino, Kymberleigh Pagel, Elizabeth Pugh, Adrienne M. Stilp, Quan Sun, Elizabeth E. Blue, Fred A. Wright, Yi-Hui Zhou, Michael J. Bamshad, Ronald L. Gibson, Michael R. Knowles, Garry R. Cutting, Scott M. Blackman, Elizabeth Blue, Kati Buckingham, Jessica X. Chong, J. Michael Collaco, Hong Dang, Alice Eastman, Anna Faino, Paul J. Gallins, Ronald Gibson, Beth Godwin, William W. Gordon, Kurt Hetrick, Le Huang, Anh-Thu N. Lam, Weifang Liu, Yun Li, Wanda K. O'Neal, Mark Porter, Rebekah Mikeasky, Margaret Rosenfeld, Jonathan Rosen, Adrienne Stilp, Jaclyn R. Stonebraker, Jia Wen, Yingxi Yang, Peng Zhang, Yan Zhang

المصدر: Am J Hum Genet

مصطلحات موضوعية: Cystic Fibrosis, Genetics, Diabetes Mellitus, Infant, Newborn, Cystic Fibrosis Transmembrane Conductance Regulator, Humans, Genetics (clinical), Infant, Newborn, Diseases, Intestinal Obstruction, Article, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d09c34d6790eb0f5198d0a02cc3acfb
https://pubmed.ncbi.nlm.nih.gov/36206743

المؤلفون: Melis A, Aksit, Bo, Yu, Bernard A J, Roelen, Barbara R, Migeon

المصدر: European journal of human genetics : EJHG.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::63ef4a8366a0d234185d156e58e8bbda
https://pubmed.ncbi.nlm.nih.gov/35585273

المؤلفون: Joshua Betz, Molly B. Sheridan, Gretchen MacCarrick, Hilary J. Vernon, Jordan Brown, Terri H. Beaty, Melis A. Aksit, Thomas A. Louis, Karen S. Raraigh, Nenad Blau, Harry C. Dietz, Garry R. Cutting, Joseph M. Collaco, Lawrence M. Nogee

المساهمون: University of Zurich, Cutting, Garry R

المصدر: Genet Med

مصطلحات موضوعية: Genetics, 2716 Genetics (clinical), education.field_of_study, Receiver operating characteristic, biology, Variant type, Bayesian probability, Population, Mutation, Missense, 610 Medicine & health, Bayes Theorem, Cystic fibrosis transmembrane conductance regulator, Article, symbols.namesake, ROC Curve, 10036 Medical Clinic, Mendelian inheritance, symbols, biology.protein, Missense mutation, Humans, education, Gene, Genetics (clinical), Algorithms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e28db45200494254fc0d27fabe5ab2d0
https://europepmc.org/articles/PMC10280479/

المؤلفون: Johanna M. Rommens, Pierre-Yves Boëlle, Scott M. Blackman, Hua Ling, Harriet Corvol, Lisa J. Strug, Loïc Guillot, Rhonda G. Pace, Garry R. Cutting, Briana Vecchio-Pagan, Michael R. Knowles, Mitch Drumm, Peng Zhang, Elizabeth W. Pugh, Karen S. Raraigh, Melis A. Aksit

المصدر: J Clin Endocrinol Metab

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, endocrine system diseases, Adolescent, Cystic Fibrosis, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, Cystic fibrosis-related diabetes, 030209 endocrinology & metabolism, Genome-wide association study, Type 2 diabetes, Bioinformatics, Biochemistry, Cohort Studies, Young Adult, 03 medical and health sciences, Diabetes mellitus genetics, Quantitative Trait, Heritable, 0302 clinical medicine, Endocrinology, Risk Factors, Internal medicine, Diabetes mellitus, Diabetes Mellitus, medicine, Humans, Genetic Predisposition to Disease, Child, education, 030304 developmental biology, Clinical Research Article, 0303 health sciences, Type 1 diabetes, education.field_of_study, Genes, Modifier, business.industry, Biochemistry (medical), nutritional and metabolic diseases, medicine.disease, Diabetes Mellitus, Type 2, Female, France, business, TCF7L2, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20fa8ae65685a83c566a25a19414afe8
https://doi.org/10.1210/clinem/dgz102

المؤلفون: Alice C. Eastman, Garry R. Cutting, Scott M. Blackman, Rhonda G. Pace, Briana Vecchio-Pagan, Wanda K. O'Neal, Michael R. Knowles, Hong Dang, Anh Thu N. Lam, Melis Atalar Aksit

المصدر: J Cyst Fibros

مصطلحات موضوعية: 0301 basic medicine, Pulmonary and Respiratory Medicine, Oncology, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Cystic Fibrosis, Genotype, Cystic Fibrosis Transmembrane Conductance Regulator, Quinolones, Aminophenols, Cystic fibrosis, Polymorphism, Single Nucleotide, Severity of Illness Index, Article, Antiporters, Ivacaftor, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Pharmacotherapy, Internal medicine, Medicine, SNP, Humans, Prospective Studies, Lung function, business.industry, medicine.disease, Respiratory Function Tests, 030104 developmental biology, 030228 respiratory system, Lung disease, Sulfate Transporters, Pediatrics, Perinatology and Child Health, Female, business, Cftr modulator, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::114b113925a45e51523a6a00f53fa3d5
https://europepmc.org/articles/PMC8410892/

المؤلفون: Garry R. Cutting, Matthew J. Pellicore, Taylor A. Evans, Derek L. Osorio, Neeraj Sharma, Natalie E. West, Calvin U. Cotton, Shivani U. Patel, Kathleen C. Paul, Emily F. Davis-Marcisak, Anya T. Joynt, Melis A. Aksit, Alyssa D. Bowling, Alice C. Eastman, Karen S. Raraigh, Christian A. Merlo

المصدر: PLoS Genetics, Vol 16, Iss 10, p e1009100 (2020)
PLoS Genetics

مصطلحات موضوعية: Cancer Research, RNA splicing, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Artificial Gene Amplification and Extension, QH426-470, Biochemistry, Polymerase Chain Reaction, Exon, 0302 clinical medicine, Amino Acids, Precision Medicine, Genetics (clinical), 0303 health sciences, Nucleotides, Organic Compounds, Messenger RNA, Genomics, Exons, Nucleic acids, Chemistry, Bioassays and Physiological Analysis, Physical Sciences, Muscle Electrophysiology, Research Article, Primary Cell Culture, Computational biology, Biology, Research and Analysis Methods, Genome Complexity, 03 medical and health sciences, Chlorides, Genetics, Humans, splice, RNA, Messenger, Allele, Molecular Biology Techniques, Molecular Biology, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Biology and life sciences, Mechanism (biology), Electromyography, Electrophysiological Techniques, Organic Chemistry, Intron, Chemical Compounds, RNA, Computational Biology, Proteins, Genetic Variation, Reverse Transcriptase-Polymerase Chain Reaction, Introns, Alternative Splicing, Nasal Mucosa, HEK293 Cells, RNA processing, Amino Acid Substitution, Gene expression, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d281c43dc43dab5906a20352a645ca
https://doaj.org/article/d474085b9069492aac9a9a9d1b71d72f

المؤلفون: Beth L, Laube, Kathryn A, Carson, Christopher M, Evans, Melis A, Aksit, Joseph M, Collaco, Vanessa L, Richardson, Gail, Sharpless, Pamela L, Zeitlin, Garry R, Cutting, Peter J, Mogayzel

المصدر: Pediatric research. 91(3)

مصطلحات موضوعية: Cystic Fibrosis, Mucociliary Clearance, Child, Preschool, Respiration, Humans, Child, Lung, Respiratory Function Tests

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3b0f4e1ba15efd07d0ee22dc77a7f629
https://pubmed.ncbi.nlm.nih.gov/33753897

المؤلفون: J. Michael Wells, Melis Atalar Aksit, Garry R. Cutting, S. Vamsee Raju, Karen S. Raraigh, Steven M. Rowe, Lawrence Rasmussen, Surya P. Bhatt, P. Hrudaya Nath, Mark T. Dransfield, Krittika Teerapuncharoen, George M. Solomon

المصدر: Annals of the American Thoracic Society. 16:150-153

مصطلحات موضوعية: Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Cystic Fibrosis, Cross-sectional study, Radiography, Cystic Fibrosis Transmembrane Conductance Regulator, Gastroenterology, Pulmonary Disease, Chronic Obstructive, Internal medicine, Humans, Medicine, Letters, Aged, Bronchiectasis, biology, business.industry, Smoking, Middle Aged, Former Smoker, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Cross-Sectional Studies, biology.protein, Female, Tomography, X-Ray Computed, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb0079ce460619ecaac2a0f999b600f
https://doi.org/10.1513/annalsats.201805-325rl

المؤلفون: Elizabeth Blue, F. Wright, Garry R. Cutting, A. Stilp, Yi-Hui Zhou, F. Onchiri, Ronald L. Gibson, K. Pagel, Melis Atalar Aksit, Anna V. Faino, Scott M. Blackman, Karen S. Raraigh, Michael R. Knowles, E. Pugh, Rhonda G. Pace, Michael J. Bamshad, Hua Ling

المصدر: Journal of Cystic Fibrosis. 20:S310

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, Cystic fibrosis-related diabetes, Medicine, Meconium Ileus, Missense mutation, business, medicine.disease, Cystic fibrosis, Gastroenterology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bf829ab1dfac4de8cc701cd778f518aa
https://doi.org/10.1016/s1569-1993(21)02077-4

المؤلفون: Celeste Shelton, Scott M. Blackman, Derek L. Osorio, Anh Thu N. Lam, Garry R. Cutting, Melis A. Aksit, Loyal A. Goff, Briana Vecchio-Pagan, Arianna F. Anzmann, David C. Whitcomb

المصدر: The Journal of clinical investigation. 130(1)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Cystic Fibrosis, Ductal cells, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, Deep sequencing, Antiporters, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Internal medicine, Diabetes Mellitus, Medicine, Humans, RNA-Seq, Gene, Transcription factor, business.industry, Haplotype, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Haplotypes, Sulfate Transporters, 030220 oncology & carcinogenesis, Female, business, Pancreas, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6893ede81916b6774507e97319e6af96
https://pubmed.ncbi.nlm.nih.gov/31581148