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Connection

Scott Sagel to Mutation

This is a "connection" page, showing publications Scott Sagel has written about Mutation.

 
Connection Strength
 
 
 
1.151
 
  1. Hoppe JE, Wagner BD, Kirk Harris J, Rowe SM, Heltshe SL, DeBoer EM, Sagel SD. Effects of ivacaftor on systemic inflammation and the plasma proteome in people with CF and G551D. J Cyst Fibros. 2022 11; 21(6):950-958.
    View in: PubMed
    Score: 0.096
  2. Martiniano SL, Croak K, Bonn G, Sontag MK, Sagel SD. Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs. Mol Genet Metab. 2021 Sep-Oct; 134(1-2):65-67.
    View in: PubMed
    Score: 0.092
  3. Sagel SD, Khan U, Heltshe SL, Clancy JP, Borowitz D, Gelfond D, Donaldson SH, Moran A, Ratjen F, VanDalfsen JM, Rowe SM. Clinical Effectiveness of Lumacaftor/Ivacaftor in Patients with Cystic Fibrosis Homozygous for F508del-CFTR. A Clinical Trial. Ann Am Thorac Soc. 2021 01; 18(1):75-83.
    View in: PubMed
    Score: 0.088
  4. Harris JK, Wagner BD, Zemanick ET, Robertson CE, Stevens MJ, Heltshe SL, Rowe SM, Sagel SD. Changes in Airway Microbiome and Inflammation with Ivacaftor Treatment in Patients with Cystic Fibrosis and the G551D Mutation. Ann Am Thorac Soc. 2020 02; 17(2):212-220.
    View in: PubMed
    Score: 0.083
  5. Guimbellot J, Solomon GM, Baines A, Heltshe SL, VanDalfsen J, Joseloff E, Sagel SD, Rowe SM. Effectiveness of ivacaftor in cystic fibrosis patients with non-G551D gating mutations. J Cyst Fibros. 2019 01; 18(1):102-109.
    View in: PubMed
    Score: 0.073
  6. Sontag MK, Lee R, Wright D, Freedenberg D, Sagel SD. Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis. J Pediatr. 2016 08; 175:150-158.e1.
    View in: PubMed
    Score: 0.064
  7. Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, Milla C, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer JP, Hazucha MJ, Cooper ML, Knowles MR, Leigh MW. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med. 2015 Feb 01; 191(3):316-24.
    View in: PubMed
    Score: 0.058
  8. Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, Sagel SD, Milla C, Zariwala MA, Wolf W, Carson JL, Hazucha MJ, Burns K, Robinson B, Knowles MR, Leigh MW. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest. 2014 Nov; 146(5):1176-1186.
    View in: PubMed
    Score: 0.057
  9. Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med. 2014 Mar 15; 189(6):707-17.
    View in: PubMed
    Score: 0.055
  10. Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet. 2013 Oct 03; 93(4):711-20.
    View in: PubMed
    Score: 0.053
  11. Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat. 2013 Mar; 34(3):462-72.
    View in: PubMed
    Score: 0.051
  12. Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2013 Jan 10; 92(1):99-106.
    View in: PubMed
    Score: 0.050
  13. Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax. 2012 May; 67(5):433-41.
    View in: PubMed
    Score: 0.047
  14. Schwarzenberg SJ, Vu PT, Skalland M, Hoffman LR, Pope C, Gelfond D, Narkewicz MR, Nichols DP, Heltshe SL, Donaldson SH, Frederick CA, Kelly A, Pittman JE, Ratjen F, Rosenfeld M, Sagel SD, Solomon GM, Stalvey MS, Clancy JP, Rowe SM, Freedman SD. Elexacaftor/tezacaftor/ivacaftor and gastrointestinal outcomes in cystic fibrosis: Report of promise-GI. J Cyst Fibros. 2023 03; 22(2):282-289.
    View in: PubMed
    Score: 0.025
  15. Gabel ME, Wang H, Gelfond D, Roach C, Rowe SM, Clancy JP, Sagel SD, Borowitz D. Changes in Glucose Breath Test in Cystic Fibrosis Patients Treated With 1 Month of Lumacaftor/Ivacaftor. J Pediatr Gastroenterol Nutr. 2022 07 01; 75(1):42-47.
    View in: PubMed
    Score: 0.024
  16. Nichols DP, Paynter AC, Heltshe SL, Donaldson SH, Frederick CA, Freedman SD, Gelfond D, Hoffman LR, Kelly A, Narkewicz MR, Pittman JE, Ratjen F, Rosenfeld M, Sagel SD, Schwarzenberg SJ, Singh PK, Solomon GM, Stalvey MS, Clancy JP, Kirby S, Van Dalfsen JM, Kloster MH, Rowe SM. Clinical Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor in People with Cystic Fibrosis: A Clinical Trial. Am J Respir Crit Care Med. 2022 03 01; 205(5):529-539.
    View in: PubMed
    Score: 0.024
  17. Guimbellot JS, Baines A, Paynter A, Heltshe SL, VanDalfsen J, Jain M, Rowe SM, Sagel SD. Long term clinical effectiveness of ivacaftor in people with the G551D CFTR mutation. J Cyst Fibros. 2021 03; 20(2):213-219.
    View in: PubMed
    Score: 0.022
  18. Moheet A, Beisang D, Zhang L, Sagel SD, VanDalfsen JM, Heltshe SL, Frederick C, Mann M, Antos N, Billings J, Rowe SM, Moran A. Lumacaftor/ivacaftor therapy fails to increase insulin secretion in F508del/F508del CF patients. J Cyst Fibros. 2021 03; 20(2):333-338.
    View in: PubMed
    Score: 0.022
  19. Shaw M, Khan U, Clancy JP, Donaldson SH, Sagel SD, Rowe SM, Ratjen F. Changes in LCI in F508del/F508del patients treated with lumacaftor/ivacaftor: Results from the prospect study. J Cyst Fibros. 2020 11; 19(6):931-933.
    View in: PubMed
    Score: 0.021
  20. Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med. 2019 01 15; 199(2):190-198.
    View in: PubMed
    Score: 0.019
  21. Li A, Vigers T, Pyle L, Zemanick E, Nadeau K, Sagel SD, Chan CL. Continuous glucose monitoring in youth with cystic fibrosis treated with lumacaftor-ivacaftor. J Cyst Fibros. 2019 01; 18(1):144-149.
    View in: PubMed
    Score: 0.019
  22. Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, Sagel SD, Milla C, Olivier KN, Sullivan KM, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer J, Hazucha MJ, Knowles MR. Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. Ann Am Thorac Soc. 2016 08; 13(8):1305-13.
    View in: PubMed
    Score: 0.016
  23. Martiniano SL, Sagel SD, Zemanick ET. Cystic fibrosis: a model system for precision medicine. Curr Opin Pediatr. 2016 06; 28(3):312-7.
    View in: PubMed
    Score: 0.016
  24. Rowe SM, Heltshe SL, Gonska T, Donaldson SH, Borowitz D, Gelfond D, Sagel SD, Khan U, Mayer-Hamblett N, Van Dalfsen JM, Joseloff E, Ramsey BW. Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis. Am J Respir Crit Care Med. 2014 Jul 15; 190(2):175-84.
    View in: PubMed
    Score: 0.014
  25. Martiniano SL, Hoppe JE, Sagel SD, Zemanick ET. Advances in the diagnosis and treatment of cystic fibrosis. Adv Pediatr. 2014 Aug; 61(1):225-43.
    View in: PubMed
    Score: 0.014
  26. Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Am J Hum Genet. 2013 Oct 03; 93(4):672-86.
    View in: PubMed
    Score: 0.013
  27. Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, K?hler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet. 2013 Aug 08; 93(2):336-45.
    View in: PubMed
    Score: 0.013
  28. Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, Durie PR, Sagel SD, Hornick DB, Konstan MW, Donaldson SH, Moss RB, Pilewski JM, Rubenstein RC, Uluer AZ, Aitken ML, Freedman SD, Rose LM, Mayer-Hamblett N, Dong Q, Zha J, Stone AJ, Olson ER, Ordo?ez CL, Campbell PW, Ashlock MA, Ramsey BW. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N Engl J Med. 2010 Nov 18; 363(21):1991-2003.
    View in: PubMed
    Score: 0.011
  29. Laguna TA, Sagel SD, Sontag MK, Accurso FJ. The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P. J Cyst Fibros. 2008 Sep; 7(5):454-6.
    View in: PubMed
    Score: 0.009
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