CDC-Authored Genomics and Precision Health Publications Database
Rare Diseases
Last data update: May 12, 2025. (Total: 6675 publications)
| Query Trace: Cystic Fibrosis[original query] |
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| The relationship between the intestinal microbiome and body mass index in children with cystic fibrosis
Bernard R , Shilts MH , Strickland BA , Boone HH , Payne DC , Brown RF , Edwards K , Das SR , Nicholson MR . J Cyst Fibros 2023 |
| Infants with Congenital Disorders Identified Through Newborn Screening - United States, 2015-2017.
Sontag MK , Yusuf C , Grosse SD , Edelman S , Miller JI , McKasson S , Kellar-Guenther Y , Gaffney M , Hinton CF , Cuthbert C , Singh S , Ojodu J , Shapira SK . MMWR Morb Mortal Wkly Rep 2020 69 (36) 1265-1268 |
| Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing.
Hendrix MM , Cuthbert CD , Cordovado SK . Int J Neonatal Screen 2020 6 (2) 1-15 
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| Precision Medicine In Action: The Impact Of Ivacaftor On Cystic Fibrosis-Related Hospitalizations.
Feng LB , Grosse SD , Green RF , Fink AK , Sawicki GS . Health Aff (Millwood) 2018 37 (5) 773-779 
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| Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.
Hendrix MM , Foster SL , Cordovado SK . J Inborn Errors Metab Screen 2016 4 |
| Announcement: National Family History Day - November 24, 2016.
Centers for Disease Control and Prevention . MMWR Morb Mortal Wkly Rep 2016 65 (46) 1305
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| Public Health and Rare Diseases: Oxymoron No More.
Valdez R , Ouyang L , Bolen J . Prev Chronic Dis 2016 13 E05 |
| Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis.
Grosse SD . Healthcare (Basel) 2015 3 (4) 1133-1157 |
| Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Baker MW , Atkins AE , Cordovado SK , Hendrix M , Earley MC , Farrell PM . Genet Med 2015 18 (3) 231-8 |
| The draft genome sequence of the ferret (Mustela putorius furo) facilitates study of human respiratory disease.
Peng X , Alfoldi J , Gori K , Eisfeld AJ , Tyler SR , Tisoncik-Go J , Brawand D , Law GL , Skunca N , Hatta M , Gasper DJ , Kelly SM , Chang J , Thomas MJ , Johnson J , Berlin AM , Lara M , Russell P , Swofford R , Turner-Maier J , Young S , Hourlier T , Aken B , Searle S , Sun X , Yi Y , Suresh M , Tumpey TM , Siepel A , Wisely SM , Dessimoz C , Kawaoka Y , Birren BW , Lindblad-Toh K , Di Palma F , Engelhardt JF , Palermo RE , Katze MG . Nat Biotechnol 2014 32 (12) 1250-5 |
| Aspergillus collagen-like genes (acl): identification, sequence polymorphism, and assessment for PCR-based pathogen detection
Tuntevski K , Durney BC , Snyder AK , Lasala PR , Nayak AP , Green BJ , Beezhold DH , Rio RV , Holland LA , Lukomski S . Appl Environ Microbiol 2013 79 (24) 7882-95 |
| Clonally related Burkholderia contaminans among ventilated patients without cystic fibrosis
Peterson AE , Chitnis AS , Xiang N , Scaletta JM , Geist R , Schwartz J , Dement J , Lawlor E , Lipuma JJ , O'Connell H , Noble-Wang J , Kallen AJ , Hunt DC . Am J Infect Control 2013 41 (12) 1298-300 |
| Indigenous children from three countries with non-cystic fibrosis chronic suppurative lung disease/bronchiectasis
Singleton RJ , Valery PC , Morris P , Byrnes CA , Grimwood K , Redding G , Torzillo PJ , McCallum G , Chikoyak L , Mobberly C , Holman RC , Chang AB . Pediatr Pulmonol 2013 49 (2) 189-200 |
| CFTR mutation analysis and haplotype associations in CF patients.
Cordovado SK , Hendrix M , Greene CN , Mochal S , Earley MC , Farrell PM , Kharrazi M , Hannon WH , Mueller PW . Mol Genet Metab 2012 105 (2) 249-54 |
| Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening.
Earley MC , Laxova A , Farrell PM , Driscoll-Dunn R , Cordovado S , Mogayzel PJ Jr , Konstan MW , Hannon WH . Clin Chim Acta 2011 412 1376-81 |
| Evaluation of the validity and utility of genetic testing for rare diseases.
Grosse SD , Kalman L , Khoury MJ . Adv Exp Med Biol 2010 686 115-31
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| [The example of cystic fibrosis to highlight the complexity of genetic screening]
Bochud M , Fellmann F , Vader JP , Grosse S , Paccaud F , Guessous I . Rev Med Suisse 2010 6 (256) 1395-9 |
| Population screening for genetic disorders in the 21st century: evidence, economics, and ethics.
Grosse SD , Rogowski WH , Ross LF , Cornel MC , Dondorp WJ , Khoury MJ . Public Health Genomics 2010 13 (2) 106-15
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| Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing
Barker SD , Bale S , Booker J , Buller A , Das S , Friedman K , Godwin AK , Grody WW , Highsmith E , Kant JA , Lyon E , Mao R , Monaghan KG , Payne DA , Pratt VM , Schrijver I , Shrimpton AE , Spector E , Telatar M , Toji L , Weck K , Zehnbauer B , Kalman LV . J Mol Diagn 2009 11 (6) 553-61 |
| Analytic validity of cystic fibrosis testing: a preliminary estimate.
Palomaki Glenn E, Bradley Linda A, Richards C Sue, Haddow James E. Genetics in medicine : official journal of the American College of Medical Genetics 2003 5(1) 15-20 . Genetics in medicine : official journal of the American College of Medical Genetics 2003 5(1) 15-20
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| The impact of early cystic fibrosis diagnosis on pulmonary function in children.
Wang Sophia S, O'Leary Leslie A, Fitzsimmons Stacey C, Khoury Muin J. The Journal of pediatrics 2002 141(6) 804-10 . The Journal of pediatrics 2002 141(6) 804-10
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| Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians.
Palomaki Glenn E, Haddow James E, Bradley Linda A, FitzSimmons Stacey C. Genetics in medicine : official journal of the American College of Medical Genetics 2002 4(2) 90-4 . Genetics in medicine : official journal of the American College of Medical Genetics 2002 4(2) 90-4
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| Early diagnosis of cystic fibrosis.
Grosse S D, Khoury M J, Hannon W H, Boyle C A, Farrell P M. Pediatrics 2001 107(6) 1492 . Pediatrics 2001 107(6) 1492
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| Issues in implementing prenatal screening for cystic fibrosis: results of a working conference.
Haddow J E, Bradley L A, Palomaki G E, Doherty R A, Bernhardt B A, Brock D J, Cheuvront B, Cunningham G C, Donnenfeld A E, Erickson J L, Erlich H A, Ferrie R M, FitzSimmons S C, Greene M F, Grody W W, Haddow P K, Harris H, Holmes L B, Howell R R, Katz M, Klinger K W, Kloza E M, LeFevre M L, Little S, Loeben G, McGovern M, Pyeritz R E, Rowley P T, Saiki R K, Short M P, Tabone J, Wald N J, Wilker N L, Witt D R. Genetics in medicine : official journal of the American College of Medical Genetics 2001 1(4) 129-35 . Genetics in medicine : official journal of the American College of Medical Genetics 2001 1(4) 129-35
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| Early diagnosis of cystic fibrosis in the newborn period and risk of Pseudomonas aeruginosa acquisition in the first 10 years of life: A registry-based longitudinal study.
Wang S S, FitzSimmons S C, O'Leary L A, Rock M J, Gwinn M L, Khoury M J. Pediatrics 2001 107(2) 274-9 . Pediatrics 2001 107(2) 274-9
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| Increased frequency of cystic fibrosis among infants with jejunoileal atresia.
Roberts H E, Cragan J D, Cono J, Khoury M J, Weatherly M R, Moore C A. American journal of medical genetics 1998 78(5) 446-9 . American journal of medical genetics 1998 78(5) 446-9
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| Newborn screening for cystic fibrosis: a paradigm for public health genetics policy development. Proceedings of a 1997 workshop.
. MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports 1997 46(RR-16) 1-24 . MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports 1997 46(RR-16) 1-24
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- Page last reviewed:Feb 1, 2024
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