المؤلفون: Zeiger, Andrew M, McGarry, Meghan E, Mak, Angel CY, Medina, Vivian, Salazar, Sandra, Eng, Celeste, Liu, Amy K, Oh, Sam S, Nuckton, Thomas J, Jain, Deepti, Blackwell, Thomas W, Kang, Hyun Min, Abecasis, Goncalo, Oñate, Leandra Cordero, Seibold, Max A, Burchard, Esteban G, Rodriguez‐Santana, Jose

المصدر: Pediatric Pulmonology. 55(2)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Cystic Fibrosis, Rare Diseases, Clinical Research, Genetics, Lung, Congenital, Good Health and Well Being, Adolescent, Base Sequence, Black People, Cystic Fibrosis Transmembrane Conductance Regulator, Dominican Republic, Female, Hispanic or Latino, Humans, Male, Puerto Rico, White People, CFTR variants, health disparities, Latino, whole genome sequencing, Paediatrics and Reproductive Medicine, Respiratory System, Cardiovascular medicine and haematology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9r35v9zbTest

المؤلفون: Zeiger, Andrew M., McGarry, Meghan E., Mak, Angel C. Y., Medina, Vivian, Salazar, Sandra, Eng, Celeste, Liu, Amy K., Oh, Sam S., Nuckton, Thomas J., Jain, Deepti, Blackwell, Thomas W., Kang, Hyun Min, Abecasis, Goncalo, Oñate, Leandra Cordero, Seibold, Max A., Burchard, Esteban G., Rodriguez‐santana, Jose

مصطلحات موضوعية: whole genome sequencing, Latino, CFTR variants, health disparities, Pediatrics, Health Sciences

وصف الملف: application/pdf

العلاقة: Zeiger, Andrew M.; McGarry, Meghan E.; Mak, Angel C. Y.; Medina, Vivian; Salazar, Sandra; Eng, Celeste; Liu, Amy K.; Oh, Sam S.; Nuckton, Thomas J.; Jain, Deepti; Blackwell, Thomas W.; Kang, Hyun Min; Abecasis, Goncalo; Oñate, Leandra Cordero; Seibold, Max A.; Burchard, Esteban G.; Rodriguez‐santana, Jose (2020). "Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico." Pediatric Pulmonology 55(2): 533-540.; https://hdl.handle.net/2027.42/153634Test; Pediatric Pulmonology; Wong LJC, Wang J, Zhang YH, et al. Improved detection of CFTR mutations in southern California Hispanic CF patients. Hum Mutat. 2001; 18 ( 4 ): 296 â 307.; Schrijver I, Pique L, Graham S, Pearl M, Cherry A, Kharrazi M. The spectrum of CFTR variants in nonâ White cystic fibrosis patients. J Mol Diagn. 2016; 18 ( 1 ): 39 â 50.; Palomaki GE, FitzSimmons SC, Haddow JE. Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet Med. 2004; 6 ( 5 ): 405 â 414.; Stewart C, Pepper MS. Cystic fibrosis in the African diaspora. Ann Am Thorac Soc. 2017; 14 ( 1 ): 1 â 7.; Morenoâ Estrada A, Gravel S, Zakharia F, et al. Reconstructing the population genetic history of the Caribbean. PLoS Genet. 2013; 9 ( 11 ): e1003925.; Farrell PM, White TB, Ren CL, et al. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017; 181: S4 â S15.e1.; Taliun D, Harris DN, Kessler MD, et al. Sequencing of 53â 831 diverse genomes from the NHLBI TOPMed Program. bioRxiv. 2019; Taliun, Daniel, et al. "Sequencing of 53â 831 diverse genomes from the NHLBI TOPMed Program. BioRxiv. 2019: 563866.; Richards S, Aziz N, Bale S, et al. 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A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics. 2011; 27 ( 21 ): 2987 â 2993.; Alonso MJ, Heineâ Suñer D, Calvo M, et al. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet. 2007; 71 ( 2 ): 194 â 201.; Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA. CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med. 2004; 6 ( 5 ): 392 â 399.; Grebe TA, Seltzer WK, DeMarchi J, et al. Genetic analysis of Hispanic individuals with cystic fibrosis. Am J Hum Genet. 1994; 54 ( 3 ): 443 â 446.; Groman JD, Cutting GR. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. N Engl J Med. 2002; 347 ( 6 ): 401 â 407.; Mekus F, Ballmann M, Bronsveld I, et al. 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الإتاحة: https://doi.org/10.1002/ppul.24549Test
https://hdl.handle.net/2027.42/153634Test

المؤلفون: Zeiger, Andrew M., McGarry, Meghan E., Mak, Angel C. Y., Medina, Vivian, Salazar, Sandra, Eng, Celeste, Liu, Amy K., Oh, Sam S., Nuckton, Thomas J., Jain, Deepti, Blackwell, Thomas W., Kang, Hyun Min, Abecasis, Goncalo, Oñate, Leandra Cordero, Seibold, Max A., Burchard, Esteban G., Rodriguez‐Santana, Jose

المساهمون: National Institute of Environmental Health Sciences, Cystic Fibrosis Foundation Therapeutics, National Institute on Minority Health and Health Disparities, National Heart, Lung, and Blood Institute

المصدر: Pediatric Pulmonology ; volume 55, issue 2, page 533-540 ; ISSN 8755-6863 1099-0496

الإتاحة: https://doi.org/10.1002/ppul.24549Test