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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1993 1
1999 1
2000 1
2001 2
2002 2
2003 4
2004 18
2005 6
2006 6
2007 7
2008 4
2009 4
2010 3
2011 12
2012 7
2013 14
2014 7
2015 10
2016 11
2017 4
2018 14
2019 15
2020 20
2021 16
2022 16
2023 12
2024 2

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193 results

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Page 1
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR. Sosnay PR, et al. Among authors: amaral md. Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974870 Free PMC article.
Progress in therapies for cystic fibrosis.
De Boeck K, Amaral MD. De Boeck K, et al. Among authors: amaral md. Lancet Respir Med. 2016 Aug;4(8):662-674. doi: 10.1016/S2213-2600(16)00023-0. Epub 2016 Apr 1. Lancet Respir Med. 2016. PMID: 27053340 Review.
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Bowling KM, Thompson ML, Finnila CR, Hiatt SM, Latner DR, Amaral MD, Lawlor JMJ, East KM, Cochran ME, Greve V, Kelley WV, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kandasamy J, Carlo W, Brothers KB, Kirmse BM, Savich R, Superneau D, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM. Bowling KM, et al. Among authors: amaral md. Genet Med. 2022 Apr;24(4):851-861. doi: 10.1016/j.gim.2021.11.020. Epub 2021 Nov 27. Genet Med. 2022. PMID: 34930662 Free PMC article.
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, Cochran JN, Brothers KB, East KM, Gray DE, Kelley WV, Lamb NE, Lose EJ, Rich CA, Simmons S, Whittle JS, Weaver BT, Nesmith AS, Myers RM, Barsh GS, Bebin EM, Cooper GM. Bowling KM, et al. Among authors: amaral md. Genome Med. 2017 May 30;9(1):43. doi: 10.1186/s13073-017-0433-1. Genome Med. 2017. PMID: 28554332 Free PMC article.
CFTR, Cell Junctions and the Cytoskeleton.
Pankonien I, Quaresma MC, Rodrigues CS, Amaral MD. Pankonien I, et al. Among authors: amaral md. Int J Mol Sci. 2022 Feb 28;23(5):2688. doi: 10.3390/ijms23052688. Int J Mol Sci. 2022. PMID: 35269829 Free PMC article. Review.
CFTR processing, trafficking and interactions.
Amaral MD, Hutt DM, Tomati V, Botelho HM, Pedemonte N. Amaral MD, et al. J Cyst Fibros. 2020 Mar;19 Suppl 1:S33-S36. doi: 10.1016/j.jcf.2019.10.017. Epub 2019 Oct 31. J Cyst Fibros. 2020. PMID: 31680043 Free article. Review.
Letter to the editor of JCF.
Amaral MD. Amaral MD. J Cyst Fibros. 2020 May;19(3):503. doi: 10.1016/j.jcf.2020.02.011. J Cyst Fibros. 2020. PMID: 32600655 Free article. No abstract available.
Antibodies for CFTR studies.
Mendes F, Farinha CM, Roxo-Rosa M, Fanen P, Edelman A, Dormer R, McPherson M, Davidson H, Puchelle E, De Jonge H, Heda GD, Gentzsch M, Lukacs G, Penque D, Amaral MD. Mendes F, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:69-72. doi: 10.1016/j.jcf.2004.05.016. J Cyst Fibros. 2004. PMID: 15463931 Free article. Review.
What Can RNA-Based Therapy Do for Monogenic Diseases?
Clarke LA, Amaral MD. Clarke LA, et al. Among authors: amaral md. Pharmaceutics. 2023 Jan 12;15(1):260. doi: 10.3390/pharmaceutics15010260. Pharmaceutics. 2023. PMID: 36678889 Free PMC article. Review.
193 results