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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 21
2021 15
2022 2
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Search Results

170 results
Results by year
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Page 1
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.
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.
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 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 Review.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Amendola LM, et al. Among authors: amaral md. Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181684 Free PMC article.
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.
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 No abstract available.
CFTR modulator theratyping: Current status, gaps and future directions.
Clancy JP, Cotton CU, Donaldson SH, Solomon GM, VanDevanter DR, Boyle MP, Gentzsch M, Nick JA, Illek B, Wallenburg JC, Sorscher EJ, Amaral MD, Beekman JM, Naren AP, Bridges RJ, Thomas PJ, Cutting G, Rowe S, Durmowicz AG, Mense M, Boeck KD, Skach W, Penland C, Joseloff E, Bihler H, Mahoney J, Borowitz D, Tuggle KL. Clancy JP, et al. Among authors: amaral md. J Cyst Fibros. 2019 Jan;18(1):22-34. doi: 10.1016/j.jcf.2018.05.004. Epub 2018 Jun 20. J Cyst Fibros. 2019. PMID: 29934203 Free PMC article. Review.
170 results