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PLEKHM2 Loss-of-Function Is Associated With Dilated Cardiomyopathy.
Circ Genom Precis Med. 2022 Aug;15(4):e003594. doi: 10.1161/CIRCGEN.121.003594. Epub 2022 Jul 6.
Circ Genom Precis Med. 2022.
PMID: 35862026
Free PMC article.
No abstract available.
A case report of CFTR modulator administration via carrier mother to treat meconium ileus in a F508del homozygous fetus.
Szentpetery S, Foil K, Hendrix S, Gray S, Mingora C, Head B, Johnson D, Flume PA.
Szentpetery S, et al. Among authors: foil k.
J Cyst Fibros. 2022 Jul;21(4):721-724. doi: 10.1016/j.jcf.2022.04.005. Epub 2022 Apr 11.
J Cyst Fibros. 2022.
PMID: 35422395
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Experiences of cystic fibrosis newborn screening and genetic counseling.
Foil K, Christon L, Kerrigan C, Flume PA, Drinkwater J, Szentpetery S.
Foil K, et al.
J Community Genet. 2023 Dec;14(6):621-626. doi: 10.1007/s12687-023-00666-8. Epub 2023 Sep 1.
J Community Genet. 2023.
PMID: 37656403
Free PMC article.
Item in Clipboard
Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations.
Foil KE, Blanton MG, Sanders C, Kim J, Al Ashry HS, Kumbhare S, Strange C.
Foil KE, et al.
Pulm Med. 2018 Sep 5;2018:2836389. doi: 10.1155/2018/2836389. eCollection 2018.
Pulm Med. 2018.
PMID: 30254761
Free PMC article.
Clinical Trial.
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Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency.
Foil KE.
Foil KE.
Ther Adv Chronic Dis. 2021 Jul 29;12_suppl:20406223211015954. doi: 10.1177/20406223211015954. eCollection 2021.
Ther Adv Chronic Dis. 2021.
PMID: 34408833
Free PMC article.
Review.
Item in Clipboard
The increasing challenge of genetic counseling for cystic fibrosis.
Foil KE, Powers A, Raraigh KS, Wallis K, Southern KW, Salinas D.
Foil KE, et al.
J Cyst Fibros. 2019 Mar;18(2):167-174. doi: 10.1016/j.jcf.2018.11.014. Epub 2018 Dec 7.
J Cyst Fibros. 2019.
PMID: 30527892
Free article.
Review.
Item in Clipboard
Genetic counseling access for parents of newborns who screen positive for cystic fibrosis: Consensus guidelines.
Langfelder-Schwind E, Raraigh KS; CF Newborn Screening Genetic Counseling Workgroup; Parad RB.
Langfelder-Schwind E, et al.
Pediatr Pulmonol. 2022 Apr;57(4):894-902. doi: 10.1002/ppul.25806. Epub 2022 Jan 11.
Pediatr Pulmonol. 2022.
PMID: 34964558
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Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants.
Allen CG, Hunt KJ, McMahon LL, Thornhill C, Jackson A, Clark JT, Kirchoff K, Garrison KL, Foil K, Malphrus L, Norman S, Ramos PS, Perritt K, Brown C, Lenert L, Judge DP.
Allen CG, et al. Among authors: foil k.
Am J Hum Genet. 2024 Mar 7;111(3):433-444. doi: 10.1016/j.ajhg.2024.01.004. Epub 2024 Feb 1.
Am J Hum Genet. 2024.
PMID: 38307026
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