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Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis.
Olde Keizer RACM, Marouane A, Deden AC, van Zelst-Stams WAG, de Boode WP, Keusters WR, Henneman L, van Amstel JKP, Frederix GWJ, Vissers LELM. Olde Keizer RACM, et al. Among authors: van amstel jkp. Eur J Med Genet. 2022 May;65(5):104467. doi: 10.1016/j.ejmg.2022.104467. Epub 2022 Mar 1. Eur J Med Genet. 2022. PMID: 35240323 Free article.
Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.
Letteboer TG, Benzinou M, Merrick CB, Quigley DA, Zhau K, Kim IJ, To MD, Jablons DM, van Amstel JK, Westermann CJ, Giraud S, Dupuis-Girod S, Lesca G, Berg JH, Balmain A, Akhurst RJ. Letteboer TG, et al. Front Genet. 2015 Mar 12;6:67. doi: 10.3389/fgene.2015.00067. eCollection 2015. Front Genet. 2015. PMID: 25815003 Free PMC article.
Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.
Benzinou M, Clermont FF, Letteboer TG, Kim JH, Espejel S, Harradine KA, Arbelaez J, Luu MT, Roy R, Quigley D, Higgins MN, Zaid M, Aouizerat BE, van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Plauchu H, Hughes CC, Westermann CJ, Akhurst RJ. Benzinou M, et al. Nat Commun. 2012 Jan 10;3:616. doi: 10.1038/ncomms1633. Nat Commun. 2012. PMID: 22233626 Free PMC article.