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Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).
Claustres M, Kožich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ, Barton DE; European Society of Human Genetics. Claustres M, et al. Eur J Hum Genet. 2014 Feb;22(2):160-70. doi: 10.1038/ejhg.2013.125. Epub 2013 Aug 14. Eur J Hum Genet. 2014. PMID: 23942201 Free PMC article.
Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS.
van Belzen IAEM, Cai C, van Tuil M, Badloe S, Strengman E, Janse A, Verwiel ETP, van der Leest DFM, Kester L, Molenaar JJ, Meijerink J, Drost J, Peng WC, Kerstens HHD, Tops BBJ, Holstege FCP, Kemmeren P, Hehir-Kwa JY. van Belzen IAEM, et al. Among authors: hehir kwa jy. BMC Cancer. 2023 Jul 3;23(1):618. doi: 10.1186/s12885-023-11054-3. BMC Cancer. 2023. PMID: 37400763 Free PMC article.
Homozygosity mapping in outbred families with mental retardation.
Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Pfundt R, van Bon BW, de Leeuw N, Kleefstra T, Willemsen MA, van Kessel AG, Brunner HG, Veltman JA, van Bokhoven H, de Brouwer AP, de Vries BB. Schuurs-Hoeijmakers JH, et al. Eur J Hum Genet. 2011 May;19(5):597-601. doi: 10.1038/ejhg.2010.167. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248743 Free PMC article.
Reply to Sajantila and Budowle.
Barton DE, Claustres M, Kozich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ. Barton DE, et al. Eur J Hum Genet. 2016 Mar;24(3):330. doi: 10.1038/ejhg.2014.290. Epub 2015 Jan 14. Eur J Hum Genet. 2016. PMID: 25585701 Free PMC article. No abstract available.
Towards a European consensus for reporting incidental findings during clinical NGS testing.
Hehir-Kwa JY, Claustres M, Hastings RJ, van Ravenswaaij-Arts C, Christenhusz G, Genuardi M, Melegh B, Cambon-Thomsen A, Patsalis P, Vermeesch J, Cornel MC, Searle B, Palotie A, Capoluongo E, Peterlin B, Estivill X, Robinson PN. Hehir-Kwa JY, et al. Eur J Hum Genet. 2015 Dec;23(12):1601-6. doi: 10.1038/ejhg.2015.111. Epub 2015 Jun 3. Eur J Hum Genet. 2015. PMID: 26036857 Free PMC article.
Diagnostic interpretation of array data using public databases and internet sources.
de Leeuw N, Dijkhuizen T, Hehir-Kwa JY, Carter NP, Feuk L, Firth HV, Kuhn RM, Ledbetter DH, Martin CL, van Ravenswaaij-Arts CM, Scherer SW, Shams S, Van Vooren S, Sijmons R, Swertz M, Hastings R. de Leeuw N, et al. Hum Mutat. 2012 Jun;33(6):930-40. doi: 10.1002/humu.22049. Hum Mutat. 2012. PMID: 26285306 Free PMC article.
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG. Zazo Seco C, et al. Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000701 Free PMC article.
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, Kroes HY, Lelieveld SH, Hehir-Kwa JY, Castelein S, Nelen M, Scheffer H, Lugtenberg D, Cremers FP, Hoefsloot L, Yntema HG. Haer-Wigman L, et al. Eur J Hum Genet. 2017 May;25(5):591-599. doi: 10.1038/ejhg.2017.9. Epub 2017 Feb 22. Eur J Hum Genet. 2017. PMID: 28224992 Free PMC article.
Mutations in ANTXR1 cause GAPO syndrome.
Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S. Stránecký V, et al. Am J Hum Genet. 2013 May 2;92(5):792-9. doi: 10.1016/j.ajhg.2013.03.023. Epub 2013 Apr 18. Am J Hum Genet. 2013. PMID: 23602711 Free PMC article.
92 results