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A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR. Neveling K, et al. Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18. Hum Mutat. 2013. PMID: 24123792
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG. Kleefstra T, et al. J Med Genet. 2009 Sep;46(9):598-606. doi: 10.1136/jmg.2008.062950. Epub 2009 Mar 4. J Med Genet. 2009. PMID: 19264732 Free article.
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
van der Klift HM, Tops CM, Bik EC, Boogaard MW, Borgstein AM, Hansson KB, Ausems MG, Gomez Garcia E, Green A, Hes FJ, Izatt L, van Hest LP, Alonso AM, Vriends AH, Wagner A, van Zelst-Stams WA, Vasen HF, Morreau H, Devilee P, Wijnen JT. van der Klift HM, et al. Hum Mutat. 2010 May;31(5):578-87. doi: 10.1002/humu.21229. Hum Mutat. 2010. PMID: 20186688
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.
Kwok CT, Vogelaar IP, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Rapkins RW, Ward RL, Chun N, Ford JM, Ladabaum U, McKinnon WC, Greenblatt MS, Hitchins MP. Kwok CT, et al. Eur J Hum Genet. 2014 May;22(5):617-24. doi: 10.1038/ejhg.2013.200. Epub 2013 Oct 2. Eur J Hum Genet. 2014. PMID: 24084575 Free PMC article.
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C. Nishiguchi KM, et al. Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31. Ophthalmology. 2014. PMID: 24697911
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