Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis
Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL. Hum Mol Genet. 2008 Dec 1;17(23):3761-6. Epub 2008 Sep 5
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Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene
Venceslá A, Fuentes-Prior P, Baena M, Quintana M, Baiget M, Tizzano EF. Haemophilia. 2008 Sep;14(5):1094-8. Epub 2008 Jul 25. Review
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence
Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL. Hum Mutat. 2008 Jul;29(7):931-8
Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion
Fernández L, Lapunzina P, Pajares IL, Palomares M, Martínez I, Fernández B, Quero J, García-Guereta L, García-Alix A, Burgueros M, Galán-Gómez E, Carbonell-Pérez JM, Pérez-Granero A, Torres-Juan L, Heine-Suñer D, Rosell J, Delicado A. Am J Med Genet A. 2008 May 1;146A(9):1134-4157