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Positional cloning of a gene involved in hereditary multiple exostoses.
Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AM, McGaughran J, Halley DJ, Willems PJ. Wuyts W, et al. Among authors: mcgaughran j. Hum Mol Genet. 1996 Oct;5(10):1547-57. doi: 10.1093/hmg/5.10.1547. Hum Mol Genet. 1996. PMID: 8894688
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. Among authors: mcgaughran j. 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
Interstitial deletion of 3p22.2-p24.2: the first reported case.
Liu HX, Oei PT, Mitchell EA, McGaughran JM. Liu HX, et al. Among authors: mcgaughran jm. J Med Genet. 2001 May;38(5):349-51. doi: 10.1136/jmg.38.5.349. J Med Genet. 2001. PMID: 11403048 Free PMC article. No abstract available.
Biliary atresia in Kabuki syndrome.
McGaughran JM, Donnai D, Clayton-Smith J. McGaughran JM, et al. Am J Med Genet. 2000 Mar 13;91(2):157-8. Am J Med Genet. 2000. PMID: 10748418 No abstract available.
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