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Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.
Jedraszak G, Demeer B, Mathieu-Dramard M, Andrieux J, Receveur A, Weber A, Maye U, Foulds N, Temple IK, Crolla J, Alex-Cordier MP, Sanlaville D, Ewans L, Wilson M, Armstrong R, Clarkson A, Copin H, Morin G. Jedraszak G, et al. Among authors: wilson m. Am J Med Genet A. 2015 Mar;167A(3):504-11. doi: 10.1002/ajmg.a.36882. Epub 2015 Jan 8. Am J Med Genet A. 2015. PMID: 25572454 Review.
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: wilson m. 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.
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, Kirk EP, Love D, Ronan A, Darmanian A, Slavotinek A, Hogue J, Moeschler JB, Ozmore J, Widmer R, Bruno D, Savarirayan R, Peters G. Tan TY, et al. Among authors: wilson m. J Med Genet. 2009 Jul;46(7):480-9. doi: 10.1136/jmg.2008.065391. Epub 2009 May 15. J Med Genet. 2009. PMID: 19447831
A deep intronic SMARCB1 variant associated with schwannomatosis.
Smith MJ, Bowers NL, Banks C, Coates-Brown R, Morris KA, Ewans L, Wilson M, Pinner J, Bhaskar SS, Cammarata-Scalisi F, Wallace AJ, Evans DGR. Smith MJ, et al. Among authors: wilson m. Clin Genet. 2020 Feb;97(2):376-377. doi: 10.1111/cge.13637. Epub 2019 Sep 9. Clin Genet. 2020. PMID: 31502250 No abstract available.
Distal 8p deletion (8p23.1----8pter): a common deletion?
Hutchinson R, Wilson M, Voullaire L. Hutchinson R, et al. Among authors: wilson m. J Med Genet. 1992 Jun;29(6):407-11. doi: 10.1136/jmg.29.6.407. J Med Genet. 1992. PMID: 1619636 Free PMC article.
Mowat-Wilson syndrome.
Mowat DR, Wilson MJ, Goossens M. Mowat DR, et al. Among authors: wilson mj. J Med Genet. 2003 May;40(5):305-10. doi: 10.1136/jmg.40.5.305. J Med Genet. 2003. PMID: 12746390 Free PMC article. Review.
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