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SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. Among authors: wilson m. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.
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.
Imperforate anus in Feingold syndrome.
Büttiker V, Wojtulewicz J, Wilson M. Büttiker V, et al. Among authors: wilson m. Am J Med Genet. 2000 May 29;92(3):166-9. doi: 10.1002/(sici)1096-8628(20000529)92:3<166::aid-ajmg2>3.0.co;2-#. Am J Med Genet. 2000. PMID: 10817649
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.
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kääriäinen H, Cass D, Donnai D, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, Aftimos S, Zehnwirth H, Barrey C, Goossens M. Wilson M, et al. Am J Med Genet A. 2003 Jun 15;119A(3):257-65. doi: 10.1002/ajmg.a.20053. Am J Med Genet A. 2003. PMID: 12784289
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.
The behavioral phenotype of Mowat-Wilson syndrome.
Evans E, Einfeld S, Mowat D, Taffe J, Tonge B, Wilson M. Evans E, et al. Among authors: wilson m. Am J Med Genet A. 2012 Feb;158A(2):358-66. doi: 10.1002/ajmg.a.34405. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22246645
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