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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. Roscioli T, et al. Among authors: zhou h. Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253. Nat Genet. 2012. PMID: 22522421 Free PMC article.
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
Rinne T, Clements SE, Lamme E, Duijf PH, Bolat E, Meijer R, Scheffer H, Rosser E, Tan TY, McGrath JA, Schalkwijk J, Brunner HG, Zhou H, van Bokhoven H. Rinne T, et al. Among authors: zhou h. Hum Mol Genet. 2008 Jul 1;17(13):1968-77. doi: 10.1093/hmg/ddn094. Epub 2008 Mar 25. Hum Mol Genet. 2008. PMID: 18364388
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
Kouwenhoven EN, van Heeringen SJ, Tena JJ, Oti M, Dutilh BE, Alonso ME, de la Calle-Mustienes E, Smeenk L, Rinne T, Parsaulian L, Bolat E, Jurgelenaite R, Huynen MA, Hoischen A, Veltman JA, Brunner HG, Roscioli T, Oates E, Wilson M, Manzanares M, Gómez-Skarmeta JL, Stunnenberg HG, Lohrum M, van Bokhoven H, Zhou H. Kouwenhoven EN, et al. Among authors: zhou h. PLoS Genet. 2010 Aug 19;6(8):e1001065. doi: 10.1371/journal.pgen.1001065. PLoS Genet. 2010. PMID: 20808887 Free PMC article.
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H. Kleefstra T, et al. Among authors: zhou h. Am J Hum Genet. 2012 Jul 13;91(1):73-82. doi: 10.1016/j.ajhg.2012.05.003. Epub 2012 Jun 21. Am J Hum Genet. 2012. PMID: 22726846 Free PMC article.
Genomic approaches for studying craniofacial disorders.
Khandelwal KD, van Bokhoven H, Roscioli T, Carels CE, Zhou H. Khandelwal KD, et al. Among authors: zhou h. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):218-31. doi: 10.1002/ajmg.c.31379. Epub 2013 Oct 18. Am J Med Genet C Semin Med Genet. 2013. PMID: 24142857 Review.
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.
Fakhouri WD, Rahimov F, Attanasio C, Kouwenhoven EN, Ferreira De Lima RL, Felix TM, Nitschke L, Huver D, Barrons J, Kousa YA, Leslie E, Pennacchio LA, Van Bokhoven H, Visel A, Zhou H, Murray JC, Schutte BC. Fakhouri WD, et al. Among authors: zhou h. Hum Mol Genet. 2014 May 15;23(10):2711-20. doi: 10.1093/hmg/ddt664. Epub 2014 Jan 16. Hum Mol Genet. 2014. PMID: 24442519 Free PMC article.
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