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• Temporal changes of Sall4 lineage contribution in developing embryos and the contribution of Sall4-lineages to postnatal germ cells in mice.

  Tahara N, Kawakami H, Zhang T, Zarkower D, Kawakami Y. Tahara N, et al. Sci Rep. 2018 Nov 6;8(1):16410. doi: 10.1038/s41598-018-34745-5. Sci Rep. 2018. PMID: 30401915 Free PMC article.
• Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

  Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ. Bisschoff IJ, et al. Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17. Hum Mutat. 2013. PMID: 23033313 Free PMC article.
• A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

  Miertus J, Borozdin W, Frecer V, Tonini G, Bertok S, Amoroso A, Miertus S, Kohlhase J. Miertus J, et al. Hum Genet. 2006 Mar;119(1-2):154-61. doi: 10.1007/s00439-005-0124-7. Epub 2006 Jan 3. Hum Genet. 2006. PMID: 16402211
• Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients.

  Schlachetzki JC, Schmidtke K, Beckervordersandforth J, Borozdin W, Wilhelm C, Hüll M, Kohlhase J. Schlachetzki JC, et al. J Neurol. 2009 Dec;256(12):2043-51. doi: 10.1007/s00415-009-5248-6. Epub 2009 Jul 19. J Neurol. 2009. PMID: 19618231
• Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

  Yang MM, Ho M, Lau HH, Tam PO, Young AL, Pang CP, Yip WW, Chen L. Yang MM, et al. Mol Vis. 2013 May 6;19:986-94. Print 2013. Mol Vis. 2013. PMID: 23687435 Free PMC article.