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SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements.

Smyk M, Akdemir KC, Stankiewicz P. Smyk M, et al. Nucleus. 2017 Mar 4;8(2):182-187. doi: 10.1080/19491034.2017.1279776. Epub 2017 Jan 13. Nucleus. 2017. PMID: 28085555 Free PMC article.

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The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

Fonseca AC, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM. Fonseca AC, et al. BMC Med Genet. 2013 May 7;14:50. doi: 10.1186/1471-2350-14-50. BMC Med Genet. 2013. PMID: 23648064 Free PMC article.

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Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.

Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheung SW, Mazurczak T, Stankiewicz P. Smyk M, et al. Am J Med Genet A. 2007 Apr 15;143A(8):866-70. doi: 10.1002/ajmg.a.31631. Am J Med Genet A. 2007. PMID: 17352389

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Molecular mechanisms associated with 46,XX disorders of sex development.

Knarston I, Ayers K, Sinclair A. Knarston I, et al. Clin Sci (Lond). 2016 Mar;130(6):421-32. doi: 10.1042/CS20150579. Clin Sci (Lond). 2016. PMID: 26846580 Review.

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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.

Jakobsen LP, Ullmann R, Christensen SB, Jensen KE, Mølsted K, Henriksen KF, Hansen C, Knudsen MA, Larsen LA, Tommerup N, Tümer Z. Jakobsen LP, et al. J Med Genet. 2007 Jun;44(6):381-6. doi: 10.1136/jmg.2006.046177. J Med Genet. 2007. PMID: 17551083 Free PMC article.

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Paternally derived translocation t(8;18)(q22.1;q22)pat associated in a patient with developmental delay: Case report and review.

Rao L, Kanakavalli M, Padmalatha V, Nallari P, Singh L. Rao L, et al. J Pediatr Neurosci. 2010 Jan;5(1):64-7. doi: 10.4103/1817-1745.66686. J Pediatr Neurosci. 2010. PMID: 21042514 Free PMC article.

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Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

Smyk M, Szafranski P, Startek M, Gambin A, Stankiewicz P. Smyk M, et al. Chromosome Res. 2013 Dec;21(8):781-8. doi: 10.1007/s10577-013-9386-4. Epub 2013 Nov 20. Chromosome Res. 2013. PMID: 24254229

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Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.

White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A. White S, et al. PLoS One. 2011 Mar 7;6(3):e17793. doi: 10.1371/journal.pone.0017793. PLoS One. 2011. PMID: 21408189 Free PMC article.

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Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.

Castori M, Bottillo I, Morlino S, Barone C, Cascone P; Pediatric Craniofacial Malformation (PECRAM) Study Group, Grammatico P, Laino L. Castori M, et al. Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):61-8. doi: 10.1002/bdra.23463. Epub 2015 Dec 11. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26663529

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Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.

Gordon CT, Attanasio C, Bhatia S, Benko S, Ansari M, Tan TY, Munnich A, Pennacchio LA, Abadie V, Temple IK, Goldenberg A, van Heyningen V, Amiel J, FitzPatrick D, Kleinjan DA, Visel A, Lyonnet S. Gordon CT, et al. Hum Mutat. 2014 Aug;35(8):1011-20. doi: 10.1002/humu.22606. Hum Mutat. 2014. PMID: 24934569 Free PMC article.

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