Review:

Long-range regulation at the SOX9 locus in development and disease

C T Gordon, T Y Tan, S Benko, D FitzPatrick, S Lyonnet, and P G Farlie

J Med Genet 2009; 46: 649-656.
Published Online First: 26 May 2009. doi:10.1136/jmg.2009.068361

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Original articles:

Association of chromosome 2q36.1–36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families

J Gu, J Huang, C Li, L Zhao, F Huang, Z Liao, T Li, Q Wei, Z Lin, Y Pan, J Huang, X Wang, Q Lin, C Lu, Y Wu, S Cao, J Wu, H Xu, B Yu, and Y Shen

J Med Genet 2009; 46: 657-662.
Published Online First: 4 May 2009. doi:10.1136/jmg.2009.066456

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Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

E A Otto, K Tory, M Attanasio, W Zhou, M Chaki, Y Paruchuri, E L Wise, M T F Wolf, B Utsch, C Becker, G Nürnberg, P Nürnberg, A Nayir, S Saunier, C Antignac, and F Hildebrandt

J Med Genet 2009; 46: 663-670.
Published Online First: 8 June 2009. doi:10.1136/jmg.2009.066613

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Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity

K Kanai, S Yoshida, S Hirose, H Oguni, S Kuwabara, S Sawai, A Hiraga, G Fukuma, H Iwasa, T Kojima, and S Kaneko

J Med Genet 2009; 46: 671-679.
Published Online First: 7 July 2009. doi:10.1136/jmg.2008.060897

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Phenomic determinants of genomic variation in autism spectrum disorders

Y Qiao, N Riendeau, M Koochek, X Liu, Chansonette Harvard, M J Hildebrand, J J A Holden, E Rajcan-Separovic, and M E S Lewis

J Med Genet 2009; 46: 680-688.
Published Online First: 21 July 2009. doi:10.1136/jmg.2009.066795

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Letters to JMG:

High frequency of de novo mutations in Li–Fraumeni syndrome

K D Gonzalez, C H Buzin, K A Noltner, D Gu, W Li, D Malkin, and S S Sommer

J Med Genet 2009; 46: 689-693.
Published Online First: 25 June 2009. doi:10.1136/jmg.2008.058958

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U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements

L R Rowe, J-Y Lee, L Rector, E B Kaminsky, A R Brothman, C L Martin, and S T South

J Med Genet 2009; 46: 694-702.
Published Online First: 16 March 2009. doi:10.1136/jmg.2008.065052

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A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome

L Roos, A E Jønch, S Kjaergaard, K Taudorf, H Simonsen, B Hamborg-Petersen, K Brøndum-Nielsen, and M Kirchhoff

J Med Genet 2009; 46: 703-710.
Published Online First: 10 June 2009. doi:10.1136/jmg.2008.065094

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ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy

Y Bacq, C Gendrot, F Perrotin, L Lefrou, S Chrétien, V Vie-Buret, M-C Brechot, and C R Andres

J Med Genet 2009; 46: 711-715.
Published Online First: 6 July 2009. doi:10.1136/jmg.2009.067397

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Mutation report:

Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome

S M Maas, M P Lombardi, A J van Essen, E L Wakeling, B Castle, I K Temple, V K A Kumar, K Writzl, and Raoul C M Hennekam

J Med Genet 2009; 46: 716-720.
Published Online First: 7 July 2009. doi:10.1136/jmg.2009.068403

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