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Carroll, R.; Kumar, R.; Shaw, M.; Slee, J.; Kalscheuer, V.; Corbett, M. A.; Gecz, J.: Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. European journal of human genetics 25 (9), pp. 1078 - 1082 (2017)

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Jerković, I.; Ibrahim, D.; Andrey, G.; Haas, S.; Hansen, P.; Janetzki, C.; Gonzalez Navarrete, I.; Robinson, P. N.; Hecht, J.; Mundlos, S.: Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. PLoS Genetics 13 (1), e1006567 (2017)

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Spielmann, M.; Mundlos, S.: Looking beyond the genes: the role of non-coding variants in human disease. Human Molecular Genetics 25 (R2), pp. R157 - R165 (2016)

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