2011

• Rohrbach, M., Vandersteen, A., Yiş, U., Serdaroglu, G., Ataman, E., Chopra, M., Garcia, S., Jones, K., Kariminejad, A., Kraenzlin, M., Marcelis, C., Baumgartner, M., Giunta, C. (2011), Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet Journal of Rare Diseases. 6, 46. [Abstract]

2010

• Mehr, S., Jones, K., Singh-Grewal, D., Aksentijevich, I., Kakakios, A. (2010), Chronic urticaria of neonatal onset: A potential sign of autoinflammation. Journal of paediatrics and child health. 46(10), 608-10. [Abstract]
• Hoornaert, K., Vereecke, I., Dewinter, C., Rosenberg, T., Beemer, F., Leroy, J., Bendix, L., Bjorck, E., Bonduelle, M., Boute, O., Cormier-Daire, V., De Die-Smulders, C., Dieux-Coeslier, A., Dollfus, H., Elting, M., Green, A., Guerci, V., Hennekam, R., Hilhorts-Hofstee, Y., Holder, M., Hoyng, C., Jones, K., Josifova, D., Kaitila, I., Kjaergaard, S., Kroes, Y., Lagerstedt, K., Lees, M., LeMerrer, M., Magnani, C., Marcelis, C., Martorell, L., Mathieu, M., McEntagart, M., Mendicino, A., Morton, J., Orazio, G., Paquis, V., Reish, O., Simola, K., Smithson, S., Temple, K., Van Aken, E., Van Bever, Y., van den Ende, J., Van Hagen, J., Zelante, L., Zordania, R., De Paepe, A., Leroy, B., De Buyzere, M., Coucke, P., Mortier, G. (2010), Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. European Journal of Human Genetics. 18(8), 872-880. [Abstract]

2009

• D'Haene, B., Attanasio, C., Beysen, D., Dostie, J., Lemire, E., Bouchard, P., Field, M., Jones, K., Lorenz, B., Menten, B., Buysse, K., Pattyn, F., Friedli, M., Ucla, C., Rossier, C., Wyss, C., Speleman, F., De Paepe, A., Dekker, J., Antonarakis, S., De Baere, E. (2009), Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening. Plos Genetics. 5(6), 13. [Abstract]

2008

• Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., Froehner, S., North, K. (2008), Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy. American journal of human genetics. 83(6), 714-24. [Abstract]

2007

• Peat, R., Baker, N., Jones, K., North, K., Lamandé, S. (2007), Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscular disorders : NMD. 17(7), 547-557. [Abstract]

2006

• Gabbett, M., Jones, K., Cowell, C., Sillence, D., Wilson, M. (2006), Neonatal severe hyperparathyroidism: An important clue to the aetiology. Journal of paediatrics and child health. 42(12), 813-6. [Abstract]
• Geevasinga, N., Richards, F., Jones, K., Ryan, M. (2006), Juvenile Huntington disease. Journal of paediatrics and child health. 42(9), 552-4. [Abstract]
• Peat, R., Baker, N., Jones, K., Lamande, S., North, K. (2006), Defining the aetiology of congenital muscular dystrophy in a large cohort. Neuromuscular Disorders. 16, S123-S124. [Abstract]