Key Publications

Pacey V, Tofts L, Wesley A, Collins F, Singh-Grewal D (2015) Joint hypermobility syndrome: a review for clinicians. J Paediatr Child Health 51(4):373-80

Zhang J, Barbaro P, Guo Y, Alodaib A, Li J, Gold W, Adès L, Keating BJ, Xu X, Teo J, Hakonarson H, Christodoulou J. Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. Clin Genet doi: 10.1111/cge.12573. [Epub ahead of print]

Basart H, van de Kar A, Adès L, Cho TJ, Carter E, Maas SM, Wilson LC, van der Horst CM, Wade EM, Robertson SP, Hennekam RC (2015) Frontometaphyseal dysplasia and keloid formation without FLNA mutations. Am J Med Genet 167(6):1215-22

Utami KH, Hillmer AM, Aksoy I, Chew EG, Teo AS, Zhang Z, Lee CW, Chen PJ, Seng CC, Ariyaratne PN, Rouam SL, Soo LS, Yousoof S, Prokudin I, Peters G, Collins F, et al. (2014) Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PLoS One 9(6):e90852

Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, et al. (2014) Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat 35(1):76-85

Ellaway C, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters G, Fagan K, Christodoulou J (2013) 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. European Journal of Human Genetics 21(5), 522-527

Silove N, Collins F, Ellaway C (2013) Update on the investigation of children with delayed development. J Paediatr Child Health 49(7):519-25

Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins Fet al. (2012) Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet 90(5):864-70

Faivre L, Collod-Beroud G, Ades L, Arbustini E, Child A, Callewaert B, Loeys B, Binquet C, Gautier E, Mayer K, et al (2012) The new Ghent criteria for Marfan syndrome: What do they change? Clinical Genetics 81(5), 433-442

Carmignac V, Thevenon J, Adès L, et al. (2012) In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet 91(5):950-7