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Preview	Issue Date	Title	Author(s)
	2015	Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems	Kumar, R.; Corbett, M.; Van Bon, B.; Gardner, A.; Woenig, J.; Jolly, L.; Douglas, E.; Friend, K.; Tan, C.; Van Esch, H.; Holvoet, M.; Raynaud, M.; Field, M.; Leffler, M.; Budny, B.; Wisniewska, M.; Badura-Stronka, M.; Latos-Bieleńska, A.; Batanian, J.; Rosenfeld, J.; et al.
	2016	HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study	Friez, M.; Brooks, S.; Stevenson, R.; Field, M.; Basehore, M.; Adès, L.; Sebold, C.; Mcgee, S.; Saxon, S.; Skinner, C.; Craig, M.; Murray, L.; Simensen, R.; Yap, Y.; Shaw, M.; Gardner, A.; Corbett, M.; Kumar, R.; Bosshard, M.; Van Loon, B.; et al.
	2015	shRNA off-target effects in vivo: impaired endogenous siRNA expression and spermatogenic defects	Song, H.; Bettegowda, A.; Oliver, D.; Yan, W.; Phan, M.; De Rooij, D.; Corbett, M.; Wilkinson, M.; White-Cooper, H.
	2012	A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability	Huang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J.
	2015	Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder	Kumar, R.; Corbett, M.; Smith, N.; Jolly, L.; Tan, C.; Keating, D.; Duffield, M.; Utsumi, T.; Moriya, K.; Smith, K.; Hoischen, A.; Abbott, K.; Harbord, M.; Compton, A.; Woenig, J.; Arts, P.; Kwint, M.; Wieskamp, N.; Gijsen, S.; Veltman, J.; et al.
	2015	Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal	Haines, B.; Hughes, J.; Corbett, M.; Shaw, M.; Innes, J.; Patel, L.; Gecz, J.; Clayton-Smith, J.; Thomas, P.
	2015	Developmental disorders: deciphering exomes on a grand scale	Gecz, J.; Corbett, M.
	2012	PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome	Heron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.