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Preview	Issue Date	Title	Author(s)
	1996	Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow	Fairbairn, L.; Lashford, L.; Spooncer, E.; McDermott, R.; Lebens, G.; Arrand, J.; Arrand, J.; Bellantuono, I.; Holt, R.; Hatton, C.; Cooper, A.; Besley, G.; Wraith, J.; Anson, D.; Hopwood, J.; Dexter, T.
	2008	X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment	Dibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
	2000	FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations	Gecz, J.
	1997	Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident	Wicking, C.; Shanley, S.; Smyth, I.; Gillies, S.; Negus, K.; Graham, S.; Suthers, G.; Haites, N.; Edwards, M.; Wainwright, B.; Chenevix Trench, G.
	2007	Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus	Raymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al.
	2022	The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature	Knight, L.S.W.; Mullany, S.; Taranath, D.A.; Ruddle, J.B.; Barnett, C.P.; Sallevelt, S.C.E.H.; Berry, E.C.; Marshall, H.N.; Hollitt, G.L.; Souzeau, E.; Craig, J.E.; Siggs, O.M.
	1998	X-linked adrenoleukodystrophy: the Australasian experience	Kirk, E.; Fletcher, J.; Sharp, P.; Carey, B.; Poulos, A.
	1997	Unbalanced t(4;11)(q32-q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes	Byatt, S.; Baker, E.; Richards, R.; Roberts, C.; Smith, A.
	2003	Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout mice	Raben, N.; Nagaraju, K.; Lee, A.; Lu, N.; Rivera, Y.; Jatkar, T.; Hopwood, J.; Plotz, P.
	2020	Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 mendelian neurodevelopmental disorders	Aref-Eshghi, E.; Kerkhof, J.; Pedro, V.P.; Barat-Houari, M.; Ruiz-Pallares, N.; Andrau, J.C.; Lacombe, D.; Van-Gils, J.; Fergelot, P.; Dubourg, C.; Cormier-Daire, V.; Rondeau, S.; Lecoquierre, F.; Saugier-Veber, P.; Nicolas, G.; Lesca, G.; Chatron, N.; Sanlaville, D.; Vitobello, A.; Faivre, L.; et al.