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Preview	Issue Date	Title	Author(s)
	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.
	2003	Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions	Brooks, W.; Kwok, J.; Kril, J.; Broe, G.; Blumbergs, P.; Tannenberg, A.; Lamont, P.; Hedges, P.; Schofield, P.
	2023	A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer.	Mayoh, C.; Gifford, A.J.; Terry, R.; Lau, L.M.S.; Wong, M.; Rao, P.; Shai-Hee, T.; Saletta, F.; Khuong-Quang, D.-A.; Qin, V.; Mateos, M.K.; Meyran, D.; Miller, K.E.; Yuksel, A.; Mould, E.V.A.; Bowen-James, R.; Govender, D.; Senapati, A.; Zhukova, N.; Omer, N.; et al.
	2014	Dose selection, pharmacokinetics, and pharmacodynamics of BRAF inhibitor dabrafenib (GSK2118436)	Falchook, G.; Long, G.; Kurzrock, R.; Kim, K.; Arkenau, H.; Brown, M.; Hamid, O.; Infante, J.; Millward, M.; Pavlick, A.; Chin, M.; O'Day, S.; Blackman, S.; Curtis, C.; Lebowitz, P.; Ma, B.; Ouellet, D.; Kefford, R.
	2008	Association of PARL rs3732581 genetic variant with insulin levels, metabolic syndrome and coronary artery disease	Powell, B.; Wiltshire, S.; Arscott, G.; McCaskie, P.; Hung, J.; McQuillan, B.; Thompson, P.; Carter, K.; Palmer, L.; Beilby, J.
	2013	PIK3CA and PTEN gene and exon mutation-specific clinicopathologic and molecular associations in colorectal cancer	Day, F.; Jorissen, R.; Lipton, L.; Mouradov, D.; Sakthianandeswaren, A.; Christie, M.; Li, S.; Tsui, C.; Tie, J.; Desai, J.; Xu, Z.; Molloy, P.; Whitehall, V.; Leggett, B.; Jones, I.; McLaughlin, S.; Ward, R.; Hawkins, N.; Ruszkiewicz, A.; Moore, J.; et al.
	2022	Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia	Bassal, M.A.; Samaraweera, S.E.; Lim, K.; Bernard, B.A.; Bailey, S.; Kaur, S.; Leo, P.; Toubia, J.; Thompson-Peach, C.; Nguyen, T.; Maung, K.Z.Y.; Casolari, D.A.; Iarossi, D.G.; Pagani, I.S.; Powell, J.; Pitson, S.; Natera, S.; Roessner, U.; Lewis, I.D.; Brown, A.L.; et al.
	2022	Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants	Bournazos, A.M.; Riley, L.G.; Bommireddipalli, S.; Ades, L.; Akesson, L.S.; Al-Shinnag, M.; Alexander, S.I.; Archibald, A.D.; Balasubramaniam, S.; Berman, Y.; Beshay, V.; Boggs, K.; Bojadzieva, J.; Brown, N.J.; Bryen, S.J.; Buckley, M.F.; Chong, B.; Davis, M.R.; Dawes, R.; Delatycki, M.; et al.
	2015	Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity	Brookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.; Field, M.; Schwartz, C.; Gecz, J.; Shi, Y.
	2002	Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation	Turner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.