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Preview	Issue Date	Title	Author(s)
	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.
	2016	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID	van Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
	2008	Nilotinib (formerly AMN107), a highly selective BCR-ABL tyrosine kinase inhibitor, is active in patients with imatinib-resistant or -intolerant accelerated-phase chronic myelogenous leukemia	le Coutre, P.; Ottmann, O.; Giles, F.; Kim, D.; Cortes, J.; Gattermann, N.; Apperley, J.; Larson, R.; Abruzzese, E.; O'Brien, S.; Kuliczkowski, K.; Hochhaus, A.; Mahon, F.; Saglio, G.; Gobbi, M.; Kwong, Y.; Baccarani, M.; Hughes, T.; Martinelli, G.; Radich, J.; et al.
	2011	A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma	Yokoyama, S.; Woods, S.; Boyle, G.; Aoude, L.; MacGregor, S.; Zismann, V.; Gartside, M.; Cust, A.; Haq, R.; Harland, M.; Taylor, J.; Duffy, D.; Holohan, K.; Dutton-Regester, K.; Palmer, J.; Bonazzi, V.; Stark, M.; Symmons, J.; Law, M.; Schmidt, C.; et al.
	2008	SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome	Gilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.
	2010	PHF6 mutations in T-cell acute lymphoblastic leukemia	Van Vlierberghe, P.; Palomero, T.; Khiabanian, H.; Van der Meulen, J.; Castillo, M.; Van Roy, N.; De Moerloose, B.; Philippe, J.; Gonzalez-Garcia, M.; Toribio, M.; Taghon, T.; Zuurbier, L.; Cauwelier, B.; Harrison, C.; Schwab, C.; Pisecker, M.; Strehl, S.; Langerak, A.; Gecz, J.; Sonneveld, E.; et al.
	2013	Mutations in DEPDC5 cause familial focal epilepsy with variable foci	Dibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
	2002	ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation	Bienvenu, T.; Poirier, K.; Friocourt, G.; Bahi, N.; Beaumont, D.; Fauchereau, F.; Jeema, L.; Zemni, R.; Vinet, M.; Francis, F.; Couvert, P.; Gomot, M.; Moraine, C.; van Bokhoven, H.; Kalscheuer, V.; Frints, S.; Gecz, J.; Ohzaki, K.; Chaabouni, H.; Fryns, J.; et al.