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Preview	Issue Date	Title	Author(s)
	2020	RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML	Brown, A.L.; Arts, P.; Carmichael, C.L.; Babic, M.; Dobbins, J.; Chong, C.-E.; Schreiber, A.W.; Feng, J.; Phillips, K.; Wang, P.P.S.; Ha, T.; Homan, C.C.; King-Smith, S.L.; Rawlings, L.; Vakulin, C.; Dubowsky, A.; Burdett, J.; Moore, S.; McKavanagh, G.; Henry, D.; et al.
	2020	Genome sequencing in persistently unsolved white matter disorders	Helman, G.; Lajoie, B.R.; Crawford, J.; Takanohashi, A.; Walkiewicz, M.; Dolzhenko, E.; Gross, A.M.; Gainullin, V.G.; Bent, S.J.; Jenkinson, E.M.; Ferdinandusse, S.; Waterham, H.R.; Dorboz, I.; Bertini, E.; Miyake, N.; Wolf, N.I.; Abbink, T.E.M.; Kirwin, S.M.; Tan, C.M.; Hobson, G.M.; et al.
	2013	A novel prion disease associated with diarrhea and autonomic neuropathy	Mead, S.; Gandhi, S.; Beck, J.; Caine, D.; Gallujipali, D.; Carswell, C.; Hyare, H.; Joiner, S.; Ayling, H.; Lashley, T.; Linehan, J.M.; Al-Doujaily, H.; Sharps, B.; Revesz, T.; Sandberg, M.K.; Reilly, M.M.; Koltzenburg, M.; Forbes, A.; Rudge, P.; Brandner, S.; et al.
	2015	Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis	Ramos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
	2015	A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy	Muona, M.; Berkovic, S.; Dibbens, L.; Oliver, K.; Maljevic, S.; Bayly, M.; Joensuu, T.; Canafoglia, L.; Franceschetti, S.; Michelucci, R.; Markkinen, S.; Heron, S.; Hildebrand, M.; Andermann, E.; Andermann, F.; Gambardella, A.; Tinuper, P.; Licchetta, L.; Scheffer, I.; Criscuolo, C.; et al.
	2016	Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy	Ricos, M.G.; Hodgson, B.L.; Pippucci, T.; Saidin, A.; Ong, Y.S.; Heron, S.E.; Licchetta, L.; Bisulli, F.; Bayly, M.A.; Hughes, J.; Baldassari, S.; Palombo, F.; Epilepsy Electroclinical Study Group,; Santucci, M.; Meletti, S.; Berkovic, S.F.; Rubboli, G.; Thomas, P.Q.; Scheffer, I.E.; Tinuper, P.; et al.
	2016	Point mutations in Exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variant	Li, J.; Woods, S.; Healey, S.; Beesley, J.; Chen, X.; Lee, J.; Sivakumaran, H.; Wayte, N.; Nones, K.; Waterfall, J.; Pearson, J.; Patch, A.; Senz, J.; Ferreira, M.; Kaurah, P.; MacKenzie, R.; Heravi-Moussavi, A.; Hansford, S.; Lannagan, T.; Spurdle, A.; et al.
	2016	Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies	Lewinsohn, M.; Brown, A.L.; Weinel, L.M.; Phung, C.; Rafidi, G.; Lee, M.K.; Schreiber, A.W.; Feng, J.; Babic, M.; Chong, C.E.; Lee, Y.; Yong, A.; Suthers, G.K.; Poplawski, N.; Altree, M.; Phillips, K.; Jaensch, L.; Fine, M.; D'Andrea, R.J.; Lewis, I.D.; et al.
	2015	Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures	Yamamoto, T.; Shimojima, K.; Sangu, N.; Komoike, Y.; Ishii, A.; Abe, S.; Yamashita, S.; Imai, K.; Kubota, T.; Fukasawa, T.; Okanishi, T.; Enoki, H.; Tanabe, T.; Saito, A.; Furukawa, T.; Shimizu, T.; Milligan, C.; Petrou, S.; Heron, S.; Dibbens, L.; et al.; Ishii, R.
	2013	Rare variants in single-minded 1 (SIM1) are associated with severe obesity	Ramachandrappa, S.; Raimondo, A.; Cali, A.; Keogh, J.; Henning, E.; Saeed, S.; Thompson, A.; Garg, S.; Bochukova, E.; Brage, S.; Trowse, V.; Wheeler, E.; Sullivan, A.; Dattani, M.; Clayton, P.; Datta, V.; Bruning, J.; Wareham, N.; O'Rahilly, S.; Peet, D.; et al.