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Preview	Issue Date	Title	Author(s)
	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.
	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.
	2014	Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma	Aoude, L.; Pritchard, A.; Robles-Espinoza, C.; Wadt, K.; Harland, M.; Choi, J.; Gartside, M.; Quesada, V.; Johansson, P.; Palmer, J.; Ramsay, A.; Zhang, X.; Jones, K.; Symmons, J.; Holland, E.; Schmid, H.; Bonazzi, V.; Woods, S.; Dutton-Regester, K.; Stark, M.; et al.
	2016	Multiplex families with epilepsy: success of clinical and molecular genetic characterization	Afawi, Z.; Oliver, K.L.; Kivity, S.; Mazarib, A.; Blatt, I.; Neufeld, M.Y.; Helbig, K.L.; Goldberg-Stern, H.; Misk, A.J.; Straussberg, R.; Walid, S.; Mahajnah, M.; Lerman-Sagie, T.; Ben-Zeev, B.; Kahana, E.; Masalha, R.; Kramer, U.; Ekstein, D.; Shorer, Z.; Wallace, R.H.; et al.
	2010	Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability	Whibley, A.; Plagnol, V.; Tarpey, P.; Abidi, F.; Fullston, T.; Choma, M.; Boucher, C.; Shepherd, L.; Willatt, L.; Parkin, G.; Smith, R.; Futreal, P.; Shaw, M.; Boyle, J.; Licata, A.; Skinner, C.; Stevenson, R.; Turner, G.; Field, M.; Hackett, A.; et al.
	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.