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PreviewIssue DateTitleAuthor(s)
2019Association of chromosome 9p21 with subsequent coronary heart disease events A GENIUS-CHD study of individual participant dataPatel, R.S.; Schmidt, A.F.; Tragante, V.; McCubrey, R.O.; Holmes, M.; Howe, L.J.; Direk, K.; Akerblom, A.; Leander, K.; Virani, S.S.; Kaminski, K.A.; Muehlschlegel, J.D.; Dube, M.-P.; Allayee, H.; Almgren, P.; Alver, M.; Baranova, E.; Behlouli, H.; Boeckx, B.; Braund, P.S.; et al.
2019Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesiaGorman, K.M.; Meyer, E.; Grozeva, D.; Spinelli, E.; McTague, A.; Sanchis-Juan, A.; Carss, K.J.; Bryant, E.; Reich, A.; Schneider, A.L.; Pressler, R.M.; Simpson, M.A.; Debelle, G.D.; Wassmer, E.; Morton, J.; Sieciechowicz, D.; Jan-Kamsteeg, E.; Paciorkowski, A.R.; King, M.D.; Cross, J.H.; et al.
2020Effect of multilevel upper airway surgery vs medical management on the apnea-hypopnea index and patient-reported daytime sleepiness among patients with moderate or severe obstructive sleep apnea: the SAMS randomized clinical trialMacKay, S.; Carney, A.S.; Catcheside, P.G.; Chai-Coetzer, C.L.; Chia, M.; Cistulli, P.A.; Hodge, J.C.; Jones, A.; Kaambwa, B.; Lewis, R.; Ooi, E.H.; Pinczel, A.J.; McArdle, N.; Rees, G.; Singh, B.; Stow, N.; Weaver, E.M.; Woodman, R.J.; Woods, C.M.; Yeo, A.; et al.
2021The androgen receptor is a tumor suppressor in estrogen receptor-positive breast cancerHickey, T.E.; Selth, L.A.; Chia, K.M.; Laven-Law, G.; Milioli, H.H.; Roden, D.; Jindal, S.; Hui, M.; Finlay-Schultz, J.; Ebrahimie, E.; Birrell, S.N.; Stelloo, S.; Iggo, R.; Alexandrou, S.; Caldon, C.E.; Abdel-Fatah, T.M.; Ellis, I.O.; Zwart, W.; Palmieri, C.; Sartorius, C.A.; et al.
2021Association of SLC32A1 missense variants with genetic epilepsy with febrile seizures plusHeron, S.E.; Regan, B.M.; Harris, R.V.; Gardner, A.E.; Coleman, M.J.; Bennett, M.F.; Grinton, B.E.; Helbig, K.L.; Sperling, M.R.; Haut, S.; Geller, E.B.; Widdess-Walsh, P.; Pelekanos, J.T.; Bahlo, M.; Petrovski, S.; Heinzen, E.L.; Hildebrand, M.S.; Corbett, M.A.; Scheffer, I.E.; Gecz, J.; et al.
2021Protocol for assessing if behavioural functioning of infants born <29 weeks' gestation is improved by omega-3 long-chain polyunsaturated fatty acids: follow-up of a randomised controlled trialGould, J.F.; Roberts, R.M.; Anderson, P.J.; Makrides, M.; Sullivan, T.R.; Gibson, R.A.; McPhee, A.J.; Doyle, L.W.; Opie, G.; Travadi, J.; Cheong, J.L.Y.; Davis, P.G.; Sharp, M.; Simmer, K.; Tan, K.; Morris, S.; Lui, K.; Bolisetty, S.; Liley, H.; Stack, J.; et al.
2021Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancerSinghal, D.; Hahn, C.N.; Feurstein, S.; Wee, L.Y.A.; Moma, L.; Kutyna, M.M.; Chhetri, R.; Eshraghi, L.; Schreiber, A.W.; Feng, J.; Wang, P.P.-S.; Babic, M.; Parker, W.T.; Gao, S.; Moore, S.; Das, S.; Thomas, D.; Pattnaik, S.; Brown, A.L.; D'Andrea, R.J.; et al.
2018A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriersZhang, M.; Ferrari, R.; Tartaglia, M.C.; Keith, J.; Surace, E.I.; Wolf, U.; Sato, C.; Grinberg, M.; Liang, Y.; Xi, Z.; Dupont, K.; McGoldrick, P.; Weichert, A.; McKeever, P.M.; Schneider, R.; McCorkindale, M.D.; Manzoni, C.; Rademakers, R.; Graff-Radford, N.R.; Dickson, D.W.; et al.
2020Effects of allopurinol on the progression of chronic kidney diseaseBadve, S.V.; Pascoe, E.M.; Tiku, A.; Boudville, N.; Brown, F.G.; Cass, A.; Clarke, P.; Dalbeth, N.; Day, R.O.; de Zoysa, J.R.; Douglas, B.; Faull, R.; Harris, D.C.; Hawley, C.M.; Jones, G.R.D.; Kanellis, J.; Palmer, S.C.; Perkovic, V.; Rangan, G.K.; Reidlinger, D.; et al.
2021Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsWhalen, S.; Shaw, M.; Mignot, C.; Héron, D.; Bastaraud, S.C.; Walti, C.C.; Liebelt, J.; Elmslie, F.; Yap, P.; Hurst, J.; Forsythe, E.; Kirmse, B.; Ozmore, J.; Spinelli, A.M.; Calabrese, O.; de Villemeur, T.B.; Tabet, A.C.; Levy, J.; Guet, A.; Kossorotoff, M.; et al.