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PreviewIssue DateTitleAuthor(s)
2022Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disabilityTan, N.B.; Pagnamenta, A.T.; Ferla, M.P.; Gadian, J.; Chung, B.H.Y.; Chan, M.C.Y.; Fung, J.L.F.; Cook, E.; Guter, S.; Boschann, F.; Heinen, A.; Schallner, J.; Mignot, C.; Keren, B.; Whalen, S.; Sarret, C.; Mittag, D.; Demmer, L.; Stapleton, R.; Saida, K.; et al.
2018A selective inhibitor of ceramide synthase 1 reveals a novel role in fat metabolismTurner, N.; Lim, X.Y.; Toop, H.D.; Osborne, B.; Brandon, A.E.; Taylor, E.N.; Fiveash, C.E.; Govindaraju, H.; Teo, J.D.; McEwen, H.P.; Couttas, T.A.; Butler, S.M.; Das, A.; Kowalski, G.M.; Bruce, C.R.; Hoehn, K.L.; Fath, T.; Schmitz-Peiffer, C.; Cooney, G.J.; Montgomery, M.K.; et al.
2020Shwachman–Bodian–Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemiaDun, M.D.; Mannan, A.; Rigby, C.J.; Butler, S.; Toop, H.D.; Beck, D.; Connerty, P.; Sillar, J.; Kahl, R.G.S.; Duchatel, R.J.; Germon, Z.; Faulkner, S.; Chi, M.; Skerrett-Byrne, D.; Murray, H.C.; Flanagan, H.; Almazi, J.G.; Hondermarck, H.; Nixon, B.; De Iuliis, G.; et al.
20172017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillationCalkins, H.; Hindricks, G.; Cappato, R.; Kim, Y.; Saad, E.; Aguinaga, L.; Akar, J.; Badhwar, V.; Brugada, J.; Camm, J.; Chen, P.; Chen, S.; Chung, M.; Nielsen, J.; Curtis, A.; Davies, D.; Day, J.; d'Avila, A.; de Groot, N.; Di Biase, L.; et al.
2017Causal effect of plasminogen activator inhibitor type 1 on coronary heart diseaseSong, C.; Burgess, S.; Eicher, J.; O'Donnell, C.; Johnson, A.; Huang, J.; Sabater-Lleal, M.; Asselbergs, F.; Tregouet, D.; Shin, S.; Ding, J.; Baumert, J.; Oudot-Mellakh, T.; Folkersen, L.; Smith, N.; Williams, S.; Ikram, M.; Kleber, M.; Becker, D.; Truong, V.; et al.
2018EVOLVE: The Australian Rheumatology Association’s ‘top five’ list of investigations and interventions doctors and patients should questionMorrisroe, K.; Nakayama, A.; Soon, J.; Arnold, M.; Barnsley, L.; Barrett, C.; Brooks, P.; Hall, S.; Hanrahan, P.; Hissaria, P.; Jones, G.; Katikireddi, V.; Keen, H.; Laurent, R.; Nikpour, M.; Poulsen, K.; Robinson, P.; Soden, M.; Wood, N.; Cook, N.; et al.
20182017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: executive summaryCalkins, H.; Hindricks, G.; Cappato, R.; Kim, Y.-H.; Saad, E.; Aguinaga, L.; Akar, J.; Badhwar, V.; Brugada, J.; Camm, J.; Chen, P.-S.; Chen, S.-A.; Chung, M.; Nielsen, J.; Curtis, A.; Davies, D.; Day, J.; d'Avila, A.; de Groot, N.; Di Biase, L.; et al.
2017Dominant protection from HLA-linked autoimmunity by antigen-specific regulatory T cellsOoi, J.; Petersen, J.; Tan, Y.; Huynh, M.; Willett, Z.; Ramarathinam, S.; Eggenhuizen, P.; Loh, K.; Watson, K.; Gan, P.; Alikhan, M.; Dudek, N.; Handel, A.; Hudson, B.; Fugger, L.; Power, D.; Holt, S.; Coates, P.; Gregersen, J.; Purcell, A.; et al.
2018The developing human connectome project: a minimal processing pipeline for neonatal cortical surface reconstructionMakropoulos, A.; Robinson, E.C.; Schuh, A.; Wright, R.; Fitzgibbon, S.; Bozek, J.; Counsell, S.J.; Steinweg, J.; Vecchiato, K.; Passerat-Palmbach, J.; Lenz, G.; Mortari, F.; Tenev, T.; Duff, E.P.; Bastiani, M.; Cordero-Grande, L.; Hughes, E.; Tusor, N.; Tournier, J.D.; Hutter, J.; et al.
2019The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancerFiglioli, G.; Bogliolo, M.; Catucci, I.; Caleca, L.; Lasheras, S.V.; Pujol, R.; Kiiski, J.I.; Muranen, T.A.; Barnes, D.R.; Dennis, J.; Michailidou, K.; Bolla, M.K.; Leslie, G.; Aalfs, C.M.; Balleine, R.; Baxter, R.; Braye, S.; Carpenter, J.; Dahlstrom, J.; Forbes, J.; et al.