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PreviewIssue DateTitleAuthor(s)
1998Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3Centola, M.; Chen, X.; Sood, R.; Deng, Z.; Aksentijevich, I.; Blake, T.; Ricke, D.; Chen, X.; Wood, G.; Zaks, N.; Richards, N.; Krizman, D.; Mansfield, E.; Apostolou, S.; Liu, J.; Shafran, N.; Vedula, A.; Hamon, M.; Cercek, A.; Kahan, T.; et al.
2020Genetic comorbidity between major depression and cardio-metabolic traits, stratified by age at onset of major depressionHagenaars, S.P.; Coleman, J.R.I.; Choi, S.W.; Gaspar, H.; Adams, M.J.; Howard, D.M.; Hodgson, K.; Traylor, M.; Air, T.M.; Andlauer, T.F.M.; Arolt, V.; Baune, B.T.; Binder, E.B.; Blackwood, D.H.R.; Boomsma, D.I.; Campbell, A.; Cearns, M.; Czamara, D.; Dannlowski, U.; Domschke, K.; et al.
2018A global cline in a colour polymorphism suggests a limited contribution of gene flow towards the recovery of a heavily exploited marine mammalHoffman, J.I.; Bauer, E.; Paijmans, A.J.; Humble, E.; Beckmann, L.M.; Kubetschek, C.; Christaller, F.; Kröcker, N.; Fuchs, B.; Moreras, A.; Shihlomule, Y.D.; Bester, M.N.; Cleary, A.C.; De Bruyn, P.J.N.; Forcada, J.; Goebel, M.E.; Goldsworthy, S.D.; Guinet, C.; Hoelzel, A.R.; Lydersen, C.; et al.
2017YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunctionGabriele, M.; Vulto-van Silfhout, A.; Germain, P.; Vitriolo, A.; Kumar, R.; Douglas, E.; Haan, E.; Kosaki, K.; Takenouchi, T.; Rauch, A.; Steindl, K.; Frengen, E.; Misceo, D.; Pedurupillay, C.; Stromme, P.; Rosenfeld, J.; Shao, Y.; Craigen, W.; Schaaf, C.; Rodriguez-Buritica, D.; et al.
2021Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variantsPham, D.H.; Pitman, M.R.; Sharma, R.; Jolly, L.; Schulz, R.; Gardner, A.; de Nys, R.; Heron, S.E.; Corbett, M.A.; Kothur, K.; Gill, D.; Rajagopalan, S.; Kolc, K.; Halliday, B.J.; Robertson, S.P.; Regan, B.M.; Kirsch, H.E.; Berkovic, S.F.; Scheffer, I.E.; Pitson, S.M.; et al.
2020Parental experiences of ultrarapid genomic testing for their critically unwell infants and childrenBrett, G.R.; Martyn, M.; Lynch, F.; de Silva, M.G.; Ayres, S.; Gallacher, L.; Boggs, K.; Baxendale, A.; Schenscher, S.; King-Smith, S.; Fowles, L.; Springer, A.; Lunke, S.; Vasudevan, A.; Krzesinski, E.; Pinner, J.; Sandaradura, S.A.; Barnett, C.; Patel, C.; Wilson, M.; et al.
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
2011Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1Bown, M.J.; Jones, G.T.; Harrison, S.C.; Wright, B.J.; Bumpstead, S.; Baas, A.F.; Gretarsdottir, S.; Badger, S.A.; Bradley, D.T.; Burnand, K.; Child, A.H.; Clough, R.E.; Cockerill, G.; Hafez, H.; Scott, D.J.A.; Futers, S.; Johnson, A.; Sohrabi, S.; Smith, A.; Thompson, M.M.; et al.
2019Quantifying between-cohort and between-sex genetic heterogeneity in major depressive disorderTrzaskowski, M.; Mehta, D.; Peyrot, W.J.; Hawkes, D.; Davies, D.; Howard, D.M.; Kemper, K.E.; Sidorenko, J.; Maier, R.; Ripke, S.; Mattheisen, M.; Baune, B.T.; Grabe, H.J.; Heath, A.C.; Jones, L.; Jones, I.; Madden, P.A.F.; McIntosh, A.M.; Breen, G.; Lewis, C.M.; et al.
2017Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencingJansen, I.E.; Ye, H.; Heetveld, S.; Lechler, M.C.; Michels, H.; Seinstra, R.I.; Lubbe, S.J.; Drouet, V.; Lesage, S.; Majounie, E.; Gibbs, J.R.; Nalls, M.A.; Ryten, M.; Botia, J.A.; Vandrovcova, J.; Simon-Sanchez, J.; Castillo-Lizardo, M.; Rizzu, P.; Blauwendraat, C.; Chouhan, A.K.; et al.