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  • Badat, M.; Mettananda, S.; Hua, P.; Schwessinger, R.; Hughes, J.; Higgs, D.; Davies, J. (Oxford University Press, 2019)
    AIM: Thalassaemia is commonly due to mutations at the beta globin (HBB) locus, and this causes transfusion dependent anaemia in severe cases. A key pathophysiological factor is the imbalance of alpha and beta globin ...
  • Wickramatunga, P.G.T.S.; Gunawardene, Y.I.N.S.; Chandrasekharan, N.V.; Dassanayake, R.S. (Elsevier Inc., 2022)
    Setaria digitata, a nematode that lives in the peritoneal cavity of ruminants is the causative agent of cerebrospinal nematodiasis affecting livestock health. The ‘ACAT related enzyme 2 required for viability 1’ (arv-1) ...
  • Elsner, J.; Mensah, M.A.; Holtgrewe, M.; Hertzberg, J.; Bigoni, S.; Busche, A.; Coutelier, M.; de Silva, D.C.; Elçioglu, N.; Filges, I.; Gerkes, E.; Girisha, K.M.; Graul-Neumann, L.; Jamsheer, A.; Krawitz, P.; Kurth, I.; Markus, S.; Megarbane, A.; Reis, A.; Reuter, M.S.; Svoboda, D.; Teller, C.; Tuysuz, B.; Türkmen, S.; Wilson, M.; Woitschach, R.; Vater, I.; Caliebe, A.; Hülsemann, W.; Horn, D.; Mundlos, S.; Spielmann, M. (Springer-Verlag., 2021)
    ABSTRACT: The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all genetic ...
  • Gunawardene, Y.I.N.S. (Author, 2009)
    No abstract available
  • Kooner, J.S.; Saleheen, D.; Sim, X.; Sehmi, J.; Zhang, W.; Frossard, P.; Been, L.F.; Chia, K.S.; Dimas, A.S.; Hassanali, N.; Jafar, T.; Jowett, J.B.; Li, X.; Radha, V.; Rees, S.D.; Takeuchi, F.; Young, R.; Aung, T.; Basit, A.; Chidambaram, M.; Das, D.; Grundberg, E.; Hedman, A.K.; Hydrie, Z.I.; Islam, M.; Khor, C.C.; Kowlessur, S.; Kristensen, M.M.; Liju, S.; Lim, W.Y.; Matthews, D.R.; Liu, J.; Morris, A.P.; Nica, A.C.; Pinidiyapathirage, M.J.; Prokopenko, I.; Rasheed, A.; Samuel, M.; Shah, N.; Shera, A.S.; Small, K.S.; Suo, C.; Wickremasinghe, A.R.; Wong, T.Y.; Yang, M.; Zhang, F. (Nature Publishing Company, 2011)
    We carried out a genome-wide association study of type-2 diabetes (T2D) in individuals of South Asian ancestry. Our discovery set included 5,561 individuals with T2D (cases) and 14,458 controls drawn from studies in London, ...
  • Mahajan, A.; Go, M.J.; Zhang, W.; Below, J.E.; Gaulton, K.J.; Ferreira, T.; Horikoshi, M.; Johnson, A.D.; Ng, M.C.; Prokopenko, I.; Saleheen, D.; Wang, X.; Zeggini, E.; Abecasis, G.R.; Adair, L.S.; Almgren, P.; Atalay, M.; Aung, T.; Baldassarre, D.; Balkau, B.; Bao, Y.; Barnett, A.H.; Barroso, I.; Basit, A.; Been, L.F.; Beilby, J.; Bell, G.I.; Benediktsson, R.; Bergman, R.N.; Boehm, B.O.; Boerwinkle, E.; Bonnycastle, L.L.; Burtt, N.; Cai, Q.; Campbell, H.; Carey, J.; Cauchi, S.; Caulfield, M.; Chan, J.C.; Chang, L.C.; Chang, T.J.; Chang, Y.C.; Charpentier, G.; Chen, C.H.; Chen, H.; Chen, Y.T.; Chia, K.S.; Chidambaram, M.; Chines, P.S.; Cho, N.H.; Cho, Y.M.; Chuang, L.M.; Collins, F.S.; Cornelis, M.C.; Couper, D.J.; Crenshaw, A.T.; van Dam, R.M.; Danesh, J.; Das, D.; de Faire, U.; Dedoussis, G.; Deloukas, P.; Dimas, A.S.; Dina, C.; Doney, A.S.; Donnelly, P.J.; Dorkhan, M.; van Duijn, C.; Dupuis, J.; Edkins, S.; Elliott, P.; Emilsson, V.; Erbel, R.; Eriksson, J.G.; Escobedo, J.; Esko, T.; Eury, E.; Florez, J.C.; Fontanillas, P.; Forouhi, N.G.; Forsen, T.; Fox, C.; Fraser, R.M.; Frayling, T.M.; Froguel, P.; Frossard, P.; Gao, Y.; Gertow, K.; Gieger, C.; Gigante, B.; Grallert, H.; Grant, G.B.; Grrop, L.C.; Groves, C.J.; Grundberg, E.; Guiducci, C.; Hamsten, A.; Han, B.G.; Hara, K.; Hassanali, N.; Hattersley, A.T.; Hayward, C.; Hedman, A.K.; Herder, C.; Hofman, A.; Holmen, O.L.; Hovingh, K.; Hreidarsson, A.B.; Hu, C.; Hu, F.B.; Hui, J.; Humphries, S.E.; Hunt, S.E.; Hunter, D.J.; Hveem, K.; Hydrie, Z.I.; Ikegami, H.; Illig, T.; Ingelsson, E.; Islam, M.; Isomaa, B.; Jackson, A.U.; Jafar, T.; James, A.; Jia, W.; Jöckel, K.H.; Jonsson, A.; Jowett, J.B.; Kadowaki, T.; Kang, H.M.; Kanoni, S.; Kao, W.H.; Kathiresan, S.; Kato, N.; Katulanda, P.; Keinanen-Kiukaanniemi, K.M.; Kelly, A.M.; Khan, H.; Khaw, K.T.; Khor, C.C.; Kim, H.L.; Kim, S.; Kim, Y.J.; Kinnunen, L.; Klopp, N.; Kong, A.; Korpi-Hyövälti, E.; Kowlessur, S.; Kraft, P.; Kravic, J.; Kristensen, M.M.; Krithika, S.; Kumar, A.; Kumate, J.; Kuusisto, J.; Kwak, S.H.; Laakso, M.; Lagou, V.; Lakka, T.A.; Langenberg, C.; Langford, C.; Lawrence, R.; Leander, K.; Lee, J.M.; Lee, N.R.; Li, M.; Li, X.; Li, Y.; Liang, J.; Liju, S.; Lim, W.Y.; Lind, L.; Lindgren, C.M.; Lindholm, E.; Liu, C.T.; Liu, J.J.; Lobbens, S.; Long, J.; Loos, R.J.; Lu, W.; Luan, J.; Lyssenko, V.; Ma, R.C.; Maeda, S.; Mägi, R.; Männisto, S.; Matthews, D.R.; Meigs, J.B.; Melander, O.; Metspalu, A.; Meyer, J.; Mirza, G.; Mihailov, E.; Moebus, S.; Mohan, V.; Mohlke, K.L.; Morris, A.D.; Mühleisen, T.W.; Müller-Nurasyid, M.; Musk, B.; Nakamura, J.; Nakashima, E.; Navarro, P.; Ng, P.K.; Nica, A.C.; Nilsson, P.M.; Njolstad, I.; Nöthen, M.M.; Ohnaka, K.; Ong, T.H.; Owen, K.R.; Palmer, C.N.; Pankow, J.S.; Park, K.S.; Parkin, M.; Pechlivanis, S.; Pedersen, N.L.; Peltonen, L.; Perry, J.R.; Peters, A.; Pinidiyapathirage, J.M.; Platou, C.G.; Potter, S.; Price, J.F.; Qi, L.; Radha, V.; Rallidis, L.; Rasheed, A.; Rathman, W.; Rauramaa, R.; Raychaudhuri, S.; Rayner, N.W.; Rees, S.D.; Rehnberg, E.; Ripatti, S.; Robertson, N.; Roden, M.; Rossin, E.J.; Rudan, I.; Rybin, D.; Saaristo, T.E.; Salomaa, V.; Saltevo, J.; Samuel, M.; Sanghera, D.K.; Saramies, J.; Scott, J.; Scott, L.J.; Scott, R.A.; Segrè, A.V.; Sehmi, J.; Sennblad, B.; Shah, N.; Shah, S.; Shera, A.S.; Shu, X.O.; Shuldiner, A.R.; Sigurdsson, G.; Sijbrands, E.; Silveira, A.; Sim, X.; Sivapalaratnam, S.; Small, K.S.; So, W.Y.; Stancáková, A.; Stefansson, K.; Steinbach, G.; Steinthorsdottir, V.; Stirrups, K.; Strawbridge, R.J.; Stringham, H.M.; Sun, Q.; Suo, C.; Syvänen, A.C.; Takayanagi, R.; Takeuchi, F.; Tay, W.T.; Teslovich, T.M.; Thorand, B.; Thorleifsson, G.; Thorsteinsdottir, U.; Tikkanen, E.; Trakalo, J.; Tremoli, E.; Trip, M.D.; Tsai, F.J.; Tuomi, T.; Tuomilehto, J.; Uitterlinden, A.G.; Valladares-Salgado, A.; Vedantam, S.; Veglia, F.; Voight, B.F.; Wang, C.; Wareham, N.J.; Wennauer, R.; Wickremasinghe, A.R.; Wilsgaard, T.; Wilson, J.F.; Wiltshire, S.; Winckler, W.; Wong, T.Y.; Wood, A.R.; Wu, J.Y.; Wu, Y.; Yamamoto, K.; Yamauchi, T.; Yang, M.; Yengo, L.; Yokota, M.; Young, R.; Zabaneh, D.; Zhang, F.; Zhang, R.; Zheng., W.; Zimmet, P.Z.; Altshuler, D.; Bowden, D.W.; Cho, Y.S.; Cox, N.J.; Cruz, M.; Hanis, C.L.; Kooner, J.; Lee, J.Y.; Seielstad, M.; Teo, Y.Y.; Boehnke, M.; Parra, E.J.; Chambers, J.C.; Tai, E.S.; McCarthy, M.I.; Morris, A.P. (Nature Publishing Company, 2014)
    To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, ...
  • Kato, N. (Faculty of Medicine, University of Kelaniya, Sri Lanka, 2016)
    Recently, non-communicable diseases (NCDs), in particular, lifestyle-related diseases have become a key issue of public health in the developing countries. A new understanding of NCDs has emerged from genome-wide association ...
  • Armuzzi, A.; Ahamad, T.; Ling, K. L.; de Silva, A.; Cullen, S.; van Heel, D.; Orchard, T. R.; Welsh, K. I.; Marshall, S. E.; Jewell, D. P. (British Medical Assosiation, 2003)
    BACKGROUND AND AIMS: Recent molecular data suggest that genetic factors may underlie the disease heterogeneity observed in both ulcerative colitis (UC) and Crohn's disease (CD). A locus on chromosome 5q has been implicated ...
  • Perera, S.; Allen, A.; Silva, I.; Hapugoda, M.; Wickramarathne, M.N.; Wijesiriwardena, I.; Allen, S.; Rees, D.; Efremov, D.G.; Fisher, C.A.; Weatherall, D.J.; Premawardhena, A. (Nature Publishing Group, 2019)
    β thalassaemia intermedia (βTI) are a heterogeneous group of disorders known to be extremely phenotypically diverse. This group is more complex to manage as no definitive treatment guidelines exist unlike for β thalassaemia ...
  • Bornholdt, D.; Atkinson, T.P.; Bouadjar, B.; Catteau, B.; Cox, H.; de Silva, D.; Fischer, J.; Gunasekera, C.N.; Hadj-Rabia, S.; Happle, R.; Holder-Espinasse, M.; Kaminski, E.; Konig, A.; Megarbane, A.; Megarbane, H.; Neidel, U.; Oeffner, F.; Oji, V.; Theos, A.; Traupe, H.; Vahlquist, A.; van Bon, B.W.; Virtanen, M.; Grzeschik, K.H. (Wiley, 2013)
    Missense mutations affecting membrane-bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) syndrome with or without BRESHECK syndrome, ...
  • Premaratna, R.; Blanton, L.S.; Samaraweera, D.N.; de Silva, G.N.N.; Chandrasena, T.G.A.N.; Walker, D.H.; de Silva, H.J. (BioMed Central, 2017)
    BACKGROUND: To date more than 20 antigenically distinct strains of Orientia tsutsugamushi (OT) reported within the tsutsugamushi triangle that cause an undifferentiated acute febrile illness in humans. Genotypic ...
  • Manamperi, A.; Sanath, M.; Fernando, D.; Wickremasinghe, R.; Anura, B.; Hapuarachchi, C.; Abeyewickreme, W.; Wickremasinghe, A.R. (Malaysian Society of Parasitology and Tropical Medicine, 2008)
    Plasmodim vivax malaria accounts for more than 90% of malaria cases in Sri Lanka. There is limited information on the genetic heterogeneity of P. vivax in endemic areas of the country. Here we have assessed the potential ...
  • Sirisena, H. (Faculty of Humanities, University of Kelaniya, Sri Lanka, 2009)
  • Dubovikoff, D.A.; Terekhova, A.V. (Department of Zoology and Environmental Management, University of Kelaniya, 2015)
  • Fernando, S.D.; Goonethilleke, H.; Weerasena, K.H.; Kuruppuarachchi, N.D.; Tilakaratne, D.; de Silva, D.; Wickremasinghe, A.R. (SEAMEO Regional Tropical Medicine and Public Health Project, 2001)
    School children carry the heaviest burden of morbidity due to intestinal helminth infection. The objective of this investigation was to study geo-helminth infections in 349 school children aged 6 to 13 years living in a ...
  • Sumedha, K.; Fernando, W.V.N. (University of Kelaniya, 2008)
  • Pathiraja, K.; Premadasa, S.; Gnanasinghe, S.; Wadasinghe, L. G. Y. J. G.; Weerasinghe, V. P. A. (Research Symposium on Pure and Applied Sciences, 2018 Faculty of Science, University of Kelaniya, Sri Lanka, 2018)
    Dengue is one of the most prevalent arthropod borne virus affecting human. There are four serotypes that manifest with similar symptoms and two main vectors identified in Sri Lanka named as Aedes aegypti and Aedes albopictus. ...
  • Jayarahthe, M.; Dayaratne, W.J.M.; Dissanayake, A.M.C. (International Postgraduate Research Conference 2019, Faculty of Graduate Studies, University of Kelaniya, Sri Lanka, 2019)
    Mining is one of the main methods to extract mineral resources. This research carried out to identify the loss of land and land-use changes due to clay and sand mining in the lower Ma-Oya river bank of Katana Divisional ...

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