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  • Darshana, L.G.T.; Manamperi, A.; Premawardhena, A.P. (In: Proceedings of the International Postgraduate Research Conference 2017 (IPRC – 2017), Faculty of Graduate Studies, University of Kelaniya, Sri Lanka., 2017)
    Sickle cell disease (SCD) is globally the commonest monogenic disease. Although the incidence is not as common as in India, it is found in Sri Lanka too. A recent hospital based survey identified around 60 patients in the ...
  • Manamperi, A.; Fernando, D.; Mahawithanage, S.; Wickremasinghe, R*.; Bandara, A.; Wellawatta, C.; Hapuarachchi, C.; Abeyewickreme, W.; Wickremasinghe, R. (Sri Lanka College of Microbiologists, 2008)
    INTRODUCTION: Plasmodim vivax malaria accounts for about 70% of all malaria infections in Sri Lanka. There is limited information on the genetic heterogeneity of P. vivax parasites in endemic areas of the country. OBJECTIVE: ...
  • Premaratna, R.; Blanton, L.; Samaraweera, D.N.; de Silva, G.N.N.; Kumara, T.A.D.N.; Liyanarachchi, M.S.; Weerasinghe, M.; Gunasekara, C.; Chandrasena, T.G.A.N.; Walker, D.; de Silva, H.J. (Sri Lanka Medical Association, 2014)
    INTRODUCTION AND OBJECTIVES: Genetic and antigenic characterisation of Orientia tsutsugamushi (OT) causing human disease in OT-endemic regions of Sri Lanka is not known. METHODS: Eschar biopsies (in age> 18 years} and buffy ...
  • de Silva, D. (Sri Lanka Medical Association, 2004)
    Genetic testing for single gene disorders is becoming available in Sri Lanka. While it offers many benefits, there are concerns about psychological and social problems that can be a consequence of such tests. This article ...
  • Niriella, M.A.; Kasturiratne, A.; Akiyama, K.; Takeuchi, F.; Isono, M.; Dassanayake, A.S.; de Silva, A.P.; Wickremasinghe, A.R.; Kato, N.; de Silva, H.J. (Wiley Blackwell Scientific Publications, 2013)
    OBJECTIVE: Recently, genome-wide association studies (GWAS) have successfully identified loci associated with susceptibility to non-alcoholic fatty liver disease (NAFLD) in populations of European descent. No large-scale ...
  • Jayaratne, D.L.; de Silva, B.A.C.; Silva, W.P.K. (University of Kelaniya, 2012)
    Cylindrocladium quinqueseptatum (Boedijn & Reitsma 1950) is one of the major plant pathogenic fungi that infects a wide range of plants in humid tropics. The prevailing strains in Sri Lanka cause the foliage and shoot ...
  • Wijerathna, T.; Gunathilaka, N.; Rodrigo, W, (Wolters Kluwer Medknow Publications, 2022)
    OBJECTIVE: To identity the variation of sand flies in the Gampaha and Kurunegala districts of Sri Lanka and to assess DNA barcoding as a complementing method for morphological identification. METHODS: A total of 38 441 ...
  • Smits, S.L.; Poon, L.L.M.; van Leeuwen, M.; Lau, P.N.; Perera, H.K.K.; Peiris, J.S.M.; Simon, J.H.; Osterhaus, A.D.M.E. (Centers for Disease Control and Prevention, 2011)
    ABSTRACT: Sequence-independent amplification and specific reverse transcription PCRs identified genogroup I and II picobirnaviruses in respiratory tracts of pigs. These data expand knowledge of picobirnavirus diversity and ...
  • 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 ...

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