All Stories

  1. Pharmacogenomic variants affecting efficacy and safety of medicines acting on central nervous system among Sri Lankans

    Article • Pharmacogenomics, September 2025, Taylor & Francis

    Dr. Priyanga Ranasinghe, Professor Vajira H. W. Dissanayake

  2. Telehealth in Sri Lanka: stakeholder perspectives on knowledge, practices, and future requirements

    Article • Journal of the Postgraduate Institute of Medicine, May 2025, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  3. A milestone in physiotherapy education: Journey of the BSc Honours in Physiotherapy degree programme in University of Colombo

    Article • Sri Lanka Journal of Physiotherapy and Rehabilitation Sciences, April 2025, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  4. Knowledge and Perception of Artificial Intelligence in Medicine Among Undergraduate Medical Students in Sri Lanka: A Cross Sectional Study

    Article • April 2025, IOS Press

    Professor Vajira H. W. Dissanayake

  5. Pharmacogenomic profiling of variants affecting efficacy and toxicity of anti-infective medicines in a south Asian population from Sri Lanka

    Article • BMC Infectious Diseases, February 2025, Springer Science + Business Media

    Dr. Priyanga Ranasinghe, Professor Vajira H. W. Dissanayake

  6. First reported case of Dent Disease Type 2 in a Trisomy 21 child

    Article • Rare, January 2025, Elsevier

    Professor Vajira H. W. Dissanayake

  7. CYP2C19 and CES1 gene variants affecting clopidogrel metabolism in a South Asian population from Sri Lanka

    Article • Pharmacogenomics, December 2024, Taylor & Francis

    Dr. Priyanga Ranasinghe, Professor Vajira H. W. Dissanayake

  8. Pharmacogenomics in Sri Lanka: a comprehensive systematic review of the research landscape and clinical implications

    Article • Pharmacogenomics, September 2024, Taylor & Francis

    Dr. Priyanga Ranasinghe, Professor Vajira H. W. Dissanayake

  9. Frequency of pharmacogenomic variants affecting efficacy and safety of anti-cancer drugs in a south Asian population from Sri Lanka

    Article • BMC Medical Genomics, May 2024, Springer Science + Business Media

    Dr. Priyanga Ranasinghe, Professor Vajira H. W. Dissanayake

  10. Cohort Profile: The Sri Lanka Health and Ageing Study (SLHAS)

    Article • International Journal of Epidemiology, February 2024, Oxford University Press (OUP)

    Professor Vajira H. W. Dissanayake

  11. Unique presentation of pycnodysostosis with multisuture craniosynostosis in a Sri Lankan child: a case report

    Article • January 2024, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  12. Breast cancer surveillance in BRCA positive Sri Lankan women: health equity for a high-risk group at a limited resource setting

    Article • BMC Women s Health, November 2023, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  13. Pharmacogenomic Variants Affecting Efficacy and Toxicity of Statins in a South Asian Population from Sri Lanka

    Article • Pharmacogenomics, October 2023, Taylor & Francis

    Dr. Priyanga Ranasinghe, Professor Vajira H. W. Dissanayake

  14. Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators

    Article • Frontiers in Public Health, September 2023, Frontiers

    Professor Vajira H. W. Dissanayake

  15. The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study

    Article • Orphanet Journal of Rare Diseases, September 2023, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  16. Spontaneous coronary artery dissection with leucoencephalopathy associated with thrombospondin Type 1 domain containing 1 gene mutation: a case report

    Article • European Heart Journal - Case Reports, August 2023, Oxford University Press (OUP)

    Professor Vajira H. W. Dissanayake

  17. Author Correction: A comprehensive analysis of chromosomal polymorphic variants on reproductive outcomes after intracytoplasmic sperm injection treatment

    Article • Scientific Reports, June 2023, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  18. Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer

    Article • BMC Research Notes, June 2023, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  19. The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study

    Article • May 2023, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  20. Clinical Exome Gene Panel Analysis of a Cohort of Urothelial Bladder Cancer Patients from Sri Lanka

    Article • Asian Pacific Journal of Cancer Prevention, May 2023, EpiSmart Science Vector Ltd

    Professor Vajira H. W. Dissanayake

  21. The Design and Implementation of a Novel Pharmacogenomic Assay to Genotype the CYP3A53 (rs776746) and CYP3A51E (rs4646453) Genetic Variants

    Article • April 2023, Research Square

    Professor Vajira H. W. Dissanayake

  22. Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

    Article • Frontiers in Public Health, March 2023, Frontiers

    Professor Vajira H. W. Dissanayake

  23. The first genetically authenticated case of Leber hereditary optic neuropathy in Sri Lanka: a case report and review of the literature

    Article • Journal of Medical Case Reports, February 2023, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  24. Covid-19

    Article • December 2022, Taylor & Francis

    Professor Vajira H. W. Dissanayake

  25. Diversity of Pharmacogenomic Variants Affecting Warfarin Metabolism in Sri Lankans

    Article • Pharmacogenomics, October 2022, Taylor & Francis

    Dr. Priyanga Ranasinghe, Professor Vajira H. W. Dissanayake

  26. A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

    Article • Clinical Genetics, August 2022, Wiley

    Reza maroofian, Professor Vajira H. W. Dissanayake

  27. Frequency of Hereditary Hemochromatosis Gene (HFE) Variants in Sri Lankan Transfusion-Dependent Beta-Thalassemia Patients and Their Association With the Serum Ferritin Level

    Article • Frontiers in Pediatrics, July 2022, Frontiers

    Professor Vajira H. W. Dissanayake

  28. An International Genomics Health Workforce Education Priorities Assessment

    Article • Personalized Medicine, June 2022, Taylor & Francis

    Professor Vajira H. W. Dissanayake

  29. Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes

    Article • BMC Pediatrics, June 2022, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  30. Modification and Validation of a Maturity Assessment Tool for Public Health Information System Implementations in Sri Lanka

    Article • June 2022, IOS Press

    Professor Vajira H. W. Dissanayake

  31. APAMI

    Article • Yearbook of Medical Informatics, June 2022, Thieme Publishing Group

    Professor Vajira H. W. Dissanayake

  32. Genome-wide linkage search for cancer susceptibility loci in a cohort of non BRCA1/2 families in Sri Lanka

    Article • BMC Research Notes, June 2022, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  33. Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis

    Article • Orphanet Journal of Rare Diseases, May 2022, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  34. Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys

    Article • BMC Medical Genomics, April 2022, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  35. Design and implementation of a novel pharmacogenetic assay for the identification of the CYP2D6*10 genetic variant

    Article • BMC Research Notes, March 2022, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  36. A novel mutation of SLC12A3 gene causing Gitelman syndrome

    Article • SAGE Open Medical Case Reports, January 2022, SAGE Publications

    Professor Vajira H. W. Dissanayake

  37. Mitochondrial diseases in South Asia – A systematic review

    Article • Mitochondrion, January 2022, Elsevier

    Professor Vajira H. W. Dissanayake

  38. Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)

    Article • Genetics in Medicine, July 2021, Elsevier

    Professor Vajira H. W. Dissanayake

  39. Assessment of Iron Overload in a Cohort of Sri Lankan Patients with Transfusion Dependent Beta Thalassaemia and its Correlation with Pathogenic Variants in HBB, HFE, SLC40A1, and TFR2 Genes

    Article • June 2021, Research Square

    Professor Vajira H. W. Dissanayake

  40. Copy Number Variants Captured by the Array Comparative Genomic Hybridization in a Cohort of Patients Affected with Hereditary Colorectal Cancer in Sri Lanka: The First CNV Analysis Study of the Hereditary Colorectal Cancer in the Sri Lankan Population

    Article • Asian Pacific Journal of Cancer Prevention, June 2021, EpiSmart Science Vector Ltd

    Professor Vajira H. W. Dissanayake

  41. Comparative Analysis of the Genetic Variants in Haematopoietic Stem/Progenitor and Mesenchymal Stem Cell Compartments in de novo Myelodysplastic Syndromes

    Article • Blood Cells Molecules and Diseases, May 2021, Elsevier

    Professor Vajira H. W. Dissanayake

  42. A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

    Article • BMC Neurology, March 2021, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  43. A Concise Review of Ketogenic Dietary Interventions in the Management of Rare Diseases

    Article • Journal of Nutrition and Metabolism, February 2021, Wiley

    Professor Vajira H. W. Dissanayake

  44. Frontometaphyseal dysplasia 1 in a patient from Sri Lanka

    Article • American Journal of Medical Genetics Part A, December 2020, Wiley

    Professor Vajira H. W. Dissanayake

  45. Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

    Article • Case Reports in Genetics, December 2020, Wiley

    Professor Vajira H. W. Dissanayake

  46. Rubinstein–Taybi syndrome in diverse populations

    Article • American Journal of Medical Genetics Part A, September 2020, Wiley

    Professor Vajira H. W. Dissanayake

  47. Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report

    Article • BMC Medical Genetics, August 2020, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  48. Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay

    Article • Breast Cancer Research, May 2020, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  49. Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

    Article • BMC Research Notes, January 2020, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  50. Turner syndrome in diverse populations

    Article • American Journal of Medical Genetics Part A, December 2019, Wiley

    Andre Megarbane, Professor Vajira H. W. Dissanayake

  51. A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease

    Article • The American Journal of Human Genetics, December 2019, Elsevier

    Professor Vajira H. W. Dissanayake

  52. Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes

    Article • Case Reports in Genetics, November 2019, Hindawi Publishing Corporation

    Sajeewani Pathirana, Professor Vajira H. W. Dissanayake

  53. Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

    Article • BMC Research Notes, November 2019, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  54. Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature

    Article • BMC Endocrine Disorders, October 2019, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  55. Strategies for Genomic Medicine Education in Low- and Middle-Income Countries

    Article • Frontiers in Genetics, October 2019, Frontiers

    Professor Vajira H. W. Dissanayake

  56. Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome

    Article • Journal of Autism and Developmental Disorders, September 2019, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  57. Electrophoretic mobility shift assays implicate XRCC2:rs3218550C>T as a potential low-penetrant susceptibility allele for sporadic breast cancer

    Article • BMC Research Notes, August 2019, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  58. Genotype data for single nucleotide polymorphism markers in sporadic breast cancer related genes in a Sri Lankan case–control cohort of postmenopausal women

    Article • BMC Research Notes, July 2019, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  59. A novel variant in SCN1A gene associated with Dravet syndrome

    Article • Seizure, July 2019, Elsevier

    Professor Vajira H. W. Dissanayake

  60. Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

    Article • BMC Medical Genetics, June 2019, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  61. Double aneuploidy in three children

    Article • Sri Lanka Journal of Child Health, June 2019, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  62. Genetics and genomic medicine in Sri Lanka

    Article • Molecular Genetics & Genomic Medicine, May 2019, Wiley

    Professor Vajira H. W. Dissanayake

  63. The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans

    Article • BioMed Research International, April 2019, Hindawi Publishing Corporation

    Professor Vajira H. W. Dissanayake

  64. Cornelia de Lange syndrome in diverse populations

    Article • American Journal of Medical Genetics Part A, January 2019, Wiley

    Andre Megarbane, Professor Vajira H. W. Dissanayake

  65. ‘Hybrid Doctors’ Can Fast Track the Evolution of a Sustainable e-Health Ecosystem in Low Resource Contexts: The Sri Lankan Experience

    Article • January 2019, IOS Press

    Professor Vajira H. W. Dissanayake

  66. Strengthening health systems through informatics capacity development among doctors in low-resource contexts: the Sri Lankan experience

    Article • WHO South-East Asia Journal of Public Health, January 2019, Medknow

    Professor Vajira H. W. Dissanayake

  67. The spectrum of deletions and duplications in the dystrophin (DMD) gene in a cohort of patients with Duchenne muscular dystrophy in Sri Lanka

    Article • Neurology India, January 2019, Medknow

    Professor Vajira H. W. Dissanayake

  68. Genetic associations of inflammatory bowel disease in a South Asian population

    Article • World Journal of Clinical Cases, December 2018, Baishideng Publishing Group Co., Limited (formerly WJG Press)

    Professor Vajira H. W. Dissanayake

  69. Relative normalized luciferase activity for the recombinant vector constructs carrying the ancestral and variant alleles for XRCC2:rs3218550 and PHB:rs6917

    Article • BMC Research Notes, September 2018, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  70. Population Screening for Hemoglobinopathies

    Article • Annual Review of Genomics and Human Genetics, August 2018, Annual Reviews

    Professor Vajira H. W. Dissanayake

  71. Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly

    Article • BMC Medical Genetics, July 2018, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  72. A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter

    Article • Case Reports in Pediatrics, July 2018, Hindawi Publishing Corporation

    Professor Vajira H. W. Dissanayake, Sajeewani Pathirana

  73. Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report

    Article • BMC Medical Genetics, May 2018, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  74. A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

    Article • BMC Medical Genomics, May 2018, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  75. Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report

    Article • Lipids in Health and Disease, May 2018, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  76. Williams-Beuren syndrome in diverse populations

    Article • American Journal of Medical Genetics Part A, April 2018, Wiley

    Dr. Rupesh Mishra , Professor Vajira H. W. Dissanayake, Dr Nirmala Dushyanthi Sirisena, Engela Honey, Andre Megarbane

  77. A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)

    Article • Clinical Case Reports, April 2018, Wiley

    Sajeewani Pathirana, Professor Vajira H. W. Dissanayake

  78. Genetic determinants of sporadic breast cancer in Sri Lankan women

    Article • BMC Cancer, February 2018, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  79. Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature

    Article • BMC Pediatrics, January 2018, Springer Science + Business Media

    Dr. Rupesh Mishra , Professor Vajira H. W. Dissanayake

  80. Susceptible and Prognostic Genetic Factors Associated with Diabetic Peripheral Neuropathy: A Comprehensive Literature Review

    Article • International Journal of Endocrinology, January 2018, Hindawi Publishing Corporation

    Professor Vajira H. W. Dissanayake

  81. Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women

    Article • Journal of Breast Cancer, January 2018, XMLink

    Professor Vajira H. W. Dissanayake

  82. The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report

    Article • BMC Research Notes, October 2017, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  83. The pattern of KRAS mutations in metastatic colorectal cancer: a retrospective audit from Sri Lanka

    Article • BMC Research Notes, August 2017, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  84. Noonan syndrome in diverse populations

    Article • American Journal of Medical Genetics Part A, July 2017, Wiley

    Professor Vajira H. W. Dissanayake, Dr Nirmala Dushyanthi Sirisena, Dr. Rupesh Mishra , Engela Honey, Andre Megarbane

  85. Variants of ACAN are associated with severity of lumbar disc herniation in patients with chronic low back pain

    Article • PLOS One, July 2017, PLOS

    Dr. Romain S Perera, Professor Vajira H. W. Dissanayake

  86. HbS/D-Punjab Disease: Report of 3 Cases from Sri Lanka

    Article • Indian Journal of Hematology and Blood Transfusion, July 2017, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  87. Focusing attention on ancestral diversity within genomics research: a potential means for promoting equity in the provision of genomics based healthcare services in developing countries

    Article • Journal of Community Genetics, July 2017, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  88. Genetic determinants of inherited susceptibility to hypercholesterolemia – a comprehensive literature review

    Article • Lipids in Health and Disease, June 2017, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  89. Associations between disc space narrowing, anterior osteophytes and disability in chronic mechanical low back pain: a cross sectional study

    Article • BMC Musculoskeletal Disorders, May 2017, Springer Science + Business Media

    Dr. Romain S Perera, Professor Vajira H. W. Dissanayake

  90. Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report

    Article • BMC Nephrology, April 2017, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  91. The INSR rs2059806 single nucleotide polymorphism, a genetic risk factor for vascular and metabolic disease, associates with pre-eclampsia

    Article • Reproductive BioMedicine Online, April 2017, Elsevier

    Professor Vajira H. W. Dissanayake

  92. 22q11.2 deletion syndrome

    Article • American Journal of Medical Genetics Part A, March 2017, Wiley

    Dr Nirmala Dushyanthi Sirisena, Dr. Rupesh Mishra , Professor Vajira H. W. Dissanayake

  93. Single Nucleotide Variants of Candidate Genes in Aggrecan Metabolic Pathway Are Associated with Lumbar Disc Degeneration and Modic Changes

    Article • PLOS One, January 2017, PLOS

    Dr. Romain S Perera, Professor Vajira H. W. Dissanayake

  94. Down syndrome in diverse populations

    Article • American Journal of Medical Genetics Part A, December 2016, Wiley

    Professor Vajira H. W. Dissanayake

  95. A case series of 7 Sri Lankan patients with type 1 spinal muscular atrophy

    Article • Sri Lanka Journal of Child Health, December 2016, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  96. The utility of hematopoietic stem cell karyotyping in the diagnosis of de novo myelodysplastic syndromes

    Article • Journal of Hematopathology, September 2016, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  97. Optimizing amniotic membrane tissue banking protocols for ophthalmic use

    Article • Cell and Tissue Banking, July 2016, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  98. Correspondence

    Article • World Journal of Pediatrics, June 2016, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  99. HLA-B27 allele frequency in Sri Lankan patients with spondyloarthritides

    Article • Ceylon Medical Journal, June 2016, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  100. Effect of human genes in developing cutaneous leishmaniasis

    Article • BMC Infectious Diseases, June 2016, Springer Science + Business Media

    Prof. Nadira D. Karunaweera, Dr Nilakshi Samaranayake, Professor Vajira H. W. Dissanayake

  101. Implementation of genomic medicine in Sri Lanka: Initial experience and challenges

    Article • Applied & Translational Genomics, June 2016, Elsevier

    Professor Vajira H. W. Dissanayake

  102. Unsung heroes: Genomic successes in the developing world

    Article • Applied & Translational Genomics, June 2016, Elsevier

    Professor Vajira H. W. Dissanayake

  103. A study of HLA-B∗15:02 in a Sri Lankan population: Implications for pharmacogenomic testing

    Article • Human Immunology, May 2016, Elsevier

    Professor Vajira H. W. Dissanayake

  104. Corrigendum

    Article • Nephrology, March 2016, Wiley

    Professor Vajira H. W. Dissanayake

  105. Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development

    Article • Ceylon Medical Journal, January 2016, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  106. A Study on Hereditary Thrombophilia and Stroke in a Cohort from Sri Lanka

    Article • Journal of Stroke and Cerebrovascular Diseases, January 2016, Elsevier

    Professor Vajira H. W. Dissanayake

  107. Applying the Resilient Health System Framework for Universal Health Coverage

    Article • January 2016, IOS Press

    Professor Vajira H. W. Dissanayake

  108. Genetic diversity of variants involved in drug response and metabolism in Sri Lankan populations

    Article • Pharmacogenetics and Genomics, January 2016, Wolters Kluwer Health

    Professor Vajira H. W. Dissanayake

  109. Phenotypic and Cytogenetic Characterization of Mesenchymal Stromal Cells inDe NovoMyelodysplastic Syndromes

    Article • Analytical Cellular Pathology, January 2016, Wiley

    Professor Vajira H. W. Dissanayake

  110. Sri Lanka’s national assessment on innovation and intellectual property for access to medical products

    Article • WHO South-East Asia Journal of Public Health, January 2016, Medknow

    Professor Vajira H. W. Dissanayake

  111. NovelAGXTgene mutation in a Sri Lankan family with primary Hyperoxaluria type 1

    Article • Nephrology, December 2015, Wiley

    Dr Nirmala Dushyanthi Sirisena, Professor Vajira H. W. Dissanayake

  112. 17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome

    Article • BMC Research Notes, September 2015, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  113. Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome

    Article • Nephrology, July 2015, Wiley

    Dr Nirmala Dushyanthi Sirisena, Professor Vajira H. W. Dissanayake

  114. Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report

    Article • Journal of Medical Case Reports, June 2015, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  115. Allogeneic bone marrow transplant in a child with thalassaemia

    Article • Ceylon Medical Journal, June 2015, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  116. Global implementation of genomic medicine: We are not alone

    Article • Science Translational Medicine, June 2015, American Association for the Advancement of Science

    Professor Vajira H. W. Dissanayake

  117. The obesity-related FTO gene variant associates with the risk of recurrent miscarriage

    Article • Acta Obstetricia Et Gynecologica Scandinavica, April 2015, Wiley

    Professor Vajira H. W. Dissanayake

  118. Polymorphisms in the inflammatory pathway genes and the risk of preeclampsia in Sinhalese women

    Article • The Journal of Maternal-Fetal & Neonatal Medicine, April 2015, Taylor & Francis

    Professor Vajira H. W. Dissanayake

  119. Microbiome of the placenta in pre-eclampsia supports the role of bacteria in the multifactorial cause of pre-eclampsia

    Article • Journal of Obstetrics and Gynaecology Research, December 2014, Wiley

    Professor Vajira H. W. Dissanayake

  120. Challenges in global genomics education

    Article • Applied & Translational Genomics, December 2014, Elsevier

    Professor Vajira H. W. Dissanayake

  121. Polymorphisms in the fibrinolytic pathway genes and the risk of recurrent spontaneous abortion

    Article • Reproductive BioMedicine Online, December 2014, Elsevier

    Professor Vajira H. W. Dissanayake

  122. Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

    Article • World Journal of Pediatrics, November 2014, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  123. A Survey of Scientist and Policy Makers' Attitudes Toward Research on Stored Human Biological Materials in Sri Lanka

    Article • Developing World Bioethics, October 2014, Wiley

    Dr Dulika S Sumathipala, Professor Vajira H. W. Dissanayake

  124. The Prevalence of the Prothrombin (F2) 20210G>A Mutation in a Cohort of Sri Lankan Patients with Thromboembolic Disorders

    Article • Indian Journal of Hematology and Blood Transfusion, September 2014, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  125. Hypoxia-inducible factor-1α gene polymorphisms in early and late onset preeclampsia in Sinhalese women

    Article • Placenta, July 2014, Elsevier

    Professor Vajira H. W. Dissanayake

  126. Polymorphism in the epidermal growth factor gene is associated with pre-eclampsia and low birthweight

    Article • Journal of Obstetrics and Gynaecology Research, April 2014, Wiley

    Professor Vajira H. W. Dissanayake

  127. Thalassaemic Osteopathy: a cross-sectional preliminary study from Sri Lanka

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2014, De Gruyter

    Professor Vajira H. W. Dissanayake

  128. A Child with a Novel de novo Mutation in the Aristaless Domain of the Aristaless-Related Homeobox <b><i>(ARX)</i></b> Gene Presenting with Ambiguous Genitalia and Psychomotor Delay

    Article • Sexual Development, January 2014, Karger Publishers

    Professor Vajira H. W. Dissanayake

  129. Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay

    Article • Gene, January 2014, Elsevier

    Professor Vajira H. W. Dissanayake

  130. Building trust in health information systems

    Article • Sri Lanka Journal of Bio-Medical Informatics, December 2013, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  131. Clinical and genetic features of Huntington disease in Sri Lanka

    Article • BMC Neurology, December 2013, Springer Science + Business Media

    Dr Dulika S Sumathipala, Professor Vajira H. W. Dissanayake

  132. Development and implementation of a web-based continuing professional development (CPD) programme on medical genetics

    Article • Journal of Telemedicine and Telecare, October 2013, SAGE Publications

    Professor Vajira H. W. Dissanayake

  133. Introduction of Web based Continuous Professional Development to Sri Lanka

    Article • Sri Lanka Journal of Bio-Medical Informatics, May 2013, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  134. Implementation of District Health Information Software 2 (DHIS2) in Sri Lanka

    Article • Sri Lanka Journal of Bio-Medical Informatics, May 2013, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  135. Autosomal dominant hereditary ataxia in Sri Lanka

    Article • BMC Neurology, May 2013, Springer Science + Business Media

    Dr Dulika S Sumathipala, Professor Vajira H. W. Dissanayake

  136. A Sri Lankan Child with 48,XXXX Syndrome

    Article • The Indian Journal of Pediatrics, March 2013, Springer Science + Business Media

    Professor Vajira H. W. Dissanayake

  137. eHealth in Public Health Services

    Article • Sri Lanka Journal of Bio-Medical Informatics, February 2013, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  138. Bioinformatics in Sri Lanka – Still in its infancy

    Article • Sri Lanka Journal of Bio-Medical Informatics, January 2013, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  139. Genetic variants in the cytochrome P450 2D6 gene in the Sri Lankan population

    Article • Indian Journal of Human Genetics, January 2013, CLOCKSS Archive

    Professor Vajira H. W. Dissanayake

  140. Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea

    Article • Journal of Obstetrics and Gynaecology Research, December 2012, Wiley

    Professor Vajira H. W. Dissanayake

  141. Vascular endothelial growth factor family gene polymorphisms in preeclampsia in Sinhalese women in Sri-Lanka

    Article • The Journal of Maternal-Fetal & Neonatal Medicine, November 2012, Taylor & Francis

    Professor Vajira H. W. Dissanayake

  142. An Infant Born to a Mother with Gestational Diabetes Presenting with 49,XXXXY Syndrome and Renal Agenesis-A Case Report

    Article • Journal of Clinical Research in Pediatric Endocrinology, October 2012, Journal of Clinical Research of Pediatric Endocrinology

    Dr Dulika S Sumathipala, Professor Vajira H. W. Dissanayake

  143. Candidate gene study of genetic thrombophilic polymorphisms in pre‐eclampsia and recurrent pregnancy loss in Sinhalese women

    Article • Journal of Obstetrics and Gynaecology Research, April 2012, Wiley

    Professor Vajira H. W. Dissanayake

  144. A Case Series of Five Sri Lankan Patients with Ovotesticular Disorder of Sex Development

    Article • Clinical Pediatric Endocrinology, January 2012, Japanese Society for Pediatric Endocrinology

    Professor Vajira H. W. Dissanayake

  145. A child with mosaicism for deletion (14)(q11.2q13)

    Article • Indian Journal of Human Genetics, January 2012, CLOCKSS Archive

    Professor Vajira H. W. Dissanayake

  146. The low frequency of Y chromosome microdeletions in subfertile males in a Sinhalese population of Sri Lanka

    Article • Indian Journal of Human Genetics, January 2012, CLOCKSS Archive

    Professor Vajira H. W. Dissanayake

  147. Shift in the transmission pattern of dengue serotypes and concurrent infection with more than one dengue virus serotype

    Article • Ceylon Medical Journal, December 2011, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  148. Haplotypes of heparin‐binding epidermal‐growth‐factor‐like growth factor gene are associated with pre‐eclampsia

    Article • Journal of Obstetrics and Gynaecology Research, December 2011, Wiley

    Professor Vajira H. W. Dissanayake

  149. In silico analysis of Single Nucleotide Polymorphisms (SNPs) in the Heparin-Binding EGF-like Growth Factor (HBEGF) gene and their allelic profiles in the Sri Lankan population: a comprehensive approach to prioritise SNPs for candidate gene studies

    Article • Sri Lanka Journal of Bio-Medical Informatics, November 2011, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  150. The Sri Lankan Personal Genome Project: an overview

    Article • Sri Lanka Journal of Bio-Medical Informatics, November 2011, Sri Lanka Journals Online (SLJOL)

    Vinod Scaria, Professor Vajira H. W. Dissanayake, Pubudu S Samarakoon

  151. Prenatal testing and pregnancy termination in Sri Lanka: views of medical students and doctors

    Article • Ceylon Medical Journal, August 2011, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  152. Y chromosome microdeletions are not associated with spontaneous recurrent pregnancy loss in a Sinhalese population in Sri Lanka

    Article • Human Reproduction, October 2010, Oxford University Press (OUP)

    Professor Vajira H. W. Dissanayake

  153. Editorial – Moving on: Towards an eHealth Master Plan for Sri Lanka

    Article • Sri Lanka Journal of Bio-Medical Informatics, April 2010, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  154. eHEALTH SRI LANKA 2010

    Article • Sri Lanka Journal of Bio-Medical Informatics, April 2010, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  155. Editorial Details and Sponsorship

    Article • Sri Lanka Journal of Bio-Medical Informatics, April 2010, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  156. Ethical review, remit and responsibility in biomedical research in South Asia

    Article • Indian Journal of Medical Ethics, April 2010, Forum for Medical Ethics Society

    Professor Vajira H. W. Dissanayake

  157. Candidate gene study of susceptibility to cutaneous leishmaniasis in Sri Lanka

    Article • Tropical Medicine & International Health, March 2010, Wiley

    Professor Vajira H. W. Dissanayake

  158. Developing Human Resources Capacity in Health and Medical Informatics in Sri Lanka

    Article • Sri Lanka Journal of Bio-Medical Informatics, January 2010, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  159. A Sri Lankan child with 49, XXXXY syndrome

    Article • Indian Journal of Human Genetics, January 2010, CLOCKSS Archive

    Professor Vajira H. W. Dissanayake

  160. Research ethics and ethical review committees in Sri Lanka: a 25 year journey

    Article • Ceylon Medical Journal, October 2009, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  161. Genetics of pre-eclampsia and the weight of babies at birth – clinical and genetic studies in Sri Lanka

    Article • Ceylon Medical Journal, October 2009, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  162. Prevalence of genetic thrombophilic polymorphisms in the Sri Lankan population — implications for association study design and clinical genetic testing services

    Article • Experimental and Molecular Pathology, October 2009, Elsevier

    Professor Vajira H. W. Dissanayake

  163. Prevalence of chronic kidney disease in two tertiary care hospitals: high proportion of cases with uncertain aetiology

    Article • Ceylon Medical Journal, April 2009, Sri Lanka Journals Online (SLJOL)

    Nimmi Athuraliya, Professor Vajira H. W. Dissanayake

  164. A study of three candidate genes for pre‐eclampsia in a Sinhalese population from Sri Lanka

    Article • Journal of Obstetrics and Gynaecology Research, March 2009, Wiley

    Professor Vajira H. W. Dissanayake

  165. Cytogenetic testing in paediatrics: Some aspects of the Sri Lankan scenario

    Article • Sri Lanka Journal of Child Health, September 2008, Sri Lanka Journals Online (SLJOL)

    Professor Vajira H. W. Dissanayake

  166. Clinical manifestations of cutaneous leishmaniasis in Sri Lanka — possible evidence for genetic susceptibility among the Sinhalese

    Article • Annals of Tropical Medicine and Parasitology, July 2008, Taylor & Francis

    Professor Vajira H. W. Dissanayake

  167. Polymorphism in the epidermal growth factor gene is associated with birthweight in Sinhalese and white Western Europeans

    Article • Molecular Human Reproduction, March 2007, Oxford University Press (OUP)

    Professor Vajira H. W. Dissanayake

  168. Morbidity and mortality associated with pre‐eclampsia at two tertiary care hospitals in Sri Lanka

    Article • Journal of Obstetrics and Gynaecology Research, January 2007, Wiley

    Professor Vajira H. W. Dissanayake

  169. Contemplating choice: attitudes towards intervening in human reproduction in Sri Lanka

    Article • New Genetics and Society, April 2005, Taylor & Francis

    Professor Vajira H. W. Dissanayake

  170. The urine protein heat coagulation test—a useful screening test for proteinuria in pregnancy in developing countries: a method validation study

    Article • BJOG An International Journal of Obstetrics & Gynaecology, April 2004, Wiley

    Professor Vajira H. W. Dissanayake

  171. Establishing a twin register in Sri Lanka

    Article • Twin Research, December 2000, Cambridge University Press

    Professor Sisira Siribaddana, Professor Vajira H. W. Dissanayake