Affiliate Member
Sajeewani Pathirana
Membership since:
2025
Field of activity:
Degrees:
2015
Undergraduate Biological Systems and Organisms
Currently, I'm reading for the master of science in Bioinformatics degree.
Publications resulting from Research
1) Sirisena, N. D., Samaranayake, U. M. J. E., Neto, O. L. A., Foley, A. R., Pathirana, B. A. P. S., Neththikumara, N., Paththinige, C. S., Rathnayake, P., Donkervoort, S., Bönnemann, C. G., & Dissanayake, V. H. W. (2021). A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: A case report. BMC Neurology, 21(1), 105. https://doi.org/10.1186/s12883-021-02134-7.
2) Hettiarachchi, D., Panchal, H., Pathirana, BAPS., Rathnayaka, P. D., Padeniya, A., Lai, P. S., & Dissanayake, V. H. W. (2020). Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia. Case Reports in Genetics, 2020, 6630300. https://doi.org/10.1155/2020/6630300
3) Pathirana BAPS, Hettiarachchi D, Neththikumara N, Ratnayake P, Dissanayake V. A novel variant in SCN1A gene associated with Dravet syndrome. Seizure - European Journal of Epilepsy. 2019;69:213-214. doi:10.1016/j.seizure.2019.05.003
4) Hettiarachchi D, Pathirana BAPS, Kumarasiri PJ, Dissanayake VHW. Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes. Cotter PD, ed. Case Reports in Genetics. 2019;2019:2687595. doi:10.1155/2019/2687595
5) Hettiaracchchi D, Neththikumara N, Pathirana BAPS, Padeniya A, Dissanayake VHW. A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter. Case Rep Pediatr. 2018;2018:2731039-2731039. doi:10.1155/2018/2731039
6) Hettiarachchi D, Neththikumara NF, Pathirana BAPS, Dissanayake VHW. Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome. J Autism Dev Disord. 2020;50(1):118-126. doi:10.1007/s10803-019-04230-7
7) Hettiarachchi D, Nethikumara N, Pathirana BAPS, Weththasigha K, Dissanayake WDN, Dissanayake VHW. A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B). Clinical Case Reports. 2018;6(6):1051-1054. doi:10.1002/ccr3.1521
8) Hettiaracchchi D, Wetthasinghe T K, Neththikumara N F, Pathirana BAPS, DissanayakeVHW. A Novel Mutation in the MFN2 Gene Associated with Hereditary Sensory and Motor Neuropathy with Proximal Predominance (HMSN-P)- A Case Report. doi:10.23937/2378-3648/1410039
2) Hettiarachchi, D., Panchal, H., Pathirana, BAPS., Rathnayaka, P. D., Padeniya, A., Lai, P. S., & Dissanayake, V. H. W. (2020). Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia. Case Reports in Genetics, 2020, 6630300. https://doi.org/10.1155/2020/6630300
3) Pathirana BAPS, Hettiarachchi D, Neththikumara N, Ratnayake P, Dissanayake V. A novel variant in SCN1A gene associated with Dravet syndrome. Seizure - European Journal of Epilepsy. 2019;69:213-214. doi:10.1016/j.seizure.2019.05.003
4) Hettiarachchi D, Pathirana BAPS, Kumarasiri PJ, Dissanayake VHW. Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes. Cotter PD, ed. Case Reports in Genetics. 2019;2019:2687595. doi:10.1155/2019/2687595
5) Hettiaracchchi D, Neththikumara N, Pathirana BAPS, Padeniya A, Dissanayake VHW. A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter. Case Rep Pediatr. 2018;2018:2731039-2731039. doi:10.1155/2018/2731039
6) Hettiarachchi D, Neththikumara NF, Pathirana BAPS, Dissanayake VHW. Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome. J Autism Dev Disord. 2020;50(1):118-126. doi:10.1007/s10803-019-04230-7
7) Hettiarachchi D, Nethikumara N, Pathirana BAPS, Weththasigha K, Dissanayake WDN, Dissanayake VHW. A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B). Clinical Case Reports. 2018;6(6):1051-1054. doi:10.1002/ccr3.1521
8) Hettiaracchchi D, Wetthasinghe T K, Neththikumara N F, Pathirana BAPS, DissanayakeVHW. A Novel Mutation in the MFN2 Gene Associated with Hereditary Sensory and Motor Neuropathy with Proximal Predominance (HMSN-P)- A Case Report. doi:10.23937/2378-3648/1410039
Colombo Medical Congress 2020
2025
University of Colombo, Sri LankaSri Lanka College of Oncologists, Annual Academic Sessions-2019
2025
Taj Samudra Hotel, Colombo, Sri LankaSri Lanka College of Oncologists, Annual Academic Sessions-2019
2025
Taj Samudra Hotel, Colombo, Sri LankaThree –day workshop in Bioinformatics, Next Generation and Whole Genome sequencing conducted by Dr. Prashanth N. Suravajhala from Birla Institute of Scientific Research, Jaipur, India, June,2018
2025
University of Sri Jayewardenepura & Sri Lanka Association for the Advancement of Science (SLAAS)Workshop on MLPA. MRC-HOLLAND, Netherlands
2025
Human Genetics Unit, Faculty of Medicine, University of ColomboWorkshop on Creativity, Innovation and Intellectual Property, Technology Transfer Office of the Research Promotion and Facilitation Center (RPFC)
2025
Faculty of Medicine, University of ColomboSeminar on Epigenetics, International Council for Science (ICSU), Regional Office for Asia and Pacific (ROAP)
2025
Human Genetics Unit, Faculty of Medicine, University of ColomboRPFC workshop for on Study designs, experimental studies and statistics
2025
University of ColomboBiomedical Engineering workshop
2025
KDU, Sri LankaElsevier author workshop and eBook awareness
2025
University of ColomboColombo Medical Congress
2025
University of Colombo, Sri LankaSLAAS Biotechnology Symposia Series
2025
Sri Lanka Association for the Advancement of ScienceSri Lanka Oncologists, Annual Academic Sessions
2025
Taj Samudra Hotel, Sri Lanka3rd Common Wealth Digital Health Conference & Digital Health
2025
Cinnamon Grand, Colombo, Sri LankaAnnual Research Symposium of University of Colombo
2025
University of Colombo, Sri Lanka3rd International Conference on natural products Genomics and drug
2025
Hotel Galadari, Colombo