Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ... Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017 | 277 | 2017 |
Identification of copy number variants from exome sequence data PS Samarakoon, HS Sorte, BE Kristiansen, T Skodje, Y Sheng, ... BMC genomics 15, 1-11, 2014 | 80 | 2014 |
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction HS Sorte, LT Osnes, B Fevang, P Aukrust, HC Erichsen, PH Backe, ... Molecular Genetics & Genomic Medicine, n/a--n/a, 2016 | 66 | 2016 |
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data PS Samarakoon, HS Sorte, A Stray-Pedersen, OK Rødningen, T Rognes, ... BMC genomics 17, 1-11, 2016 | 27 | 2016 |
The Sri Lankan personal genome project VHW Dissanayake, PS Samarakoon, V Scaria, A Patowary, S Sivasubbu, ... The Sri Lankan Personal Genome Project 2 (1), 4-8, 2011 | 9 | 2011 |
Personalized HLA typing leads to the discovery of novel HLA alleles and tumor-specific HLA variants I Anzar, A Sverchkova, PS Samarakoon, EB Ellingsen, G Gaudernack, ... HLA, 2022 | 7 | 2022 |
Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios I Holm, M Spildrejorde, B Stadheim, KL Eiklid, PS Samarakoon Gene 624, 50-55, 2017 | 6 | 2017 |
The Sri Lankan genome variation database PS Samarakoon, RW Jayasekara, VHW Dissanayake Sri Lanka Journal of Bio-Medical Informatics 2 (1), 2011 | 5 | 2011 |
The ELIXIR human copy number variations community: building bioinformatics infrastructure for research D Salgado, IM Armean, M Baudis, S Beltran, S Capella-Gutierrez, ... F1000Research 9, 2020 | 4 | 2020 |
Epigenomics and Genome Wide Methylation Profiling PS Samarakoon Sri Lanka Journal of Bio-Medical Informatics 1 (1), 2010 | 4 | 2010 |
The interplay between neoantigens and immune cells in sarcomas treated with checkpoint inhibition I Anzar, B Malone, P Samarakoon, I Vardaxis, B Simovski, H Fontenelle, ... Frontiers in immunology 14, 1226445, 2023 | | 2023 |
Computational prediction of diseasecausing CNVs from exome sequence data PS Samarakoon | | 2017 |