Pubudu Samarakoon

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 280 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A potential founder variant in<i>CARMIL2/RLTPR</i>in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

Hanne Sørmo Sorte, Liv Osnes, Børre Fevang et al. · Molecular Genetics & Genomic Medicine · 2016 · 67 citations · Full text

Life Sciences, Dermatology, Genetics +15

Identification of copy number variants from exome sequence data

Pubudu Samarakoon, Hanne Sørmo Sorte, Bjørn E. Kristiansen et al. · BMC Genomics · 2014 · 64 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data

Pubudu Samarakoon, Hanne Sørmo Sorte, Asbjørg Stray‐Pedersen et al. · BMC Genomics · 2016 · 29 citations · Full text

Life Sciences, Bioinformatics, Molecular Genetics +17

Personalized <scp>HLA</scp> typing leads to the discovery of novel <scp>HLA</scp> alleles and tumor‐specific <scp>HLA</scp> variants

Irantzu Anzar, Angelina Sverchkova, Pubudu Samarakoon et al. · HLA · 2022 · 16 citations · Full text

Life Sciences, Genetics, Immunology +17