STIM1 R304W causes muscle degeneration and impaired platelet activation in mice TH Gamage, G Gunnes, RH Lee, WE Louch, A Holmgren, JD Bruton, ... Cell Calcium 76, 87-100, 2018 | 26 | 2018 |
A de novo 2.3Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl V Belengeanu, TH Gamage, S Farcas, M Stoian, N Andreescu, ... Gene 539 (1), 168-172, 2014 | 23 | 2014 |
Dengue surveillance in Colombo, Sri Lanka: baseline seroprevalence among children HA Tissera, AD De Silva, MRN Abeysinghe, AM De Silva, ... Procedia in Vaccinology 2 (1), 109-112, 2010 | 21 | 2010 |
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone TH Gamage, E Lengle, G Gunnes, H Pullisaar, A Holmgren, JE Reseland, ... Cell calcium 85, 102110, 2020 | 12 | 2020 |
Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay CRJ Pedurupillay, D Misceo, TH Gamage, VHW Dissanayake, E Frengen Gene 533 (1), 403-410, 2014 | 10 | 2014 |
A balanced de novo inv (7)(p14. 3q22. 3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy TH Gamage, D Misceo, M Fannemel, E Frengen European Journal of Medical Genetics 56 (7), 361-364, 2013 | 6 | 2013 |
An infant born to a mother with gestational diabetes presenting with 49, XXXXY syndrome and renal agenesis-a case report D Sumathipala, T Gamage, B Wijesiriwardena, RW Jayasekara, ... Journal of Clinical Research in Pediatric Endocrinology 4 (4), 223, 2012 | 6 | 2012 |
A child with mosaicism for deletion (14)(q11. 2q13) TH Gamage, IUH Godapitiya, S Nanayakkara, RW Jayasekara, ... Indian Journal of Human Genetics 18 (1), 130, 2012 | 5 | 2012 |
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1 DS Sumathipala, D Misceo, SM Larsen, T Barøy, TH Gamage, E Frengen, ... Clinical Dysmorphology 29 (2), 107-110, 2020 | 3 | 2020 |
A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome–causing R304W mutation TH Gamage, H Grabmayr, F Horvath, M Fahrner, D Misceo, WE Louch, ... Science Signaling 16 (771), eadd0509, 2023 | | 2023 |
A novel deletion in the CRAC protein STIM1 diminishes Stormorken syndrome pathology H Grabmayr, TH Gamage, D Misceo, M Fahrner, E Frengen, C Romanin EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS 50 (SUPPL 1), 44-44, 2021 | | 2021 |
Heterogeneity in man and mice with STIM1 gain of function mutations FASEB Science Research Conferences-Calcium and Cell Function 2016, 2016 | | 2016 |
Use of novel technology to study chromosomal abberations in patients Faculty of Medicine, University of Colombo, 2012 | | 2012 |