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Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG. Amarasekera SSC, et al. Hum Mol Genet. 2023 Jul 20;32(15):2441-2454. doi: 10.1093/hmg/ddad069. Hum Mol Genet. 2023. PMID: 37133451 Free PMC article.
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Frazier AE, et al. Among authors: amarasekera ssc. Med. 2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9. Med. 2021. PMID: 33575671 Free PMC article.
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.
Akesson LS, Rius R, Brown NJ, Rosenbaum J, Donoghue S, Stormon M, Chai C, Bordador E, Guo Y, Hakonarson H, Compton AG, Thorburn DR, Amarasekera S, Marum J, Monaco A, Lee C, Chong B, Lunke S, Stark Z, Christodoulou J. Akesson LS, et al. JIMD Rep. 2022 Mar 15;63(3):240-249. doi: 10.1002/jmd2.12280. eCollection 2022 May. JIMD Rep. 2022. PMID: 35433172 Free PMC article.
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, Casagranda F, Kamalanathan S, Sahoo J, Narayanan N, Naik D, Suryadevara V, Compton AG, Amarasekera SSC, Kapoor R, Jaillard S, Simpson A, Robevska G, van den Bergen J, Pachernegg S, Ayers KL, Thorburn DR, Stroud DA, Hime GR, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: amarasekera ssc. Hum Genet. 2023 Jul;142(7):879-907. doi: 10.1007/s00439-023-02563-z. Epub 2023 May 6. Hum Genet. 2023. PMID: 37148394 Free PMC article.
Correction: The phylogenetic analysis of VP1 genomic region in foot-and-mouth disease virus serotype O isolates in Sri Lanka reveals the existence of 'Srl-97', a newly named endemic lineage.
Abeyratne SAE, Amarasekera SSC, Ranaweera LT, Salpadoru TB, Thilakarathne SMNK, Knowles NJ, Wadsworth J, Puvanendiran S, Kothalawala H, Jayathilake BK, Wijithasiri HA, Chandrasena MMPSK, Sooriyapathirana SDSS. Abeyratne SAE, et al. Among authors: amarasekera ssc. PLoS One. 2018 Apr 23;13(4):e0196491. doi: 10.1371/journal.pone.0196491. eCollection 2018. PLoS One. 2018. PMID: 29684068 Free PMC article.
The phylogenetic analysis of VP1 genomic region in foot-and-mouth disease virus serotype O isolates in Sri Lanka reveals the existence of 'Srl-97', a newly named endemic lineage.
Abeyratne SAE, Amarasekera SSC, Ranaweera LT, Salpadoru TB, Thilakarathne SMNK, Knowles NJ, Wadsworth J, Puvanendiran S, Kothalawala H, Jayathilake BK, Wijithasiri HA, Chandrasena MMPSK, Sooriyapathirana SDSS. Abeyratne SAE, et al. Among authors: amarasekera ssc. PLoS One. 2018 Mar 23;13(3):e0194077. doi: 10.1371/journal.pone.0194077. eCollection 2018. PLoS One. 2018. PMID: 29570746 Free PMC article.