Sumudu Amarasekera

All papers authored by Sumudu Amarasekera

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2023 Shabnam Bakhshalizadeh

, Daniella H. H. Hock, Nicole A. A. Siddall, Brianna L. L. Kline, Hock Dh, Rajini Sreenivasan, Katrina M. M. Bell, Siddall Na, Franca Casagranda, Sadishkumar Kamalanathan, Kline Bl, Jayaprakash Sahoo, Niya Narayanan, Bell Km, Alison G. G. Compton and 16 other authors

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

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Elsebet Østergaard, Sumudu S. C. Amarasekera

, Amarasekera Ssc, Daniella H. Hock, Hock Dh, Nicole J. Lake, Lake Nj, Sarah E. Calvo, Sabine W. Grønborg, Calvo Se, Emma I. Krzesinski, David J. Amor, Grønborg Sw, Michael Collingwood Fahey, Krzesinski Ei and 15 other authors

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

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This paper is made freely available by the publisher.

2022 Lauren S. Akesson

, Rocio Rius

, Natasha J. Brown

, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon

, Charmaine Chai, Esmeralda Bordador, Yiran Guo

, Hakon Hakonarson

, Alison G. Compton

, David R. Thorburn

, Sumudu Amarasekera

, Justine Marum, Alisha Monaco and 5 other authors

Distinct diagnostic trajectories in NBAS ‐associated acute liver failure highlights the need for timely functional studies

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Daniella H. Hock, Alison G. Compton, Sumudu S. C. Amarasekera

, Ann E. Frazier, Guy Helman, Nicole J. Lake, Liana N. Semcesen, Zornitza Stark, Monkol Lek, Cas Simons, John Christodoulou, David R. Thorburn, David A. Stroud

Mainstreaming proteomics into rare disease diagnostics

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2021 Ann E. Frazier

, Alison G. Compton

, Yoshihito Kishita

, Daniella H. Hock

, AnneMarie E. Welch, Sumudu S. C. Amarasekera

, Rocio Rius

, Luke E. Formosa, Atsuko Imai-Okazaki, David Francis, Min Wang, Nicole J. Lake, Simone Tregoning, Jafar S. Jabbari

, Alexis Lucattini and 32 other authors

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2020 Ann E. Frazier, Alison G. Compton, Y. Kishita, Daniella H. Hock, A. E. Welch, Sumudu S. C. Amarasekera

, R. Rius, L. E. Formosa, A. Imai-Okazaki, D. Francis, M. Wang, N. J. Lake, S. Tregoning, J. S. Jabbari, A. Lucattini and 28 other authors

Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency

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2018 S. A. E. Abeyratne, Abeyratne Sae, Sumudu S. C. Amarasekera

, Amarasekera Ssc, L. T. Ranaweera, Ranaweera Lt, T. B. Salpadoru, S. M. N. K. Thilakarathne, Salpadoru Tb, N. J. Knowles, J. Wadsworth, Thilakarathne Smnk, H. A. Wijithasiri, S. Puvanendiran, Knowles Nj and 5 other authors

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

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S. A. E. Abeyratne, Sumudu S. C. Amarasekera

, L. T. Ranaweera, T. B. Salpadoru, S. M. N. K. Thilakarathne, N. J. Knowles, J. Wadsworth, S. Puvanendiran, H. Kothalawala, B. K. Jayathilake, H. A. Wijithasiri, M. M. P. S. K. Chandrasena, S. D. S. S. Sooriyapathirana

The phylogenetic analysis of VP1 genomic region in foot-and-mouth disease virus serotype O isolates in Sri Lanka reveals the existence of 'Sr1-97', a newly named endemic lineage (vol 13, e0194077, 2018)

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All papers authored by Sumudu Amarasekera