Lauren S Akesson

Publication Activity (10 Years)

Years Active: 2020-2022
Publications (10 Years): 3

Top Topics

Candida Albicans

Dna Methylation

Loop Mediated Isothermal Amplification

Top Venues

Journal of paediatrics and child health

This page only lists publications with an associated author ORCID identifier.

Publications

Lauren S Akesson, Rocio Rius, Natasha J Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael O Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon H Hakonarson, Alison G Compton, David R Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Chrisodoulou
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies. JIMD reports 63 (3) (2022)
Lauren S Akesson, Adam M Bournazos, Andrew Fennell, Emma I Krzesinski, Kenneth Tan, Amanda Springer, Katherine Rose, Ilias Goranitis, David Francis, Crystle Lee, Fathimath Faiz, Mark R Davis, John Christodoulou, Sebastian Lunke, Zornitza Stark, Matthew F Hunter, Sandra T Cooper
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Human mutation 41 (11) (2020)
Lauren S Akesson, David Francis, Michelle G de Silva, Theresa Cole, Peter Simm, Mark Oliver, Susan M White
Microarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion. Journal of paediatrics and child health 57 (7) (2020)