Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Justine, Marum"'
Autor:
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, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou
Publikováno v:
JIMD Reports, Vol 63, Iss 3, Pp 240-249 (2022)
Abstract Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse populations that are underrepresented in large population databases. Functional characterization of VUS may assist i
Externí odkaz:
https://doaj.org/article/b096ed78eb604ff08a47d2a4cab9b501
Autor:
Joy Yaplito‐Lee, Gautham Pai, Winita Hardikar, Kai M. Hong, James Pitt, Justine Marum, David J. Amor
Publikováno v:
JIMD Reports, Vol 56, Iss 1, Pp 14-19 (2020)
Abstract Lathosterolosis is a rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by defects in the SC5D (sterol C5‐desaturase) gene which encodes for the 3‐beta‐hydroxysteroid‐delta‐5‐desaturase (also called stero
Externí odkaz:
https://doaj.org/article/042167ad149b4599b87c404710d117ac
Autor:
Natalie B. Tan, Rachel Stapleton, Zornitza Stark, Martin B. Delatycki, Alison Yeung, Matthew F. Hunter, David J. Amor, Natasha J. Brown, Chloe A. Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul Fernandez, Justine Marum, Dean Phelan, Lynn S. Pais, Susan M. White, Sebastian Lunke, Tiong Y. Tan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsolved cases referred for any indication. A secondary objective was to undertake a literature review of studies examining the
Externí odkaz:
https://doaj.org/article/45ad88bd061046b6a6ae906f5cca5936
Autor:
Leisa Rebecca Watson, Charlotte A. Slade, Samar Ojaimi, Sara Barnes, Pasquale Fedele, Prudence Smith, Justine Marum, Sebastian Lunke, Zornitza Stark, Matthew F. Hunter, Vanessa L. Bryant, Michael Sze Yuan Low
Publikováno v:
Allergy, Asthma & Clinical Immunology, Vol 14, Iss 1, Pp 1-5 (2018)
Abstract Background Daclizumab is a humanized monoclonal antibody that blocks CD25, the high affinity alpha subunit of the interleukin-2 receptor. Daclizumab therapy targets T regulatory cell and activated effector T cell proliferation to suppress au
Externí odkaz:
https://doaj.org/article/a9a5213b08cb415fa5b05e82cef8b2f1
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice
Autor:
Ingrid E, Scheffer, Caitlin A, Bennett, Deepak, Gill, Michelle G, de Silva, Kirsten, Boggs, Justine, Marum, Naomi, Baker, Elizabeth E, Palmer, Susan M, White
Publikováno v:
Developmental Medicine & Child Neurology. 65:50-57
To assess the clinical utility of exome sequencing for patients with developmental and epileptic encephalopathies (DEEs).Over 2 years, patients with DEEs were recruited for singleton exome sequencing. Parental segregation was performed where indicate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::344000e3dbba6376c3bbdb691036c5a7
https://doi.org/10.1111/dmcn.15308
https://doi.org/10.1111/dmcn.15308
Autor:
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, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou
Publikováno v:
JIMD reports. 63(3)
Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse populations that are underrepresented in large population databases. Functional characterization of VUS may assist in variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed72a773fdac3b915276550bda31194b
https://pubmed.ncbi.nlm.nih.gov/35433172
https://pubmed.ncbi.nlm.nih.gov/35433172
Autor:
Joy Lee, Sharmila Kiss, David J. Amor, Natasha J. Brown, Winita Hardikar, Kai M. Hong, Duncan MacGregor, Melanie Marty, Justine Marum, Gautham Pai, Jane Wallace, James Pitt
Publikováno v:
Pathology. 54:S14
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c080ad916c41ffb81f23740293f6aa0d
https://doi.org/10.1016/j.pathol.2021.12.052
https://doi.org/10.1016/j.pathol.2021.12.052