Intronic variants in inborn errors of metabolism: Beyond the exome
Hertzog, Ashley, Selvanathan, Arthavan, Farnsworth, Elizabeth, Tchan, Michel, Adams, Louisa, Lewis, Katherine, Tolun, Adviye Ayper, Bennetts, Bruce, Ho, Gladys, Bhattacharya, Kaustuv
Published in Frontiers in genetics (06.12.2022)
Published in Frontiers in genetics (06.12.2022)
Get full text
Journal Article
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales
Adams, Louisa, Selvanathan, Arthavan, Batten, Kiera J, van Doorn, Nancy, Thompson, Susan, Mitchell, Ashleigh, Sampaio, Hugo, Dalkeith, Troy, Russell, Jacqui, Ellaway, Carolyn J, Farrar, Michelle, Broderick, Carolyn, Bhattacharya, Kaustuv
Published in JIMD reports (01.09.2023)
Published in JIMD reports (01.09.2023)
Get full text
Journal Article
STANDARD BIOMARKERS DO NOT CORRELATE WITH DISEASE PROGRESSION IN CHILDHOOD-ONSET COBALAMIN C DISEASE
Selvanathan, Arthavan, Hertzog, Ashley, Ellaway, Carolyn, Lewis, Katherine, Lichkus, Kate, Adams, Louisa, Bhattacharya, Kaustuv, Tolun, Adviye
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
Get full text
Journal Article
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
Riley, Lisa G., Cowley, Mark J., Gayevskiy, Velimir, Minoche, Andre E., Puttick, Clare, Thorburn, David R., Rius, Rocio, Compton, Alison G., Menezes, Minal J., Bhattacharya, Kaustuv, Coman, David, Ellaway, Carolyn, Alexander, Ian E., Adams, Louisa, Kava, Maina, Robinson, Jacqui, Sue, Carolyn M., Balasubramaniam, Shanti, Christodoulou, John
Published in Genetics in medicine (01.07.2020)
Published in Genetics in medicine (01.07.2020)
Get full text
Journal Article
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain
Righetti, Sarah, Allcock, Richard J.N., Yaplito-Lee, Joy, Adams, Louisa, Ellaway, Carolyn, Jones, Kristi J., Selvanathan, Arthavan, Fletcher, Janice, Pitt, James, van Kuilenburg, André B.P., Delatycki, Martin B., Laing, Nigel G., Kirk, Edwin P.
Published in Molecular genetics and metabolism (01.09.2022)
Published in Molecular genetics and metabolism (01.09.2022)
Get full text
Journal Article
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child
Rius, Rocio, Riley, Lisa G., Guo, Yiran, Menezes, Minal, Compton, Alison G., Van Bergen, Nicole J., Gayevskiy, Velimir, Cowley, Mark J., Cummings, Beryl B., Adams, Louisa, Ellaway, Carolyn, Thorburn, David R., Hakonarson, Hakon, Christodoulou, John
Published in Molecular genetics and metabolism (01.01.2019)
Published in Molecular genetics and metabolism (01.01.2019)
Get full text
Journal Article
Celebrating 20 years of the UK Dermatology Clinical Trials Network. Part 1: Developing and delivering high‐quality independent clinical trials
Williams, Hywel C., McPhee, Margaret J., Layfield, Carron P., Jones, Stephen, Layfield, Carron, Matin, Rubeta, Levell, Nick, Cowdell, Fiona, Burton, Tim, Adams, Louisa May, Frankel, Jez, Thomas, Kim, Perera, Gayathri, Sommerlad, Mary, Charman, Carolyn, Worboys, Sarah, Young, Helen, Belmo, Sharon, Sach, Tracey, Bradshaw, Lucy, Abbott, Rachel, Macbeth, Abby, Shipley, Debbie, Makrygeorgou, Areti, McPherson, Tess, DeGiovanni, Claudia, Davies, Evelyn, Llewellyn, Rhiannon, Westmoreland, Melanie, Pathak, Anjali, Wainman, Hannah, MacNeil, Christina, Barlow, Richard, Brito, Marianne, Frewen, John, Lalonde, Anna, Sudhakaran, Simi, Earp, Eleanor, Steele, Lloyd, Hodder, Andy, Lowe, Alison, Layton, Alison, Lloyd‐Lavery, Antonia, Walton, Shernaz, Sears, Alison, Burden‐Teh, Esther, Durack, Alana, Wernham, Aaron, Thomson, Jason, Marrouche, Nadine, Ahmed, Alia, Simpson, Rosalind
Published in Clinical and experimental dermatology (01.06.2022)
Published in Clinical and experimental dermatology (01.06.2022)
Get full text
Journal Article
In a child presenting with features consistent with a diagnosis of juvenile idiopathic arthritis, what clinical features or laboratory findings (at presentation) predict a diagnosis of acute lymphoblastic leukaemia?
McKay, Damien, Adams, Louisa, Ostring, Genevieve, Singh-Grewal, Davinder
Published in Journal of paediatrics and child health (01.07.2010)
Published in Journal of paediatrics and child health (01.07.2010)
Get full text
Journal Article