Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants
Wong, X.F. Colin C., Denil, Simon L.I.J., Foo, Jia Nee, Chen, Huijia, Tay, Angeline Su Ling, Haines, Rebecca L., Tang, Mark B.Y., McLean, W.H. Irwin, Sandilands, Aileen, Smith, Frances J.D., Lane, E. Birgitte, Liu, Jianjun, Common, John E.A.
Published in Journal of allergy and clinical immunology (01.02.2018)
Published in Journal of allergy and clinical immunology (01.02.2018)
Get full text
Journal Article
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis
Kitzmüller, Claudia, Haines, Rebecca L., Codlin, Sandra, Cutler, Daniel F., Mole, Sara E.
Published in Human molecular genetics (15.01.2008)
Published in Human molecular genetics (15.01.2008)
Get full text
Journal Article
Filaggrin Null Mutations Are Not a Protective Factor for Acne Vulgaris
Common, John E.A., Brown, Sara J., Haines, Rebecca L., Goh, Christabelle S.M., Chen, Huijia, Balakrishnan, Anita, Munro, Colin S., Tan, Audrey W.H., Tan, H.H., Tang, Mark B.Y., Lane, E. Birgitte
Published in Journal of investigative dermatology (01.06.2011)
Published in Journal of investigative dermatology (01.06.2011)
Get full text
Journal Article
Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease
Pears, Michael R, Codlin, Sandra, Haines, Rebecca L, White, Ian J, Mortishire-Smith, Russell J, Mole, Sara E, Griffin, Julian L
Published in Molecular bioSystems (01.01.2010)
Published in Molecular bioSystems (01.01.2010)
Get full text
Journal Article
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
Ragoussis, Vassilis, Pagnamenta, Alistair T, Haines, Rebecca L, Giacopuzzi, Edoardo, McClatchey, Martin A, Sampson, Julian R, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E, Taylor, Jenny C, Ambrose, J C, Arumugam, P, Baple, E L, Bleda, M, Boardman-Pretty, F, Boissiere, J M, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Craig, C E H, Daugherty, L C, de Burca, A, Devereau, A, Elgar, G, Foulger, R E, Fowler, T, Furió-Tarí, P, Hackett, J M, Halai, D, Hamblin, A, Henderson, S, Holman, J E, Hubbard, T J P, Ibáñez, K, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, Mason, J, McDonagh, E M, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, Odhams, C A, Patch, C, Pereira, M B, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smedley, D, Smith, K R, Smith, S C, Sosinsky, A, Spooner, W, Stevens, H E, Stuckey, A, Sultana, R, Thomas, E R A, Thompson, S R, Tregidgo, C, Tucci, A, Walsh, E, Watters, S A, Welland, M J, Williams, E, Witkowska, K, Wood, S M, Zarowiecki, M
Published in Journal of medical genetics (01.04.2022)
Published in Journal of medical genetics (01.04.2022)
Get full text
Journal Article
Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants
X F Colin C Wong, Simon L I J Denil, Jia Nee Foo, Chen, Huijia, Tay, Angeline S L, Haines, Rebecca L, Tang, Mark B Y, Irwin Mclean, W H, Lane, E Birgitte, Liu, Jianjun, Common, John E
Published in bioRxiv (26.01.2017)
Published in bioRxiv (26.01.2017)
Get full text
Paper