Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Sheridan, Eamonn, Ehresmann, Sophie, Rousseau, Justine, St-Denis, Anik, Chai, Guoliang, Ajeawung, Norbert F., Fairbrother, Laura, Reimschisel, Tyler, Bateman, Alexandra, Berry-Kravis, Elizabeth, Xia, Fan, Tardif, Jessica, Parry, David A., Logan, Clare V., Diggle, Christine, Bennett, Christopher P., Hattingh, Louise, Rosenfeld, Jill A., Perry, Michael Scott, Parker, Michael J., Le Deist, Françoise, Zaki, Maha S., Ignatius, Erika, Isohanni, Pirjo, Lönnqvist, Tuula, Carroll, Christopher J., Johnson, Colin A., Gleeson, Joseph G., Kinoshita, Taroh, Campeau, Philippe M.
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
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HBV vaccination and PMTCT as elimination tools in the presence of HIV: insights from a clinical cohort and dynamic model
McNaughton, Anna L, Lourenço, José, Hattingh, Louise, Adland, Emily, Daniels, Samantha, Van Zyl, Anriette, Akiror, Connie S, Wareing, Susan, Jeffery, Katie, Ansari, M Azim, Klenerman, Paul, Goulder, Philip J R, Gupta, Sunetra, Jooste, Pieter, Matthews, Philippa C
Published in BMC medicine (21.02.2019)
Published in BMC medicine (21.02.2019)
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PARV4 prevalence, phylogeny, immunology and coinfection with HIV, HBV and HCV in a multicentre African cohort
Sharp, Colin P, Gregory, William F, Hattingh, Louise, Malik, Amna, Adland, Emily, Daniels, Samantha, van Zyl, Anriette, Carlson, Jonathan M, Wareing, Susan, Ogwu, Anthony, Shapiro, Roger, Riddell, Lynn, Chen, Fabian, Ndung'u, Thumbi, Goulder, Philip J R, Klenerman, Paul, Simmonds, Peter, Jooste, Pieter, Matthews, Philippa C
Published in Wellcome open research (07.04.2017)
Published in Wellcome open research (07.04.2017)
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Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia
Abdollahi, Mohammad R., Morrison, Ewan, Sirey, Tamara, Molnar, Zoltan, Hayward, Bruce E., Carr, Ian M., Springell, Kelly, Woods, C. Geoff, Ahmed, Mushtaq, Hattingh, Louise, Corry, Peter, Pilz, Daniela T., Stoodley, Neil, Crow, Yanick, Taylor, Graham R., Bonthron, David T., Sheridan, Eamonn
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport
Hartill, Verity L, van de Hoek, Glenn, Patel, Mitali P, Little, Rosie, Watson, Christopher M, Berry, Ian R, Shoemark, Amelia, Abdelmottaleb, Dina, Parkes, Emma, Bacchelli, Chiara, Szymanska, Katarzyna, Knoers, Nine V, Scambler, Peter J, Ueffing, Marius, Boldt, Karsten, Yates, Robert, Winyard, Paul J, Adler, Beryl, Moya, Eduardo, Hattingh, Louise, Shenoy, Anil, Hogg, Claire, Sheridan, Eamonn, Roepman, Ronald, Norris, Dominic, Mitchison, Hannah M, Giles, Rachel H, Johnson, Colin A
Published in Human molecular genetics (01.02.2018)
Published in Human molecular genetics (01.02.2018)
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Screening, characterisation and prevention of Hepatitis B virus (HBV) co-infection in HIV-positive children in South Africa
Jooste, Pieter, van Zyl, Anriette, Adland, Emily, Daniels, Samantha, Hattingh, Louise, Brits, Alethea, Wareing, Susan, Goedhals, Dominique, Jeffery, Katie, Andersson, Monique, Goulder, Philip, Matthews, Philippa C
Published in Journal of clinical virology (01.12.2016)
Published in Journal of clinical virology (01.12.2016)
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Long lines and atypical anatomy
Pettinger, Katherine J, Wordie, Alexander I C, Vas, Chris J, Hattingh, Louise, Vasudevan, Chakrapani
Published in Archives of disease in childhood. Education and practice edition (01.12.2020)
Published in Archives of disease in childhood. Education and practice edition (01.12.2020)
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Mutation of the Variant [alpha]-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia
Abdollahi, Mohammad R, Morrison, Ewan, Sirey, Tamara, Molnar, Zoltan, Hayward, Bruce E, Carr, Ian M, Springell, Kelly, Woods, C Geoff, Ahmed, Mushtaq, Hattingh, Louise, Corry, Peter, Pilz, Daniela T, Stoodley, Neil, Crow, Yanick, Taylor, Graham R, Bonthron, David T, Sheridan, Eamonn
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Journal Article
Hepatitis B vaccination as an elimination tool assessed in a paediatric cohort and simulated in a model
Mcnaughton, Anna, Lourenco, Jose, Hattingh, Louise, Adland, Emily, Daniels, Samantha, Anriette Van Zyl, Akiror, Connie S, Wareing, Susan, Jeffery, Katie, Ansari, Azim, Klenerman, Paul, Goulder, Philip, Gupta, Sunetra, Jooste, Pieter, Matthews, Philippa C
Published in bioRxiv (11.05.2018)
Published in bioRxiv (11.05.2018)
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