2020

Boardman, Felicity K., Clark, Corinna C. A., Jungkurth, Elsita and Young, Philip J. (2020) Social and cultural influences on genetic screening programme acceptability : a mixed methods study of the views of adults, carriers and family members living with thalassemia in the UK. Journal of Genetic Counseling, 29 (6). pp. 1026-1040. doi:10.1002/jgc4.1231 ISSN 1059-7700.

2019

Boardman, Felicity K., Hale, Rachel, Gohel, Raksha and Young, Philip J. (2019) Prevention of lives affected by haemophilia : a mixed methods study of the views of adults with haemophilia and their families towards genetic screening. Molecular Genetics and Genomic Medicine, 7 (5). e618. doi:10.1002/mgg3.618 ISSN 2324-9269.

Boardman, Felicity K., Hale, Rachel and Young, Philip J. (2019) Newborn screening for haemophilia : the views of families and adults living with haemophilia in the UK. Haemophilia, 25 (2). pp. 276-282. doi:10.1111/hae.13706 ISSN 1351-8216.

2018

Boardman, Felicity K., Young, Philip J. and Griffiths, Frances (2018) Impairment experiences, identity and attitudes towards genetic screening : the views of people with Spinal Muscular Atrophy. Journal of Genetic Counseling, 27 (1). pp. 69-84. doi:10.1007/s10897-017-0122-7 ISSN 1059-7700.

Boardman, Felicity K., Sadler, Chloe and Young, Philip J. (2018) Newborn genetic screening for spinal muscular atrophy in the UK : the views of the general population. Molecular Genetics and Genomic Medicine, 6 (1). pp. 99-108. doi:10.1002/mgg3.353 ISSN 2324-9269.

2017

Boardman, Felicity K., Young, Philip J. and Griffiths, Frances (2017) Newborn screening for spinal muscular atrophy : the views of affected families and adults. American Journal of Medical Genetics Part A, 173 (6). pp. 1546-1561. doi:10.1002/ajmg.a.38220 ISSN 1552-4825.

Boardman, Felicity K., Young, Philip J. and Griffiths, Frances (2017) Population screening for spinal muscular atrophy : a mixed methods study of the views of affected families. American Journal of Medical Genetics (Part A), 173 (2). pp. 421-434. doi:10.1002/ajmg.a.38031 ISSN 1552-4825.

2016

Page, Ashley M., Perry, David, Young, Philip J., Mitchell, Daniel A., Frenguelli, Bruno G. and Unwin, Patrick R. (2016) Fast nanoscale surface charge mapping with pulsed-potential scanning ion conductance microscopy. Analytical Chemistry, 88 (22). pp. 10854-10859. doi:10.1021/acs.analchem.6b03744 ISSN 0003-2700.

2014

(2014) Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy. Journal of Clinical Investigation, 124 (4). pp. 1821-1834. doi:10.1172/JCI71318 ISSN 0021-9738.

2011

Morse, Robert, Todd, Adrian G., Shaw, Debra J., McConville, Alison L., Robinson, Iain M. and Young, Philip J. (2011) Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies. NeuroMolecular Medicine, 13 (1). pp. 77-87. doi:10.1007/s12017-010-8139-1 ISSN 1535-1084.

2010

Todd, Adrian G., Morse, Robert, Shaw, Debra J., McGinley, Samuel, Stebbings, Howard and Young, Philip J. (2010) SMN, Gemin2 and Gemin3 associate with β-actin mRNA in the cytoplasm of neuronal cells in vitro. Journal of Molecular Biology, 401 (5). pp. 681-689. doi:10.1016/j.jmb.2010.06.058 ISSN 0022-2836.

Todd, Adrian G., Morse, Robert, Shaw, Debra J., Stebbings, Howard and Young, Philip J. (2010) Analysis of SMN-neurite granules : core Cajal body components are absent from SMN-cytoplasmic complexes. Biochemical and Biophysical Research Communications, 397 (3). pp. 479-485. doi:10.1016/j.bbrc.2010.05.139 ISSN 0006-291X.

2008

Lorson, Monique A., Dickson, Alexa M., Shaw, Debra J., Todd, Adrian G., Young, Elizabeth C., Morse, Robert, Wolstencroft, Catherine, Lorson, Christian L. and Young, Philip J. (2008) Identification and characterisation of a nuclear localisation signal in the SMN associated protein, Gemin4. Biochemical and Biophysical Research Communications, 375 (1). pp. 33-37. doi:10.1016/j.bbrc.2008.07.113 ISSN 0006-291X.