1. A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS. Issue 1 (19th March 2014) Authors: Rosmarin, Dan; Palles, Claire; Pagnamenta, Alistair; Kaur, Kulvinder; Pita, Guillermo; Martin, Miguel; Domingo, Enric; Jones, Angela; Howarth, Kimberley; Freeman-Mills, Luke; Johnstone, Elaine; Wang, Haitao; Love, Sharon; Scudder, Claire; Julier, Patrick; Fernández-Rozadilla, Ceres; Ruiz-Ponte, C... Journal: Gut Issue: Volume 64:Issue 1(2015) Page Start: 111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. (October 2018) Authors: Schwarze, Katharina; Buchanan, James; Taylor, Jenny; Wordsworth, Sarah Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1122 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. (October 2018) Authors: Johnston, Jennifer; van der Smagt, Jasper; Rosenfeld, Jill; Pagnamenta, Alistair; Alswaid, Abdulrahman; Baker, Eva; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David; van Gassen, Koen; Gulsuner, Suleyman; Harr, Margaret; Jain, Mahim; Kue... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Circulating tumour DNA in patients with intrahepatic cholangiocarcinoma – Detection of an IDH1 mutation and elevated 2-hydroxyglutarate. Issue 11 (November 2017) Authors: Winter, Helen; Kaisaki, Pam; Knight, S.; Harvey, Joe; Sharma, Ricky; McCullagh, James; Taylor, Jenny Journal: European journal of surgical oncology Issue: Volume 43:Issue 11(2017:Nov.) Page Start: 2228 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Circulating tumour DNA in patients with intrahepatic cholangiocarcinoma–detection of an IDH1 mutation and elevated 2-hydroxyglutarate. (March 2018) Authors: Winter, Helen; Kaisaki, Pam; Knight, S.; Harvey, Joe; Sharma, Ricky; McCullagh, James; Taylor, Jenny Journal: European journal of surgical oncology Issue: Volume 44:Supplement 1(2018) Page Start: S31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100, 000 Genomes Project. (October 2018) Authors: Robbe, Pauline; Popitsch, Niko; Knight, Samantha; Antoniou, Pavlos; Becq, Jennifer; He, Miao; Kanapin, Alexander; Samsonova, Anastasia; Vavoulis, Dimitrios; Ross, Mark; Kingsbury, Zoya; Cabes, Maite; Ramos, Sara; Page, Suzanne; Dreau, Helene; Ridout, Kate; Jones, Louise; Tuff-Lacey, Alice; Hender... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1196 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. From Genotype to Phenotype: Clinical Assessment and Participant Perspective of a Secondary Genomic Finding Associated with Long QT Syndrome. (October 2018) Authors: Mackley, Michael; McGuire, Karen; Taylor, Jenny; Watkins, Hugh; Ormondroyd, Elizabeth Journal: Circulation Issue: Volume 11:Number 10(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis. Issue 5 (17th November 2022) Authors: Shoemark, Amelia; Griffin, Helen; Wheway, Gabrielle; Hogg, Claire; Lucas, Jane S.; Camps, Carme; Taylor, Jenny; Carroll, Mary; Loebinger, Michael R.; Chalmers, James D.; Morris-Rosendahl, Deborah; Mitchison, Hannah M.; De Soyza, Anthony Journal: European respiratory journal Issue: Volume 60:Issue 5(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co‐express gamma and beta globins. (16th May 2014) Authors: Yang, Cheng‐Tao; French, Anna; Goh, Pollyanna Agnes; Pagnamenta, Alistair; Mettananda, Sachith; Taylor, Jenny; Knight, Sam; Nathwani, Amit; Roberts, David J.; Watt, Suzanne M.; Carpenter, Lee Journal: British journal of haematology Issue: Volume 166:Number 3(2014:Aug.) Page Start: 435 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Rethinking mental health provision in the secure estate for children and young people: a framework for integrated care (SECURE STAIRS). Issue 4 (11th October 2018) Authors: Taylor, Jenny; Shostak, Lisa; Rogers, Andrew; Mitchell, Paul Journal: Safer communities Issue: Volume 17:Issue 4(2018) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗