1. 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) ↗
2. Clinical utility of whole-genome sequencing in precision oncology. (September 2022) Authors: Rosenquist, Richard; Cuppen, Edwin; Buettner, Reinhard; Caldas, Carlos; Dreau, Helene; Elemento, Olivier; Frederix, Geert; Grimmond, Sean; Haferlach, Torsten; Jobanputra, Vaidehi; Meggendorfer, Manja; Mullighan, Charles G.; Wordsworth, Sarah; Schuh, Anna Journal: Seminars in cancer biology Issue: Volume 84(2022) Page Start: 32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias. (19th July 2016) Authors: Roy, Noémi B. A.; Wilson, Edward A.; Henderson, Shirley; Wray, Katherine; Babbs, Christian; Okoli, Steven; Atoyebi, Wale; Mixon, Avery; Cahill, Mary R.; Carey, Peter; Cullis, Jonathan; Curtin, Julie; Dreau, Helene; Ferguson, David J. P.; Gibson, Brenda; Hall, Georgina; Mason, Joanne; Morgan, Mary... Journal: British journal of haematology Issue: Volume 175:Number 2(2016) Page Start: 318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Sequence analysis of exon 1 of the ferritin light chain (FTL) gene can reveal the rare disorder 'hereditary hyperferritinaemia without cataracts'. (23rd May 2018) Authors: Bhuva, Meha; Sen, Sambit; Elsey, Terence; Atoyebi, Wale; Dreau, Helene; Bradbury, Charlotte; Johnston, Rosalynd; Bignell, Patricia; Griffiths, William Journal: British journal of haematology Issue: Volume 184:Number 6(2019) Page Start: 1037 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study from the 100, 000 Genomes Project. Issue 4 (26th August 2021) Authors: Lomas, Oliver C.; Gooding, Sarah; Cabes, Maite; Dreau, Helene; Wilson, Edward; Polzella, Paolo; Ramasamy, Karthik; Hamblin, Angela D. Journal: EJHaem Issue: Volume 2:Issue 4(2021) Page Start: 809 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗