Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Publications

Hypoxia-induced transcriptional stress is mediated by ROS-induced R-loops.

Ma TS. et al, (2023), Nucleic Acids Res

Induction of the alternative lengthening of telomeres pathway by trapping of proteins on DNA.

Rose AM. et al, (2023), Nucleic Acids Res

Ethnicity, child health and paediatric services.

Qureshi Z. et al, (2022), Arch Dis Child

Risk and Lag-time for Development of Lacrimal Gland Carcinoma Expleomorphic Adenoma: Observations and Conjectural Study.

Rose GE. et al, (2022), Ophthalmic Plast Reconstr Surg

A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression.

Badat M. et al, (2021), Blood, 137, 572 - 575

Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.

Scott C. et al, (2020), Haematologica, Online ahead of print

Anti-neutrophil cytoplasmic antibody-positive vasculitis secondary to therapeutic levamisole.

Rose AM., (2020), Rheumatology (Oxford)

Detection of mutations in SF3B1, EIF1AX and GNAQ in primary orbital melanoma by candidate gene analysis.

Rose AM. et al, (2018), BMC Cancer, 18

Cancer and the junkyard chromosome: how repeat DNA sequence on chromosome 19 influences risk of malignant disease.

Rose AM., (2018), Oncotarget, 9, 31942 - 31944

Hb Penang [β78(EF2)Leu→Pro, HBB: c.236T>C]: a Novel β-Globin Variant.

Hsu CH-W. et al, (2018), Hemoglobin, 42, 199 - 202

Multiple primary malignancies and prolonged survival in a patient with widespread metastatic cutaneous melanoma.

Rose AM. et al, (2018), Melanoma Res, 28, 163 - 166

Gene of the month: PRPF31.

Rose AM. et al, (2017), Journal of clinical pathology, 70, 729 - 732

Presentation, Treatment, and Prognosis of Secondary Melanoma within the Orbit.

Rose AM. et al, (2017), Front Oncol, 7

Primary Orbital Melanoma: Presentation, Treatment, and Long-term Outcomes for 13 Patients.

Rose AM. et al, (2017), Front Oncol, 7

Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.

Rose AM. and Bhattacharya SS., (2016), Clinical genetics, 90, 118 - 126

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.

Rose AM. et al, (2016), Scientific reports, 6

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

Rose AM. et al, (2015), Eye (London, England), 29, 1226 - 1232

Late presentation to hospital services necessitates greater community-based care for malnourished children.

Rose AM., (2015), Journal of tropical pediatrics, 61, 61 - 64

Staphylococcus lugdunensis septic arthritis and epidural abscess in a patient with rheumatoid arthritis receiving anti-tumour necrosis factor therapy.

Rose AM. et al, (2014), Rheumatology (Oxford, England), 53

Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".

Rose AM. et al, (2014), Ann Hum Genet, 78, 62 - 71

Load More

Include forthcoming?