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Number of items at this level: 45.

A

Al-Araimi, M, Pal, B, Poulter, JA et al. (10 more authors) (2013) A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. Molecular Vision, 19. 2165 - 2172. ISSN 1090-0535

Antanaviciute, A, Daly, C, Crinnion, LA et al. (4 more authors) (2015) GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles. Bioinformatics (Oxford, England). ISSN 1367-4803

Antanaviciute, A, Watson, CM, Harrison, SM et al. (5 more authors) (2015) OVA: Integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization. Bioinformatics, 31 (23). pp. 3822-3829. ISSN 1367-4803

B

Bonthron, DT (2015) HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics, 52 (12). pp. 797-803. ISSN 0022-2593

Bonthron, DT orcid.org/0000-0001-8132-8179 and Foulkes, WD (2017) Genetics meets Pathology - an increasingly important relationship. Journal of Pathology, 241 (2). pp. 119-122. ISSN 0022-3417

Brookes, SJ orcid.org/0000-0002-9097-7311, Barron, MJ, Smith, CEL orcid.org/0000-0001-8320-5105 et al. (7 more authors) (2017) Amelogenesis Imperfecta caused by N-Terminal Enamelin Point Mutations in Mice and Men is driven by Endoplasmic Reticulum Stress. Human Molecular Genetics, 26 (10). ISSN 0964-6906

C

Carr, IM orcid.org/0000-0001-9544-1068, Diggle, CP, Khan, K et al. (8 more authors) (2012) Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype. PLoS One, 7 (8). ARTN e43466. ISSN 1552-4973

D

Diggle, CP orcid.org/0000-0001-6861-359X, Martinez-Garay, I, Molnar, Z et al. (17 more authors) (2017) A Tubulin Alpha 8 Mouse Knockout Model Indicates a Likely Role in Spermatogenesis but Not in Brain Development. PLoS ONE, 12 (4). e0174264.

Diggle, CP, Moore, DJ, Mali, G et al. (21 more authors) (2014) HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus. PLoS Genetics, 10 (9). ARTN e1004577. ISSN 1553-7390

Diggle, CP, Sukoff Rizzo, SJ, Popiolek, M et al. (39 more authors) (2016) Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy. American Journal of Human Genetics, 98 (4). pp. 735-743. ISSN 0002-9297

E

El-Asrag, ME, Sergouniotis, PI, McKibbin, M et al. (16 more authors) (2015) Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement. American Journal of Human Genetics, 96 (6). 948 - 954. ISSN 0002-9297

F

Fiszer, D, Shaw, MA, Fisher, NA et al. (6 more authors) (2015) Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology, 122 (5). 1033 - 1046. ISSN 0003-3022

G

Giancane, G, Diggle, CP, Legger, EG et al. (7 more authors) (2015) Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment. Journal of Rheumatology, 42 (11). 2211 - 2214. ISSN 0315-162X

H

Hull, MA orcid.org/0000-0001-7414-1576, Cuthbert, RJ orcid.org/0000-0002-9054-5260, Ko, CWS et al. (9 more authors) (2017) Paracrine cyclooxygenase-2 activity by macrophages drives colorectal adenoma progression in the Apc Min/+ mouse model of intestinal tumorigenesis. Scientific Reports, 7 (1). 6074. pp. 1-14. ISSN 2045-2322

K

Karamendin, K, Kydyrmanov, A, Seidalina, A et al. (9 more authors) (2016) Complete Genome Sequence of a Novel Avian Paramyxovirus (APMV-13) Isolated from a Wild Bird in Kazakhstan. Genome Announcements, 4 (3). e00167-16.

Kelmemi, W, Teeuw, ME, Bochdanovits, Z et al. (17 more authors) (2015) Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome. BMC Medical Genetics, 16. 50. ISSN 1471-2350

Khan, KN, El-Asrag, ME, Ku, CA et al. (18 more authors) (2017) Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. Investigative Ophthalmology and Visual Science, 58 (7). pp. 2906-2914. ISSN 0146-0404

Khan, KN, Lord, EC, Arno, G et al. (10 more authors) (2017) DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. RETINA. ISSN 0275-004X

Kim, B, Stephen, SL, Hanby, AM et al. (9 more authors) (2015) Chemotherapy induces Notch1-dependent MRP1 up-regulation, inhibition of which sensitizes breast cancer cells to chemotherapy. BMC Cancer, 15. 634. ISSN 1471-2407

L

Leek, J, Lench, N, Maraj, B et al. (8 more authors) (1995) Prostate-specific membrane antigen: evidence for the existence of a second related human gene. British Journal of Cancer, 72 (3). pp. 583-588. ISSN 0007-0920

Logan, CV, Cossins, J, Cruz, PMR et al. (16 more authors) (2015) Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. American Journal of Human Genetics, 97 (6). pp. 878-885. ISSN 0002-9297

M

Makrythanasis, P, Kato, M, Zaki, MS et al. (18 more authors) (2016) Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. American Journal of Human Genetics, 98 (4). pp. 615-626. ISSN 0002-9297

Melnik, S, Caudron-Herger, M, Brant, L et al. (4 more authors) (2016) Isolation of the protein and RNA content of active sites of transcription from mammalian cells. Nature Protocols, 11 (3). pp. 553-565. ISSN 1754-2189

Mirzaa, GM, Parry, DA, Fry, AE et al. (31 more authors) (2014) De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics, 46 (5). pp. 510-515. ISSN 1061-4036

P

Palmer, TG, Wood, HM, Taylor, M et al. (3 more authors) (2015) Are Current Automated Approaches for Determining the Phylogeny of Multiple Deposits Capable of Interpreting the Complexity of Cancer Evolution? In: Journal of Pathology. Dublin Pathology 2015. 8th Joint Meeting of the British Division of the International Academy of Pathology and the Pathological Society of Great Britain & Ireland, 23-25 Jun 2015, Dublin, Ireland. Wiley , S27-S27.

Panagiotou, ES, Sanjurjo Soriano, C, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (15 more authors) (2017) Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. The American Journal of Human Genetics, 100 (6). pp. 960-968. ISSN 0002-9297

Poulter, JA, Al-Araimi, M, Conte, I et al. (26 more authors) (2013) Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism. American Journal of Human Genetics, 93 (6). 1143 - 1150. ISSN 0002-9297

Poulter, JA, Smith, CEL, Murrillo, G et al. (9 more authors) (2015) A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. Molecular Genetics & Genomic Medicine, 3 (6). pp. 543-549.

Price, DJ, Khuphe, M, Davies, RPW et al. (3 more authors) (2017) Poly(amino acid)-Poly(ester) Graft Copolymer Nanoparticles for the Acid-Mediated Release of Doxorubicin. Chemical Communications, 62. pp. 8687-8690. ISSN 1359-7345

R

Roscioli, T, Kamsteeg, E-J, Buysse, K et al. (32 more authors) (2012) Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nature Genetics, 44 (5). pp. 581-585. ISSN 1061-4036

S

Shastin, D, Peacock, S, Guruswamy, V et al. (10 more authors) (2017) A proposal for a new classification of complications in craniosynostosis surgery. Journal of Neurosurgery: Pediatrics, 19 (6). pp. 675-683. ISSN 1933-0707

Smith, CEL orcid.org/0000-0001-8320-5105, Kirkham, J, Day, P orcid.org/0000-0001-9711-9638 et al. (6 more authors) (2017) A Fourth KLK4 Mutation Is Associated With Enamel Hypomineralisation And Structural Abnormalities. Frontiers in Physiology, 8. 333. ISSN 1664-042X

Smith, CEL orcid.org/0000-0001-8320-5105, Murillo, G, Brookes, SJ orcid.org/0000-0002-9097-7311 et al. (5 more authors) (2016) Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. Human Molecular Genetics, 25 (16). pp. 3578-3587. ISSN 0964-6906

Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693, Antanaviciute, A et al. (4 more authors) (2017) Amelogenesis Imperfecta; Genes, Proteins And Pathways. Frontiers in Physiology, 8. 435. ISSN 1664-042X

Smith, CEL orcid.org/0000-0001-8320-5105, Whitehouse, LLE, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (6 more authors) (2017) Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. European Journal of Human Genetics. ISSN 1018-4813

T

Taylor, RL, Arno, G, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (17 more authors) (2017) Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmology, 135 (4). pp. 339-347. ISSN 2168-6165

Tiganescu, A orcid.org/0000-0003-3688-2204, Farraj, LA, Carr, IM orcid.org/0000-0001-9544-1068 et al. (6 more authors) (2016) 11 beta-hydroxysteroid dehydrogenase type 1 mediates anti-inflammatory, pro-inflammatory and inflammation-independent effects in primary human dermal fibroblasts. In: British Journal of Dermatology. British Skin Foundation, Skin Deep - 20 Years of Research, 20th Anniversary Conference, 13 Oct 2016, London, United Kingdom. Wiley , p. 64.

Touqan, N, Diggle, CP, Verghese, ET et al. (7 more authors) (2013) An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas. BMC Clinical Pathology, 13 (1). 32. pp. 1-9. ISSN 1472-6890

V

Vijayakrishnan, J, Henrion, M, Moorman, AV et al. (24 more authors) (2015) The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A. Scientific Reports, 5. 15065. ISSN 2045-2322

Vijayakrishnan, J, Kumar, R, Henrion, MYR et al. (26 more authors) (2017) A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1. Leukemia, 31 (3). pp. 573-579. ISSN 0887-6924

W

Watson, CM, Crinnion, LA, Berry, IR et al. (7 more authors) (2016) Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. BMC Medical Genetics, 17. 1. ISSN 1471-2350

Watson, CM, Crinnion, LA, Gurgel-Gianetti, J et al. (8 more authors) (2015) Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data. Human Mutation, 36 (9). pp. 823-830. ISSN 1059-7794

Watson, CM, Crinnion, LA, Harrison, SM et al. (5 more authors) (2016) A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. PLoS Neglected Tropical Diseases, 11 (6). e0157075. ISSN 1932-6203

Watson, CM, Crinnion, LA, Morgan, JE et al. (10 more authors) (2014) Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. Human Mutation, 35 (4). 434 - 441. ISSN 1059-7794

Watson, CM, Crinnion, LA, Murphy, H et al. (8 more authors) (2016) Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. Journal of Medical Genetics, 53 (4). pp. 264-269. ISSN 0022-2593

This list was generated on Fri Aug 18 03:51:00 2017 BST.