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Number of items at this level: 70.

A

Abdelhamed, ZA, Ryan, TA, Fuller, M et al. (9 more authors) (2018) Characterization of Primary Cilia in Normal Fallopian Tube Epithelium and Serous Tubal Intraepithelial Carcinoma. International Journal of Gynecological Cancer, 28 (8). pp. 1535-1544. ISSN 1048-891X

Adams, M, Cookson, VJ, Higgins, J et al. (5 more authors) (2014) A high-throughput assay to identify modifiers of premature chromosome condensation. Journal of Biomolecular Screening, 19 (1). 176 - 183. ISSN 1087-0571

Al-Amri, A, Saegh, AA, Al-Mamari, W et al. (6 more authors) (2016) Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family. American Journal of Medical Genetics Part A, 170 (7). pp. 1826-1831. ISSN 1552-4825

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

Alsiary, R, Brownhill, SC, Brüning-Richardson, A orcid.org/0000-0002-9862-9805 et al. (6 more authors) (2018) Expression analysis of the MCPH1/BRIT1 and BRCA1 tumor suppressor genes and telomerase splice variants in epithelial ovarian cancer. Gene, 672. pp. 34-44. ISSN 1879-0038

Alsiary, R, Brüning-Richardson, A, Bond, J et al. (3 more authors) (2014) Deregulation of microcephalin and ASPM expression are correlated with epithelial ovarian cancer progression. PLoS ONE, 9 (5). e97059. ISSN 1932-6203

Arno, G, Agrawal, SA, Eblimit, A et al. (27 more authors) (2016) Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. American Journal of Human Genetics, 99 (6). pp. 1305-1315. ISSN 0002-9297

Astuti, G, van den Born, L, Khan, M et al. (14 more authors) (2018) Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. Genes, 9 (1). p. 21. ISSN 2073-4425

B

Bedoni, N, Haer-Wigman, L, Vaclavik, V et al. (28 more authors) (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25 (20). pp. 4546-4555. ISSN 0964-6906

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

Bruel, A-L, Franco, B, Duffourd, Y et al. (49 more authors) (2017) Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics, 54 (6). pp. 371-380. ISSN 0022-2593

Brüning-Richardson, A, Bond, J, Alsiary, R et al. (9 more authors) (2012) NuMA overexpression in epithelial ovarian cancer. PLoS One, 7 (6). ARTN e38945. e38945 - ?. ISSN 1932-6203

Buskin, A, Zhu, L, Chichagova, V et al. (39 more authors) (2018) Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Nature Communications, 9 (1). ARTN 4234. ISSN 2041-1723

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

Cockle, JV, Brüning-Richardson, A, Scott, KJ et al. (13 more authors) (2017) Oncolytic herpes simplex virus inhibits paediatric brain tumour migration and invasion. Molecular Therapy - Oncolytics, 5. pp. 75-86. ISSN 2372-7705

D

Dent, J, Hall, GD, Wilkinson, N et al. (5 more authors) (2003) Cytogenetic alterations in ovarian clear cell carcinoma detected by comparative genomic hybridisation. British Journal of Cancer, 88 (10). pp. 1578-1583. ISSN 0007-0920

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

Fiorentino, A, Yu, J, Arno, G et al. (28 more authors) (2018) Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. Molecular Vision, 24. pp. 603-612. ISSN 1090-0535

G

Gai, M, Bianchi, FT, Vagnoni, C et al. (13 more authors) (2016) ASPM and CITK regulate spindle orientation by affecting the dynamics of astral microtubules. EMBO Reports, 17 (10). pp. 1361-1497. ISSN 1469-221X

H

Hallam, D, Collin, J, Bojic, S et al. (17 more authors) (2017) An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age‐Related Macular Degeneration and Indicates a Beneficial Role for UV Light Exposure. Stem Cells, 35 (11). pp. 2305-2320. ISSN 1066-5099

Hartill, V, Szymanska, K orcid.org/0000-0001-7736-5225, Malik Sharif, S et al. (2 more authors) (2017) Meckel-Gruber syndrome: an update on diagnosis, clinical management and research advances. Frontiers in Pediatrics, 5. 244. ISSN 2296-2360

Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906

Hirji, N, Bradley, PD, Li, S et al. (10 more authors) (2018) Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta. AMERICAN JOURNAL OF OPHTHALMOLOGY, 188. pp. 123-130. ISSN 0002-9394

J

Jaureguiberry, G, De la Dure-Molla, M, Parry, D et al. (68 more authors) (2013) Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations. Nephron Physiology, 122 (1-2). pp. 1-6. ISSN 1660-8151

Johnson, CA orcid.org/0000-0002-2979-8234 and Collis, SJ (2016) Ciliogenesis and the DNA damage response: A stressful relationship. Cilia, 5 (1). 19.

K

Kamal, M, Holliday, DL, Morrison, EE et al. (3 more authors) (2017) Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasion. Oncology Reports, 38 (1). pp. 283-292. ISSN 1021-335X

Kennedy, H, Haack, TB, Hartill, V et al. (32 more authors) (2016) Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. American Journal of Human Genetics. ISSN 0002-9297

Khan, K, Logan, CV, McKibbin, M et al. (18 more authors) (2012) Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Human Molecular Genetics, 21 (4). pp. 776-783. ISSN 0964-6906

Khan, KN, Lord, EC orcid.org/0000-0001-9216-7382, Arno, G et al. (10 more authors) (2018) Detailed Retinal Imaging In Carriers Of Ocular Albinism. Retina, 38 (3). pp. 620-628. ISSN 1539-2864

Khan, KN, Robson, A, Mahroo, OAR et al. (13 more authors) (2018) A clinical and molecular characterisation of CRB1-associated maculopathy. European Journal of Human Genetics, 26. pp. 687-694. ISSN 1018-4813

Klaus, K, Butler, K, Durrant, SJ et al. (5 more authors) (2017) The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress. Brain and Behavior, 7 (5). e00695. ISSN 2162-3279

L

Lako, M, Buskin, A, Zhu, L et al. (12 more authors) (2018) Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa. In: Investigative Ophthalmology & Visual Science. ARVO Annual Meeting 2018, 29 Apr - 03 May 2018, Honolulu, Hawaii, USA. Association for Research in Vision and Ophthalmology .

Lambacher, NJ, Bruel, A, van Dam, TJP et al. (21 more authors) (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nature Cell Biology, 18 (1). pp. 122-131. ISSN 1465-7392

Lee, CS, Lee, AY, Baughman, D et al. (22 more authors) (2017) The United Kingdom Diabetic Retinopathy Electronic Medical Record Users Group: Report 3: Baseline Retinopathy and Clinical Features Predict Progression of Diabetic Retinopathy. American Journal of Ophthalmology, 180. pp. 64-71. ISSN 0002-9394

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

Lorés-Motta, L, Riaz, M, Grunin, M et al. (31 more authors) (2018) Association of Genetic Variants With Response to Anti–Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration. JAMA Ophthalmology, 136 (8). pp. 875-884. ISSN 2168-6165

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

Malicki, JJ and Johnson, CA orcid.org/0000-0002-2979-8234 (2017) The Cilium: Cellular Antenna and Central Processing Unit. Trends in Cell Biology, 27 (2). pp. 126-140. ISSN 0962-8924

Martin, HL, Adams, M, Higgins, J et al. (6 more authors) (2014) High-content, high-throughput screening for the identification of cytotoxic compounds based on cell morphology and cell proliferation markers. PLoS One, 9 (2). e88338. ISSN 1932-6203

Martin, HL, Smith, L and Tomlinson, DC (2014) Multidrug-resistant breast cancer: Current perspectives. Breast Cancer: Targets and Therapy, 6. 1 - 13. ISSN 1179-1314

Merrick, AE, Errington, F orcid.org/0000-0003-2155-534X, Milward, K et al. (8 more authors) (2005) Immunosuppressive effects of radiation on human dendritic cells: reduced IL-12 production on activation and impairment of naïve T-cell priming. British Journal of Cancer, 92 (8). pp. 1450-1458. ISSN 0007-0920

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

Molinari, E, Decker, E, Mabillard, H et al. (12 more authors) (2018) Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. European Journal of Human Genetics. ISSN 1018-4813

P

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

Parry, DA, Brookes, SJ, Logan, CV et al. (19 more authors) (2012) Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. American Journal of Human Genetics, 91 (3). 565 - 571. ISSN 0002-9297

Parry, DA, Holmes, TD, Gamper, N et al. (12 more authors) (2016) A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. Elsevier.

Parry, DA, Smith, CEL orcid.org/0000-0001-8320-5105, El-Sayed, W et al. (17 more authors) (2016) Mutations in the pH Sensing G-protein Coupled Receptor GPR68 cause Amelogenesis Imperfecta. American Journal of Human Genetics, 99 (4). pp. 984-990. 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, El-Sayed, W, Shore, RC et al. (3 more authors) (2013) Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. European Journal of Human Genetics, 22. 132 - 135. ISSN 1018-4813

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.

R

Riches, K, Franklin, L, Maqbool, A et al. (10 more authors) (2013) Apolipoprotein(a) acts as a chemorepellent to human vascular smooth muscle cells via integrin αVβ3 and RhoA/ROCK-mediated mechanisms. The International Journal of Biochemistry and Cell Biology, 45 (8). 1776 - 1783. ISSN 1357-2725

Ryan, TA, Roper, KM, Bond, J et al. (3 more authors) (2018) A MAPK/c-Jun-mediated switch regulates the initial adaptive and cell death responses to mitochondrial damage in a neuronal cell model. The International Journal of Biochemistry and Cell Biology, 104. pp. 73-86. ISSN 1357-2725

S

Savic, S, Parry, D, Carter, C et al. (7 more authors) (2015) A new case of Fas-associated death domain protein deficiency and update on treatment outcomes. Journal of Allergy and Clinical Immunology, 136 (2). 502 - 505. ISSN 0091-6749

Schmidts, M, Hou, Y, Cortés, CR et al. (25 more authors) (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications, 6. 7074.

Sergouniotis, PI, McKibbin, M, Robson, AG et al. (14 more authors) (2015) Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Investigative Ophthalmology & Visual Science, 56 (13). pp. 8083-8090. ISSN 0146-0404

Sergouniotis, PI, Robson, AG, El-Asrag, ME et al. (7 more authors) (2017) Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype. Lancet, 389. p. 14. ISSN 0140-6736

Shaheen, R, Szymanska, K, Basu, B et al. (36 more authors) (2016) Characterizing the morbid genome of ciliopathies. Genome Biology, 17 (1). 242. ISSN 1474-760X

Shevach, E, Ali, M, Mizrahi-Meissonnier, L et al. (9 more authors) (2015) Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA Ophthalmology, 133 (3). 312 - 318. ISSN 2168-6165

Siddiqui, S, Zenteno, JC, Rice, A et al. (8 more authors) (2014) Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome. Cornea, 33 (3). 247 - 251. ISSN 0277-3740

Slaats, GG, Wheway, G, Foletto, V et al. (9 more authors) (2015) Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. Journal of Cell Science, 128 (24). pp. 4550-4559. ISSN 0021-9533

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, Poulter, JA orcid.org/0000-0003-2048-5693, Levin, AV et al. (9 more authors) (2016) Spectrum of PEX1 and PEX6 variants in Heimler syndrome. European Journal of Human Genetics, 24 (11). pp. 1565-1571. ISSN 1018-4813

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, 25 (8). pp. 1015-1019. 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

V

Van de Sompele, S, Smith, C orcid.org/0000-0001-8320-5105, Karali, M et al. (24 more authors) (2018) Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genetics in Medicine. ISSN 1098-3600

W

Wangtiraumnuay, N, Alnabi, WA, Tsukikawa, M et al. (5 more authors) (2018) Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations. Ophthalmic Genetics, 39 (3). pp. 384-390. ISSN 1381-6810

Whitehouse, LLE, Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (10 more authors) (2018) Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome. Oral Diseases. ISSN 1354-523X

X

Xu, M, Xie, YA, Abouzeid, H et al. (64 more authors) (2017) Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. American Journal of Human Genetics, 100 (4). pp. 592-604. ISSN 0002-9297

This list was generated on Thu Dec 13 03:54:02 2018 GMT.