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Number of items at this level: 78.


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, Baquero-Perez, B, Watson, CM et al. (7 more authors) (2017) m6aViewer: software for the detection, analysis and visualization of N6-methyl-adenosine peaks from m6A-seq/ME-RIP sequencing data. RNA, 23 (10). pp. 1493-1501. ISSN 1355-8382

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


Bengani, H, Handley, M, Alvi, M et al. (31 more authors) (2017) Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetics in Medicine, 19 (8). pp. 900-908. ISSN 1098-3600

Blok, LS, Rousseau, J, Twist, J et al. (77 more authors) (2019) Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 10. 2079. ISSN 2041-1723

Bonnefoy, S, Watson, CM, Kernohan, KD et al. (22 more authors) (2018) Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. American Journal of Human Genetics, 103 (5). pp. 727-739. ISSN 0002-9297

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 and Foulkes, WD (2017) Genetics meets Pathology - an increasingly important relationship. Journal of Pathology, 241 (2). pp. 119-122. ISSN 0022-3417

Brocklehurst, S, Watson, M, Carr, IM et al. (3 more authors) (2018) Induction of epigenetic variation in Arabidopsis by over-expression of DNA METHYLTRANSFERASE1 (MET1). PLoS ONE, 13 (2). e0192170. ISSN 1932-6203


Carr, IM, 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


Diggle, CP, 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, 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

Dimitriou, R, Carr, IM, West, RM et al. (2 more authors) (2011) Genetic predisposition to fracture non-union: a case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathway. BMC Musculoskeletal Disorders, 12. 44. ISSN 1471-2474


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


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

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


Gala De Pablo, J, Armistead, FJ, Peyman, SA et al. (4 more authors) (2018) Biochemical fingerprint of colorectal cancer cell lines using label-free live single-cell Raman spectroscopy. Journal of Raman Spectroscopy, 49 (8). pp. 1323-1332. ISSN 0377-0486

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


Hall, EA, Nahorski, MS, Murray, LM et al. (32 more authors) (2017) PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. The American Journal of Human Genetics, 100 (5). pp. 706-724. ISSN 0002-9297

Handley, MT, Reddy, K, Wills, J et al. (18 more authors) (2019) ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. PLOS GENETICS, 15 (3). ARTN e1007605. ISSN 1553-7390

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

Hull, MA, Cuthbert, RJ, 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


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


Karamendin, K, Kydyrmanov, A, Kasymbekov, Y et al. (9 more authors) (2017) Novel avian paramyxovirus isolated from gulls in Caspian seashore in Kazakhstan. PLoS ONE, 12 (12). e0190339. ISSN 1932-6203

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, 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, 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) (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

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

Kotan, LD, Cooper, C, Darcan, Ş et al. (12 more authors) (2016) Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. Journal of Clinical Research in Pediatric Endocrinology, 8 (2). pp. 125-134. ISSN 1308-5727


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

Lopez, JR, Kaura, V, Diggle, CP et al. (2 more authors) (2018) Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1. British Journal of Anaesthesia, 121 (4). pp. 953-961. ISSN 0007-0912


Mahil, SK, Catapano, M, Di Meglio, P et al. (10 more authors) (2017) An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target. Science Translational Medicine, 9 (411). eaan2514. ISSN 1946-6234

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

Marques, P, Spencer, R, Morrison, PJ et al. (5 more authors) (2018) Cantú syndrome with coexisting familial pituitary adenoma. Endocrine, 59 (3). pp. 677-684. ISSN 1355-008X

McRae, JF, Clayton, S, Fitzgerald, TW et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542. pp. 433-438. ISSN 0028-0836

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

Melnik, S, Deng, B, Papantonis, A et al. (3 more authors) (2011) The proteomes of transcription factories containing RNA polymerases I, II or III. Nature Methods, 8 (11). pp. 963-968. ISSN 1548-7091

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


Nguyen, TTM, Murakami, Y, Sheridan, E et al. (29 more authors) (2017) Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. American Journal of Human Genetics, 101 (5). pp. 856-865. ISSN 0002-9297


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.

Pardo, CE, Carr, IM, Hoffman, CJ et al. (4 more authors) (2011) MethylViewer: computational analysis and editing for bisulfite sequencing and methyltransferase accessibility protocol for individual templates (MAPit) projects. Nucleic Acids Research, 39 (1). e5. ISSN 0305-1048

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, Murillo, G, Brookes, SJ et al. (6 more authors) (2014) Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. Human Molecular Genetics, 23 (20). pp. 5317-5324. ISSN 0964-6906

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.

Péron, S, Metin, A, Gardès, P et al. (5 more authors) (2008) Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. Journal of Experimental Medicine, 205 (11). pp. 2465-2472. ISSN 0022-1007


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


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

Shoemark, A, Moya, E, Hirst, RA et al. (34 more authors) (2018) High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax, 73 (2). pp. 157-166. ISSN 0040-6376

Smith, CEL, Alexandraki, A, Cordery, SF et al. (3 more authors) (2017) A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes. PLoS ONE, 12 (9). e0185678. ISSN 1932-6203

Smith, CEL, Kirkham, J, Day, PF 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, Murillo, G, Brookes, SJ 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, Poulter, JA, Antanaviciute, A et al. (4 more authors) (2017) Amelogenesis Imperfecta; Genes, Proteins And Pathways. Frontiers in Physiology, 8. 435. ISSN 1664-042X

Smith, CEL, Poulter, JA, Brookes, SJ et al. (8 more authors) (2019) Phenotype and variant spectrum in the LAMB3 form of amelogenesis imperfecta. Journal of Dental Research, 98 (6). pp. 698-704. ISSN 0022-0345

Smith, CEL, Whitehouse, LLE, Poulter, JA 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

Snijders Blok, L, Rousseau, J, Twist, J et al. (76 more authors) (2018) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9 (1). 4619. ISSN 2041-1723


Taylor, RL, Arno, G, Poulter, JA 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

Taylor, RL, Handley, MT, Waller, S et al. (12 more authors) (2017) Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. Investigative Ophthalmology & Visual Science, 58 (1). pp. 594-603. ISSN 0146-0404

Tiganescu, A, Farraj, LA, Carr, IM 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


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

Vijayakrishnan, J, Studd, J, Broderick, P et al. (37 more authors) (2018) Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia. Nature Communications, 9 (1). 1340. ISSN 2041-1723

van Genderen, MM, Khan, KN, Robson, A et al. (3 more authors) (2018) Clinical and molecular characteristics of CRB1‐associated maculopathy. In: Acta Ophthalmologica. Netherlands Ophthalmological Society (NOG) Annual Congress, 21-23 Mar 2018, Groningen, The Netherlands. Wiley , p. 28.


Walker, L, Watson, CM, Hewitt, S et al. (3 more authors) (2019) An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities. Journal of Obstetrics and Gynaecology, 39 (3). pp. 328-334. ISSN 0144-3615

Watson, CM, Camm, N, Crinnion, LA et al. (6 more authors) (2017) Characterization and Genomic Localization of a SMAD4 Processed Pseudogene. Journal of Molecular Diagnostics, 19 (6). pp. 933-940. ISSN 1525-1578

Watson, CM, Camm, N, Crinnion, LA et al. (7 more authors) (2017) Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads. Molecular Diagnosis and Therapy, 21 (6). pp. 685-692. ISSN 1177-1062

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

Watson, CM, Stockdale, C, Berry, I et al. (5 more authors) (2019) RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency. Journal of Clinical Immunology, 39 (3). pp. 270-273. ISSN 0271-9142

Whitehouse, LLE, Smith, CEL, Poulter, JA et al. (10 more authors) (2019) Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome. Oral Diseases, 25 (1). pp. 182-191. ISSN 1354-523X


Ye, S, Wheeler, MC, McLaughlan, JR et al. (6 more authors) (2018) Developing Hollow-Channel Gold Nanoflowers as Trimodal Intracellular Nanoprobes. International Journal of Molecular Sciences, 19 (8). 2327. ISSN 1661-6596

This list was generated on Thu Feb 22 03:56:04 2024 GMT.