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Number of items at this level: 65.

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, 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

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

Brocklehurst, S, Watson, M, Carr, IM orcid.org/0000-0001-9544-1068 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

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

Gala De Pablo, J orcid.org/0000-0003-0557-9632, Armistead, FJ, Peyman, SA orcid.org/0000-0002-1600-5100 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

H

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

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 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

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

K

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 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

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

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

Lopez, JR, Kaura, V orcid.org/0000-0002-8984-9662, Diggle, CP orcid.org/0000-0001-6861-359X 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

M

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

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

N

Nguyen, TTM, Murakami, Y, Sheridan, E orcid.org/0000-0002-7237-6280 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

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, 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 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, 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

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

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

W

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

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

Y

Ye, S orcid.org/0000-0001-5152-5753, Wheeler, MC, McLaughlan, JR orcid.org/0000-0001-5795-4372 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 Mon Oct 15 04:07:43 2018 BST.