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Professor Joanne Knight

Chair in Applied Data Science, Reader in Applied Data Science

  1. Published

    Investigation into the ability of SNP chipsets and microsatellites to detect association with a disease locus

    Curtis, D., Vine, A. E. & Knight, J., 07/2008, In: Annals of Human Genetics. 72, 4, p. 547-556 10 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  2. Published

    Investigation of chromosome 17q as a locus for human essential hypertension in African Caribbeans

    Knight, J., Gardner, G. T., Clark, A. J. & Caulfield, M. J., 06/2000, In: Journal of Human Hypertension. 14, 6, p. 385-387 3 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  3. Published

    Investigation of the ability of haplotype association and logistic regression to identify associated susceptibility loci

    North, B. V., Sham, P. C., Knight, J., Martin, E. R. & Curtis, D., 11/2006, In: Annals of Human Genetics. 70, 6, p. 893-906 14 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  4. Published

    Investigation of TSPO variants in schizophrenia and antipsychotic treatment outcomes

    Pouget, J. G., Gonçalves, V. F., Nurmi, E. L., Laughlin, C. P., Mallya, K. S., McCracken, J. T., Aman, M. G., McDougle, C. J., Scahill, L., Misener, V. L., Tiwari, A. K., Zai, C. C., Brandl, E. J., Felsky, D., Leung, A. Q., Lieberman, J. A., Meltzer, H. Y., Potkin, S. G., Niedling, C., Steimer, W. & 4 others, Leucht, S., Knight, J., Müller, D. J. & Kennedy, J. L., 01/2015, In: Pharmacogenomics. 16, 1, p. 5-22 18 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  5. Published

    Late-onset epilepsy predicts stroke: Systematic review and meta-analysis

    Wall, J., Knight, J. & Emsley, H. C. A., 1/02/2021, In: Epilepsy and Behavior. 115, 6 p., 107634.

    Research output: Contribution to Journal/MagazineReview articlepeer-review

  6. Published

    LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

    Schizophrenia Working Group of the Psychiatric Genomics Consortium, 03/2015, In: Nature Genetics. 47, 3, p. 291-295 5 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  7. Published

    Leveraging Genomic Annotations and Pleiotropic Enrichment for Improved Replication Rates in Schizophrenia GWAS

    Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium, 01/2016, In: PLoS Genetics. 12, 1, 22 p., e1005803.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  8. Published

    Mapping loci influencing blood pressure in the Framingham pedigrees using model-free LOD score analysis of a quantitative trait

    Knight, J., North, B. V., Sham, P. C. & Curtis, D., 31/12/2003, In: Genetics. 4 , Suppl. 1, 4 p., S74.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  9. Published

    Modeling linkage disequilibrium increases accuracy of polygenic risk scores

    Schizophrenia Working Group of the Psychiatric Genomics Consortium, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study, 1/10/2015, In: American Journal of Human Genetics. 97, 4, p. 576-592 17 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  10. Published

    Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis

    Onoufriadis, A., Simpson, M. A., Pink, A. E., Di Meglio, P., Smith, C. H., Pullabhatla, V., Knight, J., Spain, S. L., Nestle, F. O., Burden, A. D., Capon, F., Trembath, R. C. & Barker, J. N. W. N., 9/09/2011, In: American Journal of Human Genetics. 89, 3, p. 432-437 6 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  11. Published

    NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis: a case-control association study

    Nibali, L., Parkar, M., Brett, P., Knight, J., Tonetti, M. S. & Griffiths, G. S., 08/2006, In: Journal of Clinical Periodontology. 33, 8, p. 529-539 11 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  12. Published

    Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders

    Beall, C. M., Cavalleri, G. L., Deng, L., Elston, R. C., Gao, Y., Knight, J., Li, C., Li, J. C., Liang, Y., McCormack, M., Montgomery, H. E., Pan, H., Robbins, P. A., Shianna, K. V., Tam, S. C., Tsering, N., Veeramah, K. R., Wang, W., Wangdui, P., Weale, M. E. & 9 others, Xu, Y., Xu, Z., Yang, L., Zaman, M. J., Zeng, C., Zhang, L., Zhang, X., Zhaxi, P. & Zheng, Y. T., 22/06/2010, In: Proceedings of the National Academy of Sciences of the United States of America. 107, 25, p. 11459-11464 6 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  13. Published

    No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study

    Schizophrenia Working Group of the Psychiatric Genomics Consortium, 28/10/2016, In: PLoS Genetics. 12, 10, 20 p., e1006343.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  14. Published

    Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

    Schizophrenia Working Group of the Psychiatric Genomics Consortium, 6/11/2014, In: American Journal of Human Genetics. 95, 5, p. 535-552 18 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  15. Published

    Polymorphisms in the phosphate and tensin homolog gene are not associated with late-onset Alzheimer's disease

    Hamilton, G., Samedi, F., Knight, J., Archer, N., Foy, C., Walter, S., Turic, D., Jehu, L., Moore, P., Hollingworth, P., O'Donovan, M. C., Williams, J., Owen, M. J., Lovestone, S. & Powell, J. F., 19/06/2006, In: Neuroscience Letters. 401, 1-2, p. 77-80 4 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  16. Published

    Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes

    Prescott, N. J., Lehne, B., Stone, K., Lee, J. C., Taylor, K., Knight, J., Papouli, E., Mirza, M. M., Simpson, M. A., Spain, S. L., Lu, G., Fraternali, F., Bumpstead, S. J., Gray, E., Amar, A., Bye, H., Green, P., Chung-Faye, G., Hayee, BH., Pollok, R. & 10 others, Satsangi, J., Parkes, M., Barrett, J. C., Mansfield, J. C., Sanderson, J., Lewis, C. M., Weale, M. E., Schlitt, T., Mathew, C. G. & UK IBD Genetics Consortium, 11/02/2015, In: PLoS Genetics. 11, 2, e1004955.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  17. Published

    Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia

    Wellcome Trust Case Control Consortium 2 & Schizophrenia Working Group of the Psychiatric Genomics Consortium, 1/04/2019, In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics . 180, 3, p. 223-231 9 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  18. Published

    Predictors of outcome in ulcerative colitis

    Waterman, M., Knight, J., Dinani, A., Xu, W., Stempak, J. M., Croitoru, K., Nguyen, G. C., Cohen, Z., McLeod, R. S., Greenberg, G. R., Steinhart, A. H. & Silverberg, M. S., 09/2015, In: Inflammatory Bowel Diseases. 21, 9, p. 2097-2105 9 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  19. Published

    Problematising Characteristicness: A Biomedical Association Case Study

    Prentice, S., Knight, J., Rayson, P., El-Haj, M. & Rutherford, N., 31/08/2021, In: International Journal of Corpus Linguistics. 26, 3, p. 305-335 31 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  20. Published

    Profiling Medical Journal Articles Using a Gene Ontology Semantic Tagger

    El Haj, M., Rayson, P. E., Piao, S. S. & Knight, J., 11/05/2018, LREC 2018, Eleventh International Conference on Language Resources and Evaluation. Calzolari, N., Choukri, K., Cieri, C., Declerck, T., Goggi, S., Hasida, K., Isahara, H., Maegaard, B., Mariani, J., Mazo, H., Moreno, A., Odijk, J., Piperidis, S. & Tokunaga, T. (eds.). European Language Resources Association (ELRA), p. 4593-4597 5 p.

    Research output: Contribution in Book/Report/Proceedings - With ISBN/ISSNConference contribution/Paperpeer-review

  21. Published

    Program report: GENECOUNTING support programs

    Curtis, D., Knight, J. & Sham, P. C., 03/2006, In: Annals of Human Genetics. 70, Pt 2, p. 277-279 3 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  22. Published

    Protein kinase cAMP-dependent regulatory type II beta (PRKAR2B) gene variants in antipsychotic-induced weight gain

    Gagliano, S. A., Tiwari, A. K., Freeman, N., Lieberman, J. A., Meltzer, H. Y., Kennedy, J. L., Knight, J. & Müller, D. J., 07/2014, In: Human Psychopharmacology: Clinical and Experimental. 29, 4, p. 330-335 6 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  23. Published

    Quantitative trait locus analysis of candidate gene alleles associated with attention deficit hyperactivity disorder (ADHD) in five genes: DRD4, DAT1, DRD5, SNAP-25, and 5HT1B

    Mill, J., Xu, X., Ronald, A., Curran, S., Price, T., Knight, J., Craig, I., Sham, P., Plomin, R. & Asherson, P., 5/02/2005, In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics . 133B, 1, p. 68-73 6 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  24. Published

    Regional multi-locus association models

    Knight, J., Sham, P., Shaun, P. & Neale, B., 2007, Statistical genetics: gene mapping through linkage and association. Neale, B., Ferreira, M., Medland, S. & Posthuma, D. (eds.). London: Taylor and Francis

    Research output: Contribution in Book/Report/Proceedings - With ISBN/ISSNChapter

  25. Published

    Routinely collected patient data in neurology research: a systematic mapping review

    Biggin, F., Emsley, H. & Knight, J., 27/11/2020, In: BMC Neurology. 20, 9 p., 431.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  26. Published

    Schizophrenia risk from complex variation of complement component 4

    Schizophrenia Working Group of the Psychiatric Genomics Consortium, 11/02/2016, In: Nature. 530, 7589, p. 177-183 7 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  27. Published

    Smoking gun or circumstantial evidence? comparison of statistical learning methods using functional annotations for prioritizing risk variants

    Gagliano, S. A., Ravji, R., Barnes, M. R., Weale, M. E. & Knight, J., 24/08/2015, In: Scientific Reports. 5, 11 p., 13373.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  28. Published

    SNPs, microarrays and pooled DNA: identification of four loci associated with mild mental impairment in a sample of 6000 children

    Butcher, L. M., Meaburn, E., Knight, J., Sham, P. C., Schalkwyk, L. C., Craig, I. W. & Plomin, R., 15/05/2005, In: Human Molecular Genetics. 14, 10, p. 1315-1325 11 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  29. Published

    Software for generating liability distributions for pedigrees conditional on their observed disease states and covariates

    Campbell, D. D., Sham, P. C., Knight, J., Wickham, H. & Landau, S., 02/2010, In: Genetic Epidemiology. 34, 2, p. 159-170 12 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  30. Published

    Study of regions of extended homozygosity provides a powerful method to explore haplotype structure of human populations

    Curtis, D., Vine, A. E. & Knight, J., 03/2008, In: Annals of Human Genetics. 72, 2, p. 261-278 18 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  31. Published

    The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes

    Brookes, K., Xu, X., Chen, W., Zhou, K., Neale, B., Lowe, N., Anney, R., Franke, B., Gill, M., Ebstein, R., Buitelaar, J., Sham, P., Campbell, D., Knight, J., Andreou, P., Altink, M., Arnold, R., Boer, F., Buschgens, C., Butler, L. & 42 others, Christiansen, H., Feldman, L., Fleischman, K., Fliers, E., Howe-Forbes, R., Goldfarb, A., Heise, A., Gabriëls, I., Korn-Lubetzki, I., Johansson, L., Marco, R., Medad, S., Minderaa, R., Mulas, F., Müller, U., Mulligan, A., Rabin, K., Rommelse, N., Sethna, V., Sorohan, J., Uebel, H., Psychogiou, L., Weeks, A., Barrett, R., Craig, I., Banaschewski, T., Sonuga-Barke, E., Eisenberg, J., Kuntsi, J., Manor, I., McGuffin, P., Miranda, A., Oades, R. D., Plomin, R., Roeyers, H., Rothenberger, A., Sergeant, J., Steinhausen, H-C., Taylor, E., Thompson, M., Faraone, S. V. & Asherson, P., 10/2006, In: Molecular Psychiatry. 11, 10, p. 934-953 20 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  32. Published

    The Bipolar Association Case-Control Study (BACCS) and meta-analysis: no association with the 5,10-Methylenetetrahydrofolate reductase gene and bipolar disorder

    Cohen-Woods, S., Craig, I., Gaysina, D., Gray, J., Gunasinghe, C., Craddock, N., Elkin, A., Jones, L., Kennedy, J., King, N., Korszun, A., Knight, J., Owen, M., Parikh, S., Strauss, J., Sterne, A., Tozzi, F., Perry, J., Muglia, P., Vincent, J. & 2 others, McGuffin, P. & Farmer, A., 5/10/2010, In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics . 153B, 7, p. 1298-1304 7 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  33. Published

    The effect of haplotype-block definitions on inference of haplotype-block structure and htSNPs selection

    Ding, K., Zhou, K., Zhang, J., Knight, J., Zhang, X. & Shen, Y., 01/2005, In: Molecular Biology and Evolution. 22, 1, p. 148-159 12 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  34. Published

    The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia

    GROUP Investigators & Schizophrenia Working Group of the Psychiatric Genomics Consortium, 1/03/2020, In: Schizophrenia Bulletin. 46, 2, p. 336-344 9 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  35. Published

    The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bulimia nervosa

    Yilmaz, Z., Kaplan, A. S., Tiwari, A. K., Levitan, R. D., Piran, S., Bergen, A. W., Kaye, W. H., Hakonarson, H., Wang, K., Berrettini, W. H., Brandt, H. A., Bulik, C. M., Crawford, S., Crow, S., Fichter, M. M., Halmi, K. A., Johnson, C. L., Keel, P. K., Klump, K. L., Magistretti, P. & 7 others, Mitchell, J., Strober, M., Thornton, L. M., Treasure, J., Woodside, D. B., Knight, J. & Kennedy, J. L., 08/2014, In: Journal of Psychiatric Research. 55, p. 77-86 10 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  36. Published

    The role of polygenic risk score gene-set analysis in the context of the omnigenic model of schizophrenia

    Schizophrenia Working Group of the Psychiatric Genomics Consortium 2, 1/08/2019, In: Neuropsychopharmacology. 44, 9, p. 1562-1569 8 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  37. Published

    Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

    Schizophrenia Working Group of the Psychiatric Genomics Consortium, 04/2018, In: Nature Genetics. 50, 4, p. 538-548 11 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  38. Published

    Transferability Of Ancestry-Specific And Cross-Ancestry CYP2A6 Activity Genetic Risk Scores In African And European Populations

    El-Boraie, A., Chenoweth, M. J., Pouget, J. G., Benowitz, N. L., Fukunaga, K., Mushiroda, T., Kubo, M., Nollen, N. L., Cox, L. S., Lerman, C., Knight, J. & Tyndale, R. F., 31/10/2021, In: Clinical pharmacology and therapeutics. 110, 4, p. 975-985 11 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  39. Published

    TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease

    Garcia-Barcelo, M., Ganster, R. W., Lui, V. C. H., Leon, T. Y. Y., So, M-T., Lau, A. M. F., Fu, M., Sham, M-H., Knight, J., Zannini, M. S., Sham, P. C. & Tam, P. K. H., 15/01/2005, In: Human Molecular Genetics. 14, 2, p. 191-204 14 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  40. Published

    Unraveling DNA sequence to identify cerebral indicators of dementia risk

    Masellis, M. & Knight, J., 16/01/2018, In: Neurology. 90, 3, p. 109 1 p.

    Research output: Contribution to Journal/MagazineComment/debate

  41. Published

    Using functional annotation for the empirical determination of Bayes Factors for genome-wide association study analysis

    Knight, J., Barnes, M. R., Breen, G. & Weale, M. E., 27/04/2011, In: PLoS ONE. 6, 4, 8 p., e14808.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  42. Published

    Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

    Simpson, C. L., Lemmens, R., Miskiewicz, K., Broom, W. J., Hansen, V. K., van Vught, P. W. J., Landers, J. E., Sapp, P., Van Den Bosch, L., Knight, J., Neale, B. M., Turner, M. R., Veldink, J. H., Ophoff, R. A., Tripathi, V. B., Beleza, A., Shah, M. N., Proitsi, P., Van Hoecke, A., Carmeliet, P. & 10 others, Horvitz, H. R., Leigh, P. N., Shaw, C. E., van den Berg, L. H., Sham, P. C., Powell, J. F., Verstreken, P., Brown, R. H., Robberecht, W. & Al-Chalabi, A., 1/02/2009, In: Human Molecular Genetics. 18, 3, p. 472-481 10 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  43. Published

    Variation in waiting times by diagnostic category: an observational study of 1,951 referrals to a neurology outpatient clinic

    Biggin, F., Howcroft, T., Davies, Q., Knight, J. & Emsley, H., 31/05/2021, In: BMJ Neurology Open. 3, 1, 8 p., 000133.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

  44. Published

    Whole genome linkage scan of recurrent depressive disorder from the depression network study

    McGuffin, P., Knight, J., Breen, G., Brewster, S., Boyd, P. R., Craddock, N., Gill, M., Korszun, A., Maier, W., Middleton, L., Mors, O., Owen, M. J., Perry, J., Preisig, M., Reich, T., Rice, J., Rietschel, M., Jones, L., Sham, P. & Farmer, A. E., 15/11/2005, In: Human Molecular Genetics. 14, 22, p. 3337-3345 9 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review

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