부산대학교 도서관

Hall R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; Gallon R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Hayes C; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Herrero-Belmonte P; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; Phelps R; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Job D; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; Wake R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; Ferrier M; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; Turner H; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; O'Donnell R; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; Nambiar A; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; Rai B; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; Martin R; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; McAnulty C; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; Santibanez-Koref M; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Heer R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; Division of Surgery, Imperial College London, London, SW7 2AZ, UK. Electronic address: rakesh.heer@newcastle.ac.uk.; Jackson MS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. Electronic address: Michael.jackson@newcastle.ac.uk.; Burn J; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK. Electronic address: john.burn@newcastle.ac.uk.

Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Richard Gallon; Patricia Herrero-Belmonte; Rachel Phelps; Christine Hayes; Elizabeth Sollars; Daniel Egan; Helena Spiewak; Sam Nalty; Sarah Mills; Peh Sun Loo; Gillian M. Borthwick; Mauro Santibanez-Koref; John Burn; Ciaron McAnulty; Michael S. Jackson

BJC Reports, Vol 2, Iss 1, Pp 1-11 (2024)

Arefi M; Wilson V; Muthiah S; Zwolinski S; Bajwa D; Brennan P; Blasdale K; Bourn D; Burn J; Santibanez-Koref M; Rajan N

J Am Acad Dermatol

M. S. Oud; R. M. Smits; H. E. Smith; F. K. Mastrorosa; G. S. Holt; B. J. Houston; P. F. de Vries; B. K. S. Alobaidi; L. E. Batty; H. Ismail; J. Greenwood; H. Sheth; A. Mikulasova; G. D. N. Astuti; C. Gilissen; K. McEleny; H. Turner; J. Coxhead; S. Cockell; D. D. M. Braat; K. Fleischer; K. W. M. D’Hauwers; E. Schaafsma; Genetics of Male Infertility Initiative (GEMINI) consortium; L. Nagirnaja; D. F. Conrad; C. Friedrich; S. Kliesch; K. I. Aston; A. Riera-Escamilla; C. Krausz; C. Gonzaga-Jauregui; M. Santibanez-Koref; D. J. Elliott; L. E. L. M. Vissers; F. Tüttelmann; M. K. O’Bryan; L. Ramos; M. J. Xavier; G. W. van der Heijden; J. A. Veltman

Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)

Cacciottolo, TM; Perikari, A; van der Klaauw, A; Henning, E; Stadler, LKJ; Keogh, J; Farooqi, IS; Tenin, G; Keavney, B; Ryan, E; Budd, R; Bewley, M; Coelho, P; Rumsey, W; Sanchez, Y; McCafferty, J; Dockrell, D; Walmsley, S; Whyte, M; Liu, Y; Choy, M-K; Abraham, S; Black, G; Ford, T; Stanley, B; Good, R; Rocchiccioli, P; McEntegart, M; Watkins, S; Eteiba, H; Shaukat, A; Lindsay, M; Robertson, K; Hood, S; McGeoch, R; McDade, R; Sidik, N; McCartney, P; Corcoran, D; Collison, D; Rush, C; McConnachie, A; Touyz, R; Oldroyd, K; Berry, Colin; Gazdagh, G; Diver, L; Marshall, J; McGowan, R; Ahmed, F; Tobias, E; Curtis, E; Parsons, C; Maslin, K; D’Angelo, S; Moon, R; Crozier, S; Gossiel, F; Bishop, N; Kennedy, S; Papageorghiou, A; Fraser, R; Gandhi, S; Prentice, A; Inskip, H; Godfrey, K; Schoenmakers, I; Javaid, MK; Eastell, R; Cooper, C; Harvey, N; Watt, ER; Howden, A; Mirchandani, A; Hukelmann, JL; Sadiku, P; Plant, TM; Cantrell, DA; Whyte, MKB; Walmsley, SR; Mordi, I; Forteath, C; Wong, A; Mohan, M; Palmer, C; Doney, A; Rena, G; Lang, C; Gray, EH; Azarian, S; Riva, A; Edwards, H; McPhail, MJW; Williams, R; Chokshi, S; Patel, VC; Edwards, LA; Page, D; Miossec, M; Williams, S; Monaghan, R; Fotiou, E; Santibanez-Koref, M; Badat, M; Mettananda, S; Hua, P; Schwessinger, R; Hughes, J; Higgs, D; Davies, J

QJM: An International Journal of Medicine. 112:724-729

Burte F; Houghton D; Lowes H; Pyle A; Nesbitt S; Yarnall A; Yu-Wai-Man P; Burn DJ; Santibanez-Koref M; Hudson G

Mov Disord

Ryan, S.L.; Matheson, E.; Grossmann, V.; Sinclair, P.; Bashton, M.; Schwab, C.; Towers, W.; Partington, M.; Elliott, A.; Minto, L.; Richardson, S.; Rahman, T.; Keavney, B.; Skinner, R.; Bown, N.; Haferlach, T.; Vandenberghe, Peter; Haferlach, C.; Santibanez-Koref, M.; Moorman, A.V.; Kohlmann, A.; Irving, J.AE.; Harrison, C.J.

Leukemia
Ryan, S L, Matheson, E, Grossmann, V, Sinclair, P, Bashton, M, Schwab, C, Towers, W, Partington, M, Elliott, A, Minto, L, Richardson, S, Rahman, T, Keavney, B, Skinner, R, Bown, N, Haferlach, T, Vandenberghe, P, Haferlach, C, Santibanez-Koref, M, Moorman, A V, Kohlmann, A, Irving, J A E & Harrison, C J 2016, 'The role of the RAS pathway in iAMP21-ALL', Leukemia, vol. 30, no. 9, pp. 1824-31. https://doi.org/10.1038/leu.2016.80

Gallon R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Holt G; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Alfailakawi W; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Husain A; Department of Pathology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.; Jones C; Department of Pathology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.; Sowter P; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Santibanez-Koref M; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Jackson MS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Burn J; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Cook S; Department of Pathology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.; Rajan N; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 7606847 Publication Model: Print Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin Exp Dermatol Subsets: MEDLINE

Redgrave RE; Tual-Chalot S; Davison BJ; Greally E; Santibanez-Koref M; Schneider JE; Blamire AM; Arthur HM

Int J Cardiol Heart Vasc
Scipedia Open Access
Scipedia SL
International Journal of Cardiology: Heart & Vasculature, Vol 11, Iss C, Pp 29-34 (2016)

Keogh MJ; Steele H; Douroudis K; Pyle A; Duff J; Hussain R; Smertenko T; Griffin H; Santibanez-Koref M; Horvath R; Chinnery PF

J Neurol

Challis RC; Ring T; Xu Y; Wong EKS; Flossmann O; Roberts ISD; Ahmed S; Wetherall M; Salkus G; Brocklebank B; Fester J; Strain L; Wilson V; Wood KM; Marchbank KJ; Santibanez-Koref M; Goodship THJ; Kavanagh D

Challis, R C, Ring, T, Xu, Y, Wong, E K S, Flossmann, O, Roberts, I S D, Ahmed, S, Wetherall, M, Salkus, G, Brocklebank, V, Fester, J, Strain, L, Wilson, V, Wood, K M, Marchbank, K J, Santibanez-Koref, M, Goodship, T H J & Kavanagh, D 2017, 'Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease', American Society of Nephrology. Journal, vol. 28, no. 4, pp. 1084-1091. https://doi.org/10.1681/ASN.2015101189
Journal of the American Society of Nephrology : JASN

Engelhardt KR; Xu Y; Grainger A; Germani Batacchi MGC; Swan DJ; Willet JDP; Abd Hamid IJ; Agyeman P; Barge D; Bibi S; Jenkins L; Flood TJ; Abinun M; Slatter MA; Gennery AR; Cant AJ; Santibanez Koref M; Gilmour K; Hambleton S

J Clin Immunol
Engelhardt, Karin R; Xu, Yaobo; Grainger, Angela; Germani Batacchi, Mila G C; Swan, David J; Willet, Joseph D P; Abd Hamid, Intan J; Agyeman, Philipp; Barge, Dawn; Bibi, Shahnaz; Jenkins, Lucy; Flood, Terence J; Abinun, Mario; Slatter, Mary A; Gennery, Andrew R; Cant, Andrew J; Santibanez Koref, Mauro; Gilmour, Kimberly; Hambleton, Sophie (2017). Identification of Heterozygous Single-and Multi-exon Deletions in IL7R by Whole Exome Sequencing. Journal of clinical immunology, 37(1), pp. 42-50. Springer 10.1007/s10875-016-0343-9

Takeda Y; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.; Hyslop L; Newcastle Fertility Centre, Biomedicine West Wing, Centre for Life, Newcastle upon Tyne, UK.; Choudhary M; Newcastle Fertility Centre, Biomedicine West Wing, Centre for Life, Newcastle upon Tyne, UK.; Robertson F; Wellcome Centre for Mitochondrial Research, Institute of Clinical Translational Research, Newcastle University, Newcastle upon Tyne, UK.; Pyle A; Wellcome Centre for Mitochondrial Research, Institute of Clinical Translational Research, Newcastle University, Newcastle upon Tyne, UK.; Wilson I; Biosciences Institute, Centre for Life, Newcastle upon Tyne, UK.; Santibanez-Koref M; Biosciences Institute, Centre for Life, Newcastle upon Tyne, UK.; Turnbull D; Wellcome Centre for Mitochondrial Research, Institute of Clinical Translational Research, Newcastle University, Newcastle upon Tyne, UK.; Herbert M; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.; Newcastle Fertility Centre, Biomedicine West Wing, Centre for Life, Newcastle upon Tyne, UK.; Department of Anatomy and Developmental Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC, Australia.; Hudson G; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: MEDLINE

Ahadova A; Witt J; Haupt S; Gallon R; Hüneburg R; Nattermann J; Ten Broeke S; Bohaumilitzky L; Hernandez-Sanchez A; Santibanez-Koref M; Jackson MS; Ahtiainen M; Pylvänäinen K; Andini K; Grolmusz VK; Möslein G; Dominguez-Valentin M; Møller P; Fürst D; Sijmons R; Borthwick GM; Burn J; Mecklin JP; Heuveline V; von Knebel Doeberitz M; Seppälä T; Kloor M

International Journal of Cancer. 152(10):2024-2031

Whittle BJ; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.; Izuogu OG; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, UK.; Lowes H; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Deen D; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Pyle A; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Coxhead J; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.; Lawson RA; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Yarnall AJ; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Jackson MS; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.; Santibanez-Koref M; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK. mauro.santibanez-koref@newcastle.ac.uk.; Hudson G; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK. gavin.hudson@ncl.ac.uk.

Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101675390 Publication Model: Electronic Cited Medium: Print ISSN: 2373-8057 (Print) Linking ISSN: 23738057 NLM ISO Abbreviation: NPJ Parkinsons Dis Subsets: PubMed not MEDLINE

Wong EKS; Anderson HE; Herbert AP; Challis RC; Brown P; Reis GS; Tellez JO; Strain L; Fluck N; Humphrey A; Macleod A; Richards A; Ahlert D; Santibanez-Koref M; Barlow PN; Marchbank KJ; Harris CL; Goodship THJ; Kavanagh D

Journal of the American Society of Nephrology : JASN

Vromman M; OncoRNALab, Cancer Research Institute Ghent (CRIG), Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Anckaert J; OncoRNALab, Cancer Research Institute Ghent (CRIG), Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Bortoluzzi S; Department of Molecular Medicine, University of Padova, Padova, Italy.; Buratin A; Department of Molecular Medicine, University of Padova, Padova, Italy.; Chen CY; Genomics Research Center, Academia Sinica, Taipei City, Taiwan.; Chu Q; Institute of Crop Science and Institute of Bioinformatics, Zhejiang University, Zhejiang, China.; Chuang TJ; Genomics Research Center, Academia Sinica, Taipei City, Taiwan.; Dehghannasiri R; Department of Biomedical Data Science and of Biochemistry, Stanford University, Stanford, CA, USA.; Dieterich C; Klaus Tschira Institute for Integrative Computational Cardiology, Department of Internal Medicine III, University Hospital Heidelberg, German Center for Cardiovascular Research (DZHK), Heidelberg, Germany.; Dong X; School of Basic Medical Science, Department of Medical Genetics, Wuhan University, Wuhan, China.; Flicek P; EMBL-EBI, Hinxton, UK.; Gaffo E; Department of Molecular Medicine, University of Padova, Padova, Italy.; Gu W; Collaborative Innovation Center of Jiangsu Province of Cancer Prevention and Treatment of Chinese Medicine, School of Artificial Intelligence and Information Technology, Nanjing University of Chinese Medicine, Nanjing, China.; He C; School of Basic Medical Science, Department of Medical Genetics, Wuhan University, Wuhan, China.; Hoffmann S; Computational Biology Group, Leibniz Institute on Aging - Fritz Lipmann Institute (FLI), Jena, Germany.; Izuogu O; EMBL-EBI, Hinxton, UK.; Jackson MS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, UK.; Jakobi T; Translational Cardiovascular Research Center, University of Arizona - College of Medicine Phoenix, Phoenix, AZ, USA.; Lai EC; Sloan Kettering Institute, New York, NY, USA.; Nuytens J; OncoRNALab, Cancer Research Institute Ghent (CRIG), Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Salzman J; Department of Biomedical Data Science and of Biochemistry, Stanford University, Stanford, CA, USA.; Santibanez-Koref M; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, UK.; Stadler P; Bioinformatics Group, Department of Computer Science, and Interdisciplinary Center for Bioinformatics, Universität Leipzig, Leipzig, Germany.; Thas O; Data Science Institute, I-Biostat, Hasselt University, Hasselt, Belgium.; Vanden Eynde E; OncoRNALab, Cancer Research Institute Ghent (CRIG), Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Verniers K; OncoRNALab, Cancer Research Institute Ghent (CRIG), Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Wen G; State Key Laboratory of Bioelectronics, School of Biological Sciences and Medical Engineering, Southeast University, Nanjing, China.; Westholm J; Department of Biochemistry and Biophysics, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Stockholm University, Stockholm, Sweden.; Yang L; Center for Molecular Medicine, Children's Hospital, Fudan University and Shanghai Key Laboratory of Medical Epigenetics, International Laboratory of Medical Epigenetics and Metabolism, Ministry of Science and Technology, Institutes of Biomedical Sciences, Fudan University, Fudan, China.; Ye CY; Institute of Crop Science and Institute of Bioinformatics, Zhejiang University, Zhejiang, China.; Yigit N; OncoRNALab, Cancer Research Institute Ghent (CRIG), Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Yuan GH; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.; Zhang J; Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing, China.; Zhao F; Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing, China.; Vandesompele J; OncoRNALab, Cancer Research Institute Ghent (CRIG), Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. jo.vandesompele@ugent.be.; Volders PJ; OncoRNALab, Cancer Research Institute Ghent (CRIG), Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.

Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101215604 Publication Model: Print Cited Medium: Internet ISSN: 1548-7105 (Electronic) Linking ISSN: 15487091 NLM ISO Abbreviation: Nat Methods Subsets: MEDLINE; PubMed not MEDLINE

Izuogu O; Alhasan AA; Mellough C; Collin J; Gallon R; Hyslop J; Mastrorosa FK; Ehrmann I; Lako M; Elliott DJ; Santibanez-Koref M; Jackson MS

BMC Genomics
BMC Genomics, Vol 19, Iss 1, Pp 1-18 (2018)

JACKSON MS; OLIVER K; LOVELAND J; HUMPHRAY S; DUNHAM I; ROCCHI, Mariano; VIGGIANO, Luigi; PARK JP; HURLES ME; SANTIBANEZ KOREF M.

The American Journal of Human Genetics. 77:824-840

Milner JD; Vogel TP; Forbes L; Ma CA; Stray-Pedersen A; Niemela JE; Lyons JJ; Engelhardt KR; Zhang Y; Topcagic N; Roberson EDO; Matthews H; Verbsky JW; Dasu T; Vargas-Hernandez A; Varghese N; McClain KL; Karam LB; Nahmod K; Makedonas G; Mace EM; Sorte HS; Perminow G; Rao VK; O'Connell MP; Price S; Su HC; Butrick M; McElwee J; Hughes JD; Willet J; Swan D; Xu Y; Santibanez-Koref M; Slowik V; Dinwiddie DL; Ciaccio CE; Saunders CJ; Septer S; Kingsmore SF; White AJ; Cant AJ; Hambleton S; Cooper MA

Blood. 125:591-599