부산대학교 도서관

Ewing, Ailith; Meynert, Alison; Churchman, Michael; Grimes, Graeme; Hollis, Robert L.; Herrington, C. Simon; Rye, Tzyvia; Bartos, Clare; Croy, Ian; Ferguson, Michelle J.; Lennie, Mairi; McGoldrick, Trevor; McPhail, Neil; Siddiqui, Nadeem; Dowson, Suzanne; Glasspool, Rosalind; Mackean, Melanie; Nussey, Fiona; McDade, Brian; Ennis, Darren; The Scottish Genomes Partnership; McMahon, Lynn; Matakidou, Athena; Dougherty, Brian A.; March, Ruth; Barrett, J. Carl; Mcneish, Iain A.; Biankin, Andrew V.; Roxburgh, Patricia; Gourley, Charlie; Semple, Colin A.

Ewing, A, Meynert, A M, Churchman, M, Grimes, G R, Hollis, R, Herrington, C S, Rye, T, Bartos, C, Croy, I, Ferguson, M, Lennie, M, McGoldrick, T, McPhail, N, Siddiqui, N, Dowson, S, Glasspool, R, MacKean, M, Nussey, F, McDade, B, Ennis, D, McMahon, L, Matakidou, A, Dougherty, B, March, R, Barrett, J C, A. McNeish, I, V. Biankin, A, Roxburgh, P & Gourley, C & Semple, C A 2021, ' Structural variants at the BRCA1/2 loci are a common source of homologous repair deficiency in high grade serous ovarian carcinoma ', Clinical Cancer Research . https://doi.org/10.1158/1078-0432.CCR-20-4068

Black HA; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; South East of Scotland Genetics Service, Western General Hospital, Edinburgh, UK.; de Proce SM; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Campos JL; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Meynert A; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Halachev M; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Marsh JA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Hirst RA; Department of Respiratory Sciences, Centre for PCD Diagnosis and Research, University of Leicester, Leicester, UK.; O'Callaghan C; Department of Respiratory Sciences, Centre for PCD Diagnosis and Research, University of Leicester, Leicester, UK.; Shoemark A; School of Medicine, Division of Molecular and Clinical Medicine, University of Dundee, Dundee, UK.; Toddie-Moore D; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Santoyo-Lopez J; Edinburgh Genomics, Edinburgh, UK.; Murray J; South East of Scotland Genetics Service, Western General Hospital, Edinburgh, UK.; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Macleod K; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Sick Children, Edinburgh, UK.; Urquhart DS; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Sick Children, Edinburgh, UK.; Department of Child Life and Health, University of Edinburgh, Edinburgh, UK.; Unger S; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Sick Children, Edinburgh, UK.; Department of Child Life and Health, University of Edinburgh, Edinburgh, UK.; Aitman TJ; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Mill P; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

Ailith Ewing; Alison Meynert; Ryan Silk; Stuart Aitken; Devin P. Bendixsen; Michael Churchman; Stuart L. Brown; Alhafidz Hamdan; Joanne Mattocks; Graeme R. Grimes; Tracy Ballinger; Robert L. Hollis; C. Simon Herrington; John P. Thomson; Kitty Sherwood; Thomas Parry; Edward Esiri-Bloom; Clare Bartos; Ian Croy; Michelle Ferguson; Mairi Lennie; Trevor McGoldrick; Neil McPhail; Nadeem Siddiqui; Rosalind Glasspool; Melanie Mackean; Fiona Nussey; Brian McDade; Darren Ennis; The Scottish Genomes Partnership; Lynn McMahon; Athena Matakidou; Brian Dougherty; Ruth March; J. Carl Barrett; Iain A. McNeish; Andrew V. Biankin; Patricia Roxburgh; Charlie Gourley; Colin A. Semple

Nature Communications, Vol 16, Iss 1, Pp 1-14 (2025)

The Scottish Genomes Partnership; Dulias, Katharina; Foody, M. George B.; Justeau, Pierre; Silva, Marina; Martiniano, Rui; Oteo-García, Gonzalo; Fichera, Alessandro; Rodrigues, Simão; Gandini, Francesca; Meynert, Alison; Donnelly, Kevin; Aitman, Timothy J.; Chamberlain, Andrew; Lelong, Olivia; Kozikowski, George; Powlesland, Dominic; Waddington, Clive; Mattiangeli, Valeria; Bradley, Daniel G.; Bryk, Jaroslaw; Soares, Pedro; Wilson, James F.; Wilson, Graeme; Moore, Hazel; Pala, Maria; Edwards, Ceiridwen J.; Richards, Martin B.

Proceedings of the National Academy of Sciences of the United States of America, 2022 Feb . 119(8), 1-10.

Tess D. Pottinger; Joshua E. Motelow; Gundula Povysil; Cristiane A. Martins Moreno; Zhong Ren; Hemali Phatnani; The New York Genome Center ALS Sequencing Consortium; Timothy J. Aitman; Javier Santoyo-Lopez; Scottish Genomes Partnership; Hiroshi Mitsumoto; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; David B. Goldstein; Matthew B. Harms

BMC Genomics, Vol 25, Iss 1, Pp 1-11 (2024)

Mena Report. July 18, 2018

Nature Biotechnology. February, 2015, Vol. 33 Issue 2, p121, 1 p.

Hocking, Lynne; Andrews, Claire; Armstrong, Christine; Ansari, Morad; Baty, David; Berg, Jonathan; Bradley, Therese; Clark, Caroline; Diamond, Austin; Doherty, Jill; Lampe, Anne; McGowan, Ruth; Moore, David; O'Sullivan, Dawn; Purvis, Andrew; Santoyo-Lopez, Javier; Westwood, Paul; Abbott, Michael; Williams, Nicola J.; Scottish Genomes Partnership, Zosia; Aitman, Timothy; Miedzybrodzka, Zosia

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 6 2022, 8p.

Cooke, Susanna L.; Ennis, Darren; Evers, Lisa; Dowson, Suzanne; Chan, Mei Yen; Paul, James; Hirschowitz, Lynn; Glasspool, Rosalind; Singh, Naveena; Bell, Sarah; Day, Elizabeth K.; Kochman, Agata; Wilkinson, Nafisa; Beer, Philip; Martin, Sancha; Millan, David W.; Biankin, Andrew V.; McNeish, Iain A.

Clinical Cancer Research. 23:7633-7640

Greenfield, Andy; Herzyk, Pawel; Lucas-Herald, Angela K; McGowan, Ruth; SGP, Scottish Genomes Partnership; Touyz, Rhian M; Williams, Nicola; Tobias, Edward S; Sagar, Danielle; Montezano, Augusto C; Rios, Francisco J; de Lucca Camargo, Livia; Hamilton, Graham; Gazdagh, Gabriella

J Endocr Soc

Dodd, Daniel O.; Mechaussier, Sabrina; Yeyati, Patricia L.; McPhie, Fraser; Anderson, Jacob R.; Khoo, Chen Jing; Shoemark, Amelia; Gupta, Deepesh K.; Attard, Thomas; Zariwala, Maimoona A.; Legendre, Marie; Bracht, Diana; Wallmeier, Julia; Gui, Miao; Fassad, Mahmoud R.; Parry, David A.; Tennant, Peter A.; Meynert, Alison; Wheway, Gabrielle; Fares-Taie, Lucas; Black, Holly A.; Mitri-Frangieh, Rana; Faucon, Catherine; Kaplan, Josseline; Patel, Mitali; McKie, Lisa; Megaw, Roly; Gatsogiannis, Christos; Mohamed, Mai A.; Aitken, Stuart; Gautier, Philippe; Reinholt, Finn R.; Hirst, Robert A.; O'Callaghan, Chris; Heimdal, Ketil; Bottier, Mathieu; Escudier, Estelle; Crowley, Suzanne; Descartes, Maria; Jabs, Ethylin W.; Kenia, Priti; Amiel, Jeanne; Bacci, Giacomo Maria; Calogero, Claudia; Palazzo, Viviana; Tiberi, Lucia; Bluemlein, Ulrike; Rogers, Andrew; Wambach, Jennifer A.; Wegner, Daniel J.; Fulton, Anne B.; Kenna, Margaret; Rosenfeld, Margaret; Holm, Ingrid A.; Quigley, Alan; Hall, Emma A.; Murphy, Laura C.; Cassidy, Diane M.; von Kriegsheim, Alex; Papon, Jean-Francois; Pasquier, Laurent; Murris, Marlene S.; Chalmers, James D.; Hogg, Claire; Macleod, Kenneth A.; Urquhart, Don S.; Unger, Stefan; Aitman, Timothy J.; Amselem, Serge; Leigh, Margaret W.; Knowles, Michael R.; Omran, Heymut; Mitchison, Hannah M.; Brown, Alan; Marsh, Joseph A.; Welburn, Julie P. I.; Ti, Shih-Chieh; Horani, Amjad; Rozet, Jean-Michel; Perrault, Isabelle; Mill, Pleasantine; Scottish Genomes Partnership; Genomics England Res Consortium; Undiagnosed Dis Network

SCIENCE; APR 26 2024, 384 6694, peadf5489 21p.

Prasun Dutta; Alistair T. Pagnamenta; Christelle Robert; Anthony E. F. McGuigan; Alison Ross; Edward S. Tobias; Ruth McGowan; Morad Ansari; David Baty; Jonathan Berg; Therese Bradley; Vera Cerqueira; Austin Diamond; Mihail Halachev; Anne Lampe; Alison Meynert; Caitlin Newman; Marian Thomson; Urmi Trivedi; Nicola Williams; Jing Yu; Javier Santoyo-Lopez; Zosia Miedzybrodzka; Jenny C. Taylor; Timothy J. Aitman

Dulias K; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom.; Department of Archaeology, University of York, York YO10 5DD, United Kingdom.; Institut für Geosysteme und Bioindikation, Technische Universität Braunschweig 38106 Braunschweig, Germany.; Foody MGB; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom.; Justeau P; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom.; Silva M; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom.; Martiniano R; School of Biological and Environmental Sciences, Faculty of Science, Liverpool John Moores University, Liverpool L3 3AF, United Kingdom.; Oteo-García G; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom.; Fichera A; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom.; Rodrigues S; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom.; Gandini F; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom.; Meynert A; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Donnelly K; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Aitman TJ; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Chamberlain A; Department of Earth and Environmental Sciences, The University of Manchester, Manchester M13 9PL, United Kingdom.; Lelong O; Department of Research, Business and Innovation, University of West England, Bristol, BS16 1QY, United Kingdom.; Kozikowski G; Private address, Broadford, Isle of Skye IV49 9BB, United Kingdom.; Powlesland D; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom.; The Landscape Research Centre Ltd, Malton YO17 8SL, United Kingdom.; Waddington C; Archaeological Research Services Ltd, Bakewell DE45 1HB, United Kingdom.; Mattiangeli V; Smurfit Institute of Genetics, Trinity College Dublin, Dublin D02 VF25, Ireland.; Bradley DG; Smurfit Institute of Genetics, Trinity College Dublin, Dublin D02 VF25, Ireland.; Bryk J; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom.; Soares P; Centre of Molecular and Environmental Biology, Department of Biology, University of Minho 4710-057 Braga, Portugal.; Wilson JF; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Centre for Global Health Research, Usher Institute, University of Edinburgh, Edinburgh EH8 9AG, United Kingdom.; Wilson G; Environment and Archaeology Services, Midbea Schoolhouse, Westray, Orkney KW17 2DP, United Kingdom.; Moore H; Environment and Archaeology Services, Midbea Schoolhouse, Westray, Orkney KW17 2DP, United Kingdom.; Pala M; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom.; Edwards CJ; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom; c.j.edwards@hud.ac.uk m.b.richards@hud.ac.uk.; Richards MB; Department of Biological and Geographical Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom; c.j.edwards@hud.ac.uk m.b.richards@hud.ac.uk.

Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

Ho, Gwo Yaw; Kyran, Elizabeth L.; Bedo, Justin; Wakefield, Matthew J.; Ennis, Darren P.; Mirza, Hasan B.; Vandenberg, Cassandra J.; Lieschke, Elizabeth; Farrell, Andrew; Hadla, Anthony; Lim, Ratana; Dall, Genevieve; Vince, James E.; Chua, Ngee Kiat; Kondrashova, Olga; Upstill-Goddard, Rosanna; Bailey, Ulla-Maja; Dowson, Suzanne; Roxburgh, Patricia; Glasspool, Rosalind M.; Bryson, Gareth; Biankin, Andrew V.; Cooke, Susanna L.; Ratnayake, Gayanie; McNally, Orla; Traficante, Nadia; DeFazio, Anna; Weroha, S. John; Bowtell, David D.; McNeish, Iain A.; Papenfuss, Anthony T.; Scott, Clare L.; Barker, Holly E.; Scottish Genomes Partnership; Australian Ovarian Canc Study

CANCER RESEARCH; DEC 1 2022, 82 23, p4457-p4473, 17p.

Pottinger TD; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, United States of America.; Department of Internal Medicine, Columbia University Irving Medical Center, New York, New York, United States of America.; Motelow JE; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, United States of America.; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, United States of America.; Povysil G; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, United States of America.; Moreno CAM; Department of Neurology, School of Medicine, Universidade de São Paulo, São Paul, Brazil.; Ren Z; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, United States of America.; Phatnani H; Department of Neurology, Columbia University Irving Medical Center, New York, New York, United States of America.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, New York, United States of America.; New York Genome Center, New York, New York, United States of America.; Aitman TJ; Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, Scotland.; Santoyo-Lopez J; Edinburgh Genomics, University of Edinburgh, Edinburgh, Scotland.; Mitsumoto H; Department of Neurology, Columbia University Irving Medical Center, New York, New York, United States of America.; Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, United States of America.; Harms MB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, United States of America.; Department of Neurology, Columbia University Irving Medical Center, New York, New York, United States of America.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, New York, United States of America.

Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

Parry, David A.; Tamayo-Orrego, Lukas; Carroll, Paula; Marsh, Joseph A.; Greene, Philip; Murina, Olga; Uggenti, Carolina; Leitch, Andrea; Kaposzta, Rita; Mero, Gabriella; Nagy, Andrea; Orlik, Brigitta; Kovacs-Paszthy, Balazs; Quigley, Alan J.; Riszter, Magdolna; Rankin, Julia; Reijns, Martin A. M.; Szakszon, Katalin; Jackson, Andrew P.; Scottish Genomes Partnership

GENES & DEVELOPMENT; NOV 1 2020, 34 21-22, p1520-p1533, 14p.

Twesigomwe D; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of The Witwatersrand, Johannesburg, South Africa.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Aitman TJ; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Crewe Road South, Edinburgh, EH4 2XU, UK.; Wilson JF; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Crewe Road South, Edinburgh, EH4 2XU, UK. Jim.Wilson@ed.ac.uk.; Centre for Global Health Research, Usher Institute, University of Edinburgh, Usher Building, 5-7 Little France Road, Edinburgh BioQuarter, Edinburgh, EH16 4UX, UK. Jim.Wilson@ed.ac.uk.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Abbott M; Health Economics Research Unit, University of Aberdeen, Aberdeen, UK. michael.abbott@abdn.ac.uk.; McKenzie L; Health Economics Research Unit, University of Aberdeen, Aberdeen, UK.; Moran BVG; Health Economics Research Unit, University of Aberdeen, Aberdeen, UK.; Heidenreich S; Health Economics Research Unit, University of Aberdeen, Aberdeen, UK.; Evidera Inc., London, UK.; Hernández R; Health Economics Research Unit, University of Aberdeen, Aberdeen, UK.; Hocking-Mennie L; Department of Medical Genetics, University of Aberdeen, Aberdeen, UK.; Clark C; Department of Medical Genetics, University of Aberdeen, Aberdeen, UK.; NHS Grampian Regional Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK.; Gomes J; NHS Grampian Regional Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK.; Lampe A; South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, UK.; Baty D; NHS Tayside Regional Genetics Service, Ninewells Hospital, Dundee, UK.; McGowan R; South East Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; Miedzybrodzka Z; Evidera Inc., London, UK.; Ryan M; Health Economics Research Unit, University of Aberdeen, Aberdeen, UK.

Publisher: Springer Country of Publication: Germany NLM ID: 101551501 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1868-310X (Print) Linking ISSN: 1868310X NLM ISO Abbreviation: J Community Genet Subsets: PubMed not MEDLINE

Kennedy Lushasi; Kirstyn Brunker; Malavika Rajeev; Elaine A Ferguson; Gurdeep Jaswant; Laurie Louise Baker; Roman Biek; Joel Changalucha; Sarah Cleaveland; Anna Czupryna; Anthony R Fooks; Nicodemus J Govella; Daniel T Haydon; Paul CD Johnson; Rudovick Kazwala; Tiziana Lembo; Denise Marston; Msanif Masoud; Matthew Maziku; Eberhard Mbunda; Geofrey Mchau; Ally Z Mohamed; Emmanuel Mpolya; Chanasa Ngeleja; Kija Ng'habi; Hezron Nonga; Kassim Omar; Kristyna Rysava; Maganga Sambo; Lwitiko Sikana; Rachel Steenson; Katie Hampson

eLife, Vol 12 (2023)

Ennis, Darren; Cooke, Susanna L.; Evers, Lisa; Dowson, Suzanne; Chan, Mei Yen; Paul, James; Hirschowitz, Lynn; Glasspool, Rosalind; Singh, Naveena; Bell, Sarah; Day, Elizabeth; Kochman, Agata; Wilkinson, Nafisa; Beer, Philip; Martin, Sancha; Millan, David; Biankin, Andrew V.; McNeish, Iain A.; Scottish Genomes Partnership

CLINICAL CANCER RESEARCH; AUG 2018, 24 15, p34-p35, 2p. Supplement: S