부산대학교 도서관

Koshy, Cherian; Ash, Amy; Wise, Emma; Moore, Nathan; Mori, Matilde; Cortes, Nick; Lynch, Jessica; Kidd, Stephen; Fairley, Derek J; Curran, Tanya; McKenna, James P; Adams, Helen; Fraser, Christophe; Golubchik, Tanya; Bonsall, David; Hassan-Ibrahim, Mohammed O; Malone, Cassandra S; Cogger, Benjamin J; Wantoch, Michelle; Reynolds, Nicola; Warne, Ben; Maksimovic, Joshua; Spellman, Karla; McCluggage, Kathryn; John, Michaela; Beer, Robert; Afifi, Safiah; Morgan, Sian; Marchbank, Angela; Price, Anna; Kitchen, Christine; Gulliver, Huw; Merrick, Ian; Southgate, Joel; Guest, Martyn; Munn, Robert; Workman, Trudy; Connor, Thomas R; Fuller, William; Bresner, Catherine; Snell, Luke B; Patel, Amita; Charalampous, Themoula; Nebbia, Gaia; Batra, Rahul; Edgeworth, Jonathan; Robson, Samuel C; Beckett, Angela H; Aanensen, David M; Underwood, Anthony P; Yeats, Corin A; Abudahab, Khalil; Taylor, Ben EW; Menegazzo, Mirko; Clark, Gemma; Smith, Wendy; Khakh, Manjinder; Fleming, Vicki M; Lister, Michelle M; Howson-Wells, Hannah C; Berry, Louise; Boswell, Tim; Joseph, Amelia; Willingham, Iona; Jones, Carl; Holmes, Christopher; Bird, Paul; Helmer, Thomas; Fallon, Karlie; Tang, Julian; Raviprakash, Veena; Campbell, Sharon; Sheriff, Nicola; Blakey, Victoria; Williams, Lesley-Anne; Loose, Matthew W; Holmes, Nadine; Moore, Christopher; Carlile, Matthew; Wright, Victoria; Sang, Fei; Debebe, Johnny; Coll, Francesc; Signell, Adrian W; Betancor, Gilberto; Wilson, Harry D; Eldirdiri, Sahar; Kenyon, Anita; Davis, Thomas; Pybus, Oliver G; du Plessis, Louis; Zarebski, Alex E; Raghwani, Jayna; Kraemer, Moritz UG; Francois, Sarah; Attwood, Stephen W; Vasylyeva, Tetyana I; Escalera Zamudio, Marina; Gutierrez, Bernardo; Torok, M. Estee; Hamilton, William L; Goodfellow, Ian G; Hall, Grant; Jahun, Aminu S; Chaudhry, Yasmin; Hosmillo, Myra; Pinckert, Malte L; Georgana, Iliana; Moses, Samuel; Lowe, Hannah; Bedford, Luke; Moore, Jonathan; Stonehouse, Susanne; Fisher, Chloe L; Awan, Ali R; BoYes, John; Breuer, Judith; Harris, Kathryn Ann; Brown, Julianne Rose; Shah, Divya; Atkinson, Laura; Lee, Jack CD; Storey, Nathaniel; Flaviani, Flavia; Alcolea-Medina, Adela; Williams, Rebecca; Vernet, Gabrielle; Chapman, Michael R; Levett, Lisa J; Heaney, Judith; Chatterton, Wendy; Pusok, Monika; Xu-McCrae, Li; Smith, Darren L; Bashton, Matthew; Young, Gregory R; Holmes, Alison; Randell, Paul Anthony; Cox, Alison; Madona, Pinglawathee; Bolt, Frances; Price, James; Mookerjee, Siddharth; Ragonnet-Cronin, Manon; Nascimento, Fabricia F.; Jorgensen, David; Siveroni, Igor; Johnson, Rob; Boyd, Olivia; Geidelberg, Lily; Volz, Erik M; Rowan, Aileen; Taylor, Graham P; Smollett, Katherine L; Loman, Nicholas J; Quick, Joshua; McMurray, Claire; Stockton, Joanne; Nicholls, Sam; Rowe, Will; Poplawski, Radoslaw; McNally, Alan; Martinez Nunez, Rocio T; Mason, Jenifer; Robinson, Trevor I; O'Toole, Elaine; Watts, Joanne; Breen, Cassie; Cowell, Angela; Sluga, Graciela; Machin, Nicholas W; Ahmad, Shazaad S Y; George, Ryan P; Halstead, Fenella; Sivaprakasam, Venkat; Hogsden, Wendy; Illingworth, Chris J; Jackson, Chris; Thomson, Emma C; Shepherd, James G; Asamaphan, Patawee; Niebel, Marc O; Li, Kathy K; Shah, Rajiv N; Jesudason, Natasha G; Tong, Lily; Broos, Alice; Mair, Daniel; Nichols, Jenna; Carmichael, Stephen N; Nomikou, Kyriaki; Aranday-Cortes, Elihu; Johnson, Natasha; Starinskij, Igor; da Silva Filipe, Ana; Robertson, David L; Orton, Richard J; Hughes, Joseph; Vattipally, Sreenu; Singer, Joshua B; Nickbakhsh, Seema; Hale, Antony D; Macfarlane-Smith, Louissa R; Harper, Katherine L; Carden, Holli; Taha, Yusri; Payne, Brendan AI; Burton-Fanning, Shirelle; Waugh, Sheila; Collins, Jennifer; Eltringham, Gary; Rushton, Steven; O'Brien, Sarah; Bradley, Amanda; Maclean, Alasdair; Mollett, Guy; Blacow, Rachel; Templeton, Kate E; McHugh, Martin P; Dewar, Rebecca; Wastenge, Elizabeth; Dervisevic, Samir; Stanley, Rachael; Meader, Emma J; Coupland, Lindsay; Smith, Louise; Graham, Clive; Barton, Edward; Padgett, Debra; Scott, Garren; Swindells, Emma; Greenaway, Jane; Nelson, Andrew; McCann, Clare M; Yew, Wen C; Andersson, Monique; Peto, Timothy; Justice, Anita; Eyre, David; Crook, Derrick; Sloan, Tim J; Duckworth, Nichola; Walsh, Sarah; Chauhan, Anoop J; Glaysher, Sharon; Bicknell, Kelly; Wyllie, Sarah; Elliott, Scott; Lloyd, Allyson; Impey, Robert; Levene, Nick; Monaghan, Lynn; Bradley, Declan T; Wyatt, Tim; Allara, Elias; Pearson, Clare; Osman, Husam; Bosworth, Andrew; Robinson, Esther; Muir, Peter; Vipond, Ian B; Hopes, Richard; Pymont, Hannah M; Hutchings, Stephanie; Curran, Martin D; Parmar, Surendra; Lackenby, Angie; Mbisa, Tamyo; Platt, Steven; Miah, Shahjahan; Bibby, David; Manso, Carmen; Hubb, Jonathan; Chand, Meera; Dabrera, Gavin; Ramsay, Mary; Bradshaw, Daniel; Thornton, Alicia; Myers, Richard; Schaefer, Ulf; Groves, Natalie; Gallagher, Eileen; Lee, David; Williams, David; Ellaby, Nicholas; Harrison, Ian; Hartman, Hassan; Manesis, Nikos; Patel, Vineet; Bishop, Chloe; Chalker, Vicki; Ledesma, Juan; Twohig, Katherine A; Holden, Matthew T.G.; Shaaban, Sharif; Birchley, Alec; Adams, Alexander; Davies, Alisha; Gaskin, Amy; Plimmer, Amy; Gatica-Wilcox, Bree; McKerr, Caoimhe; Moore, Catherine; Williams, Chris; Heyburn, David; De Lacy, Elen; Hilvers, Ember; Downing, Fatima; Shankar, Giri; Jones, Hannah; Asad, Hibo; Coombes, Jason; Watkins, Joanne; Evans, Johnathan M; Fina, Laia; Gifford, Laura; Gilbert, Lauren; Graham, Lee; Perry, Malorie; Morgan, Mari; Bull, Matthew; Cronin, Michelle; Pacchiarini, Nicole; Craine, Noel; Jones, Rachel; Howe, Robin; Corden, Sally; Rey, Sara; Kumziene-SummerhaYes, Sara; Taylor, Sarah; Cottrell, Simon; Jones, Sophie; Edwards, Sue; O'Grady, Justin; Page, Andrew J; Mather, Alison E; Baker, David J; Rudder, Steven; Aydin, Alp; Kay, Gemma L; Trotter, Alexander J; Alikhan, Nabil-Fareed; de Oliveira Martins, Leonardo; Le-Viet, Thanh; Meadows, Lizzie; Casey, Anna; Ratcliffe, Liz; Simpson, David A; Molnar, Zoltan; Thompson, Thomas; Acheson, Erwan; Masoli, Jane AH; Knight, Bridget A; Ellard, Sian; Auckland, Cressida; Jones, Christopher R; Mahungu, Tabitha W; Irish-Tavares, Dianne; Haque, Tanzina; Hart, Jennifer; Witele, Eric; Fenton, Melisa Louise; Dadrah, Ashok; Symmonds, Amanda; Saluja, Tranprit; Bourgeois, Yann; Scarlett, Garry P; Loveson, Katie F; Goudarzi, Salman; Fearn, Christopher; Cook, Kate; Dent, Hannah; Paul, Hannah; Partridge, David G; Raza, Mohammad; Evans, Cariad; Johnson, Kate; Liggett, Steven; Baker, Paul; Bonner, Stephen; Essex, Sarah; Lyons, Ronan A; Saeed, Kordo; Mahanama, Adhyana I.K; Samaraweera, Buddhini; Silveira, Siona; Pelosi, Emanuela; Wilson-Davies, Eleri; Williams, Rachel J; Kristiansen, Mark; Roy, Sunando; Williams, Charlotte A; Cotic, Marius; Bayzid, Nadua; Westhorpe, Adam P; Hartley, John A; Jannoo, Riaz; Lowe, Helen L; Karamani, Angeliki; Ensell, Leah; Prieto, Jacqui A; Jeremiah, Sarah; Grammatopoulos, Dimitris; Pandey, Sarojini; Berry, Lisa; Jones, Katie; Richter, Alex; Beggs, Andrew; Best, Angus; Percival, Benita; Mirza, Jeremy; Megram, Oliver; Mayhew, Megan; Crawford, Liam; Ashcroft, Fiona; Moles-Garcia, Emma; Cumley, Nicola; Smith, Colin P; Bucca, Giselda; Hesketh, Andrew R; Blane, Beth; Girgis, Sophia T; Leek, Danielle; Sridhar, Sushmita; Forrest, Sally; Cormie, Claire; Gill, Harmeet K; Dias, Joana; Higginson, Ellen E; Maes, Mailis; Young, Jamie; Kermack, Leanne M; Gupta, Ravi Kumar; Ludden, Catherine; Peacock, Sharon J; Palmer, Sophie; Churcher, Carol M; Hadjirin, Nazreen F; Carabelli, Alessandro M; Brooks, Ellena; Smith, Kim S; Galai, Katerina; McManus, Georgina M; Ruis, Chris; Davidson, Rose K; Rambaut, Andrew; Williams, Thomas; Balcazar, Carlos E; Gallagher, Michael D; O'Toole, Áine; Rooke, Stefan; Hill, Verity; Williamson, Kathleen A; Stanton, Thomas D; Michell, Stephen L; Bewshea, Claire M; Temperton, Ben; Michelsen, Michelle L; Warwick-Dugdale, Joanna; Manley, Robin; Farbos, Audrey; Harrison, James W; Sambles, Christine M; Studholme, David J; Jeffries, Aaron R; Darby, Alistair C; Hiscox, Julian A; Paterson, Steve; Iturriza-Gomara, Miren; Jackson, Kathryn A; Lucaci, Anita O; Vamos, Edith E; Hughes, Margaret; Rainbow, Lucille; Eccles, Richard; Nelson, Charlotte; Whitehead, Mark; Turtle, Lance; Haldenby, Sam T; Gregory, Richard; Gemmell, Matthew; Wierzbicki, Claudia; Webster, Hermione J; de Silva, Thushan I; Smith, Nikki; Angyal, Adrienn; Lindsey, Benjamin B; Groves, Danielle C; Green, Luke R; Wang, Dennis; Freeman, Timothy M; Parker, Matthew D; Keeley, Alexander J; Parsons, Paul J; Tucker, Rachel M; Brown, Rebecca; Wyles, Matthew; Whiteley, Max; Zhang, Peijun; Gallis, Marta; Louka, Stavroula F; Constantinidou, Chrystala; Unnikrishnan, Meera; Ott, Sascha; Cheng, Jeffrey K.J.; Bridgewater, Hannah E.; Frost, Lucy R.; Taylor-Joyce, Grace; Stark, Richard; Baxter, Laura; Alam, Mohammad T.; Brown, Paul E; Aggarwal, Dinesh; Cerda, Alberto C; Merrill, Tammy V; Wilson, Rebekah E; McClure, Patrick C; Chappell, Joseph G; Tsoleridis, Theocharis; Ball, Jonathan; Buck, David; Todd, John A; Green, Angie; Trebes, Amy; MacIntyre-Cockett, George; de Cesare, Mariateresa; Alderton, Alex; Amato, Roberto; Ariani, Cristina V; Beale, Mathew A; Beaver, Charlotte; Bellis, Katherine L; Betteridge, Emma; Bonfield, James; Danesh, John; Dorman, Matthew J; Drury, Eleanor; Farr, Ben W; Foulser, Luke; Goncalves, Sonia; Goodwin, Scott; Gourtovaia, Marina; Harrison, Ewan M; Jackson, David K; Jamrozy, Dorota; Johnston, Ian; Kane, Leanne; Kay, Sally; Keatley, Jon-Paul; Kwiatkowski, Dominic; Langford, Cordelia F; Lawniczak, Mara; Letchford, Laura; Livett, Rich; Lo, Stephanie; Martincorena, Inigo; McGuigan, Samantha; Nelson, Rachel; Palmer, Steve; Park, Naomi 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In The Lancet Public Health May 2021 6(5):e335-e345

Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A; Bengani, Hemant; Plummer, Lacey; Jones, Takako I; Erdin, Serkan; Williamson, Kathleen A; Rainger, Joe; Stortchevoi, Alexei; Samocha, Kaitlin; Currall, Benjamin B; Dunican, Donncha S; Collins, Ryan L; Willer, Jason R; Lek, Angela; Lek, Monkol; Nassan, Malik; Pereira, Shahrin; Kammin, Tammy; Lucente, Diane; Silva, Alexandra; Seabra, Catarina M; Chiang, Colby; An, Yu; Ansari, Morad; Rainger, Jacqueline K; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F; Singh, Sylvia S; Patel, Nirav; Jing, Jenny W; Law, Jennifer R; Ferraro, Nalton; Verloes, Alain; Rauch, Anita; Steindl, Katharina; Zweier, Markus; Scheer, Ianina; Sato, Daisuke; Okamoto, Nobuhiko; Jacobsen, Christina; Tryggestad, Jeanie; Chernausek, Steven; Schimmenti, Lisa A; Brasseur, Benjamin; Cesaretti, Claudia; García-Ortiz, Jose E; Buitrago, Tatiana Pineda; Silva, Orlando Perez; Hoffman, Jodi D; Mühlbauer, Wolfgang; Ruprecht, Klaus W; Loeys, Bart L; Shino, Masato; Kaindl, Angela M; Cho, Chie-Hee; Morton, Cynthia C; Meehan, Richard R; van Heyningen, Veronica; Liao, Eric C; Balasubramanian, Ravikumar; Hall, Janet E; Seminara, Stephanie B; Macarthur, Daniel; Moore, Steven A; Yoshiura, Koh-ichiro; Gusella, James F; Marsh, Joseph A; Graham, John M, Jr; Lin, Angela E; Katsanis, Nicholas; Jones, Peter L; Crowley, William F, Jr; Davis, Erica E; FitzPatrick, David R; Talkowski, Michael E

Nature Genetics. February, 2017, Vol. 49 Issue 2, p238, 11 p.

Williamson, Kathleen A; Hall, H Nikki; Owen, Liusaidh J; Livesey, Benjamin J; Hanson, Isabel M; Adams, G G W; Bodek, Simon; Calvas, Patrick; Castle, Bruce; Clarke, Michael; Deng, Alexander T; Edery, Patrick; Fisher, Richard; Gillessen-Kaesbach, Gabriele; Heon, Elise; Hurst, Jane; Josifova, Dragana; Lorenz, Birgit; McKee, Shane; Meire, Francoise; Moore, Anthony T; Parker, Michael; Reiff, Charlotte M; Self, Jay; Tobias, Edward S; Verheij, Joke B G M; Willems, Marjolaine; Williams, Denise; van Heyningen, Veronica; Marsh, Joseph A; FitzPatrick, David R

Genet Med
Genetics in medicine
Williamson, K, Hall, H N, Owen, L, Livesey, B, Hanson, I, Adams, G G W, Bodek, S, Calvas, P, Castle, B, Clarke, M, Deng, A T, Edery, P, Fisher, R, Gillessen-Kaesbach, G, Héon, E, Hurst, J, Josifova, D, Lorenz, B, McKee, S, Meire, F, Moore, A T, Parker, M, Reiff, C, Self, J, Tobias, E S, Verheij, J B G M, Willems, M, Williams, D, Van Heyningen, V, Marsh, J A & FitzPatrick, D R 2019, ' Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0685-9

Rainger, Joe; Williamson, Kathleen A; Soares, Dinesh C; Truch, Julia; Kurian, Dominic; Gillessen‐Kaesbach, Gabriele; Seawright, Anne; Prendergast, James; Halachev, Mihail; Wheeler, Ann; McTeir, Lynn; Gill, Andrew C; Heyningen, Veronica; Davey, Megan G; FitzPatrick, David R

Human Mutation; Aug2017, Vol. 38 Issue 8, p942-946, 5p

Hall HN; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK nikki.hall@ed.ac.uk.; Parry D; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Illumina United Kingdom, Edinburgh, UK.; Halachev M; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Williamson KA; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Donnelly K; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Campos Parada J; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Bhatia S; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Joseph J; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.; Holden S; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK.; Prescott TE; Department of Medical Genetics, Telemark Hospital, Skien, Norway.; Bitoun P; Consultations de Génétique médicale, Service de Pédiatrie, CHU Paris-Nord, Hôpital Jean Verdier, Bondy, France.; Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.; Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.; Lachlan K; University Hospital Southampton, NHS Foundation Trust Wessex Clinical Genetics Service, Southampton, UK.; Bernar J; Department of Genetics, Hospital Ruber Internacional, Madrid, Spain.; van Heyningen V; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.; Institute of Ophthalmology, University College London, London, UK.; FitzPatrick DR; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Meynert A; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

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Liu, C, Widen, S, Williamson, K, Ratnapriya, R, Gerth-Kahlert, C, Rainger, J, Alur, R, Strachan, E, Manjanath, S, Balakrishnan, A, Floyd, J, Li, T, Waskiewicz, A, Brooks, B, Lehmann, O J & FitzPatrick, D & Swaroop, A 2016, ' A Secreted WNT-Ligand Binding Domain of FZD5 Generated by a Frameshift Mutation Causes Autosomal Dominant Coloboma ', Human Molecular Genetics . https://doi.org/10.1093/hmg/ddw020

Delaney, Angela; Volochayev, Rita; Meader, Brooke; Lee, Janice; Almpani, Konstantinia; Noukelak, Germaine Y; Henkind, Jennifer; Chalmers, Laura; Law, Jennifer R; Williamson, Kathleen A; Jacobsen, Christina M; Buitrago, Tatiana Pineda; Perez, Orlando; Cho, Chie-Hee; Kaindl, Angela; Rauch, Anita; Steindl, Katharina; Garcia, Jose Elias; Russell, Bianca E; Prasad, Rameshwar; Mondal, Uttam K; Reigstad, Hallvard M; Clements, Scott; Kim, Susan; Inoue, Kaoru; Arora, Gazal; Salnikov, Kathryn B; DiOrio, Nicole P; Prada, Rolando; Capri, Yline; et al

Hall HN; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK. nikki.hall@ed.ac.uk.; Williamson KA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.; FitzPatrick DR; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Williamson, Kathleen A; Rainger, Joe; Floyd, James AB; Ansari, Morad; Meynert, Alison; Aldridge, Kishan V; Rainger, Jacqueline K; Anderson, Carl A; Moore, Anthony T; Hurles, Matthew E; Clarke, Angus; van Heyningen, Veronica; Verloes, Alain; Taylor, Martin S; Wilkie, Andrew OM; Consortium, UK10K; FitzPatrick, David R

American Journal of Human Genetics, vol 94, iss 2

Alison, Jennifer A; McKeough, Zoe J; Jenkins, Sue C; Holland, Anne E; Hill, Kylie; Morris, Norman R; Leung, Regina WM; Williamson, Kathleen A; Spencer, Lissa M; Hill, Catherine J; Lee, Annemarie L; Seale, Helen; Cecins, Nola; McDonald, Christine F

BMC Pulmonary Medicine. February 4, 2016, Vol. 16 Issue 25

De Silva D; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, 8, Sri Lanka.; Williamson KA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.; Dayasiri KC; Professorial Paediatric Unit, Lady Ridgeway Hospital for Children, Colombo, 08, Sri Lanka.; Suraweera N; Professorial Paediatric Unit, Lady Ridgeway Hospital for Children, Colombo, 08, Sri Lanka.; Quinters V; Professorial Paediatric Unit, Lady Ridgeway Hospital for Children, Colombo, 08, Sri Lanka.; Abeysekara H; Department of Ophthalmology, Lady Ridgeway Hospital for Children, Colombo, 08, Sri Lanka.; Wanigasinghe J; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, 8, Sri Lanka.; De Silva D; Department of Physiology, Faculty of Medicine, University of Kelaniya, Kelaniya, Sri Lanka. deepthid@kln.ac.lk.; De Silva H; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, 8, Sri Lanka.

Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A; Bengani, Hemant; Plummer, Lacey; Jones, Takako I; Erdin, Serkan; Williamson, Kathleen A; Rainger, Joe; Stortchevoi, Alexei; Samocha, Kaitlin; Currall, Benjamin B; Dunican, Donncha S; Collins, Ryan L; Willer, Jason R; Lek, Angela; Lek, Monkol; Nassan, Malik; Pereira, Shahrin; Kammin, Tammy; Lucente, Diane; Silva, Alexandra; Seabra, Catarina M; Chiang, Colby; An, Yu; Ansari, Morad; Rainger, Jacqueline K; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F; et al

Gorman KM; Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland. kathleen.gorman@cuh.ie.; Lynch SA; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 1, Ireland.; Clinical Genetics, Temple Street Children's University Hospital, Dublin 1, Ireland.; Schneider A; Genetics Division, Einstein Medical Center, Philadelphia, Pennsylvania.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.; Williamson KA; Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; FitzPatrick DR; Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom. david.fitzpatrick@ed.ac.uk.; King MD; Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 1, Ireland.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Ansari M; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Rainger J; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Hanson IM; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Williamson KA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Sharkey F; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Harewood L; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Sandilands A; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Clayton-Smith J; Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, United Kingdom.; Dollfus H; Service de Génétique Médicale, Hôpital de Haute-Pierre, Strasbourg, France.; Bitoun P; Medical Genetics Departments, University Hospital Jean Verdier, Bondy, France.; Meire F; Department of ophthalmopediatrics, Hôpital Universitaire des Enfants Reine Fabiola, Bruxelles, Belgium.; Fantes J; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Franco B; Medical Genetics, Department of Medical Translational Sciences, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Lorenz B; Department of Ophthalmology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen and Marburg UKGM, Giessen, Germany.; Taylor DS; Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom.; Stewart F; Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, United Kingdom.; Willoughby CE; Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, United Kingdom.; McEntagart M; Medical Genetics Unit, St George's University of London, London, United Kingdom.; Khaw PT; Moorfields Eye Hospital, London, UK and University College London, Institute of Ophthalmology, London, United Kingdom.; Clericuzio C; Department of Pediatric Genetics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, United States of America.; Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.; Williams D; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, United Kingdom.; Newbury-Ecob R; Department of Clinical Genetics, University Hospitals, Bristol, United Kingdom.; Traboulsi EI; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, United States of America.; Silva ED; Department Ophthalmology, University Hospital of Coimbra, Coimbra, Portugal.; Madlom MM; Children's Hospital, Doncaster Royal Infirmary, Doncaster, United Kingdom.; Goudie DR; Human Genetics Unit, University of Dundee College of Medicine, Dentistry and Nursing, Ninewells Hospital, Dundee, United Kingdom.; Fleck BW; Department of Ophthalmology, Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh, United Kingdom.; Wieczorek D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.; Kohlhase J; Center for Human Genetics, Freiburg, Germany.; McTrusty AD; Department of Life Sciences, Glasgow Caledonian University, Glasgow, United Kingdom.; Gardiner C; Clinical Genetics, Southern General Hospital, Glasgow, United Kingdom.; Yale C; Department of Paediatrics and Child Health, Ipswich Hospital, Ipswich, United Kingdom.; Moore AT; Moorfields Eye Hospital, London, UK and University College London, Institute of Ophthalmology, London, United Kingdom.; Russell-Eggitt I; Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom.; Islam L; Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom.; Lees M; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London, United Kingdom.; Beales PL; Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom.; Tuft SJ; Moorfields Eye Hospital, London, UK and University College London, Institute of Ophthalmology, London, United Kingdom.; Solano JB; Ruber International Hospital, Medical Genetics Unit, Mirasierra, Madrid, Spain.; Splitt M; Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom.; Hertz JM; Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.; Prescott TE; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Shears DJ; Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.; Nischal KK; UPMC Eye Center, Children's Hospital of Pittsburgh of UPMC, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.; Doco-Fenzy M; Service de génétique, HMB CHU Reims, SFR Cap Sante. EA 3801, France.; Prieur F; CHU de Saint Etienne, Service de génétique médicale, Saint-Etienne, France.; Temple IK; Academic Unit of Genetic Medicine, Division of Human Genetics, University of Southampton, Southampton, United Kingdom.; Lachlan KL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; Damante G; Department of Medical and Biological Sciences, University of Udine, Udine, Italy.; Morrison DA; St. Thomas' Hospital, Westminster Bridge Road, London, United Kingdom.; van Heyningen V; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Delaney A; Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland.; Clinical Research Branch, National Institute of Environmental Health Sciences, Durham, North Carolina.; Volochayev R; Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland.; Clinical Research Branch, National Institute of Environmental Health Sciences, Durham, North Carolina.; Meader B; Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland.; Clinical Research Branch, National Institute of Environmental Health Sciences, Durham, North Carolina.; Lee J; National Institute of Dental and Craniofacial Research, Bethesda, Maryland.; Almpani K; National Institute of Dental and Craniofacial Research, Bethesda, Maryland.; Noukelak GY; Clinical Research Branch, National Institute of Environmental Health Sciences, Durham, North Carolina.; Henkind J; Stamford Pediatric Associates, Stamford, Connecticut.; Chalmers L; Department of Pediatrics, University of Oklahoma College of Medicine, Tulsa, Oklahoma.; Law JR; Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.; Williamson KA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Western General Hospital, Edinburgh, UK.; Jacobsen CM; Divisions of Endocrinology and Genetic and Genomics, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.; Buitrago TP; Fundación Hospital Infantil Universitario de San José, Bogotá, Colombia.; Perez O; Academia Nacional de Medicina de Colombia, Bogotá, Colombia.; Cho CH; Department of Radiology, Charité-University Medicine Berlin, Berlin, Germany.; Kaindl A; Biology & Neurobiology, Charité-University Medicine Berlin and Berlin Institute of Health, Berlin, Germany.; Rauch A; Institute of Medical Genetics and Radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Schlieren-Zurich, Switzerland.; Steindl K; Institute of Medical Genetics and Radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Schlieren-Zurich, Switzerland.; Garcia JE; División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.; Russell BE; Department of Pediatrics, Division of Genetics, University of California, Los Angeles, California.; Prasad R; Department of Neonatology, IPGME&R and SSKM Hospital, Kolkata, India.; Mondal UK; Department of Neonatology, IPGME&R and SSKM Hospital, Kolkata, India.; Reigstad HM; Department of Pediatric and Adolescent Medicine, Haukeland University Hospital, Bergen, Norway.; Clements S; Division of Endocrinology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.; Kim S; Clinical Research Branch, National Institute of Environmental Health Sciences, Durham, North Carolina.; Inoue K; Clinical Research Branch, National Institute of Environmental Health Sciences, Durham, North Carolina.; Arora G; Clinical Research Branch, National Institute of Environmental Health Sciences, Durham, North Carolina.; Salnikov KB; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.; DiOrio NP; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Prada R; Department of Craniofacial Surgery, Children's University Hospital of San Jose, Bogotá, Colombia.; Capri Y; Service de Génétique Clinique, CHU Robert Debré, Paris, France.; Morioka K; Department of Plastic and Reconstructive Surgery, Kagoshima City Hospital, Kagoshima, Japan.; Mizota M; Department of Pediatrics, University of Kagoshima Hospital, Kagoshima, Japan.; Zechi-Ceide RM; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.; Kokitsu-Nakata NM; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.; Tonello C; Craniofacial Team, HRCA, University of São Paulo, Bauru, Brazil.; Vendramini-Pittoli S; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.; da Silva Dalben G; Pediatric and Community Dentistry Sector, HRCA, University of São Paulo, Bauru, Brazil.; Balasubramanian R; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Dwyer AA; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.; William F. Connell School of Nursing, Boston College, Chestnut Hill, Massachusetts.; Seminara SB; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Crowley WF; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Plummer L; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Hall JE; Clinical Research Branch, National Institute of Environmental Health Sciences, Durham, North Carolina.; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Graham JM; Department of Pediatrics, Cedars Sinai Medical Center, Los Angeles, California.; Lin AE; Medical Genetics, MassGeneral Hospital for Children and Harvard Medical School, Boston, Massachusetts.; Shaw ND; Clinical Research Branch, National Institute of Environmental Health Sciences, Durham, North Carolina.; Harvard Reproductive Endocrine Sciences Center and NICHD Center of Excellence in Translational Research in Fertility and Infertility, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Johnston JJ; National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA.; Williamson KA; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK.; Chou CM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Department of Emergency Medicine, The Permanente Medical Group (TPMG), Roseville/Sacramento, California, USA.; Sapp JC; National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA.; Ansari M; MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.; DNA Diagnostic Laboratory, South East Scotland Regional Genetics Services, Western General Hospital, Edinburgh, UK.; Chapman HM; Department of Cell Biology and Human Anatomy, University of California Davis, Davis, California, USA.; Cooper DN; Institute of Medical Genetics, Cardiff University, Cardiff, UK.; Dabir T; Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, UK.; Dudley JN; National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA.; Holt RJ; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Ragge NK; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Schäffer AA; Computational Biology Branch, National Center for Biotechnology Information, Bethesda, Maryland, USA.; Cancer Data Science Laboratory, National Cancer Institute, Bethesda, Maryland, USA.; Sen SK; Leidos Biomedical Research, Inc, Basic Science Program, Cancer & Inflammation, Frederick National Laboratory for Cancer Research, Bethesda, Maryland, USA.; Slavotinek AM; Department of Pediatrics and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.; FitzPatrick DR; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK.; Glaser TM; Department of Cell Biology and Human Anatomy, University of California Davis, Davis, California, USA.; Stewart F; Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, UK.; Black GC; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; St Mary's Hospital, Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, Manchester, UK.; Biesecker LG; National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Henderson, Robert H; Williamson, Kathleen A; Kennedy, Joanna S; Webster, Andrew R; Holder, Graham E; Robson, Anthony G; FitzPatrick, David R; van Heyningen, Veronica; Moore, Anthony T

Henderson, R H, Williamson, K A, Kennedy, J S, Webster, A R, Holder, G E, Robson, A G, FitzPatrick, D R, van Heyningen, V & Moore, A T 2009, ' A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction ', Molecular Vision, vol. 15, no. 260, pp. 2442-7 . < http://www.molvis.org/molvis/v15/a260/ >

Bamiou DE; Academic Unit of Audiological Medicine, Institute of Child Health, Department of Clinical and Experimental Epilepsy, and Division of Inherited Eye Disease, and Moorfields Eye Hospital, University College London, UK. D.Bamiou@ich.ucl.ac.uk; Free SL; Sisodiya SM; Chong WK; Musiek F; Williamson KA; van Heyningen V; Moore AT; Gadian D; Luxon LM

Publisher: American Medical Association Country of Publication: United States NLM ID: 9422751 Publication Model: Print Cited Medium: Print ISSN: 1072-4710 (Print) Linking ISSN: 10724710 NLM ISO Abbreviation: Arch Pediatr Adolesc Med Subsets: MEDLINE

Williamson KA; Medical Genetics Section, MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.; Hever AM; Rainger J; Rogers RC; Magee A; Fiedler Z; Keng WT; Sharkey FH; McGill N; Hill CJ; Schneider A; Messina M; Turnpenny PD; Fantes JA; van Heyningen V; FitzPatrick DR

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Sisodiya SM; Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, London, and National Society for Epilepsy, Bucks SL90RJ, London, UK. sisodiya@ion.ucl.ac.uk; Ragge NK; Cavalleri GL; Hever A; Lorenz B; Schneider A; Williamson KA; Stevens JM; Free SL; Thompson PJ; van Heyningen V; Fitzpatrick DR

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print Cited Medium: Print ISSN: 0013-9580 (Print) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE