부산대학교 도서관

Farmery, James HR; Smith, Mike L; Lynch, Andy G; Huissoon, Aarnoud; Furnell, Abigail; Mead, Adam; Levine, Adam P; Manzur, Adnan; Thrasher, Adrian; Greenhalgh, Alan; Parker, Alasdair; Sanchis-Juan, Alba; Richter, Alex; Gardham, Alice; Lawrie, Allan; Sohal, Aman; Creaser-Myers, Amanda; Frary, Amy; Greinacher, Andreas; Themistocleous, Andreas; Peacock, Andrew J; Marshall, Andrew; Mumford, Andrew; Rice, Andrew; Webster, Andrew; Brady, Angie; Koziell, Ania; Manson, Ania; Chandra, Anita; Hensiek, Anke; in't Veld, Anna Huis; Maw, Anna; Kelly, Anne M; Moore, Anthony; Noordegraaf, Anton Vonk; Attwood, Antony; Herwadkar, Archana; Ghofrani, Ardi; Houweling, Arjan C; Girerd, Barbara; Furie, Bruce; Treacy, Carmen M; Millar, Carolyn M; Sewell, Carrock; Roughley, Catherine; Titterton, Catherine; Williamson, Catherine; Hadinnapola, Charaka; Deshpande, Charu; Toh, Cheng-Hock; Bacchelli, Chiara; Patch, Chris; Van Geet, Chris; Babbs, Christian; Bryson, Christine; Penkett, Christopher J; Rhodes, Christopher J; Watt, Christopher; Bethune, Claire; Booth, Claire; Lentaigne, Claire; McJannet, Coleen; Church, Colin; French, Courtney; Samarghitean, Crina; Halmagyi, Csaba; Gale, Daniel; Greene, Daniel; Hart, Daniel; Allsup, David; Bennett, David; Edgar, David; Kiely, David G; Gosal, David; Perry, David J; Keeling, David; Montani, David; Shipley, Debbie; Whitehorn, Deborah; Fletcher, Debra; Krishnakumar, Deepa; Grozeva, Detelina; Kumararatne, Dinakantha; Thompson, Dorothy; Josifova, Dragana; Maher, Eamonn; Wong, Edwin KS; Murphy, Elaine; Dewhurst, Eleanor; Louka, Eleni; Rosser, Elisabeth; Chalmers, Elizabeth; Colby, Elizabeth; Drewe, Elizabeth; McDermott, Elizabeth; Thomas, Ellen; Staples, Emily; Clement, Emma; Matthews, Emma; Wakeling, Emma; Oksenhendler, Eric; Turro, Ernest; Reid, Evan; Wassmer, Evangeline; Raymond, F Lucy; Hu, Fengyuan; Kennedy, Fiona; Soubrier, Florent; Flinter, Frances; Kovacs, Gabor; Polwarth, Gary; Ambegaonkar, Gautum; Arno, Gavin; Hudson, Gavin; Woods, Geoff; Coghlan, Gerry; Hayman, Grant; Arumugakani, Gururaj; Schotte, Gwen; Cook, H Terry; Alachkar, Hana; Allen, Hana Lango; Lango-Allen, Hana; Stark, Hannah; Stauss, Hans; Schulze, Harald; Boggard, Harm J; Baxendale, Helen; Dolling, Helen; Firth, Helen; Gall, Henning; Watson, Henry; Longhurst, Hilary; Markus, Hugh S; Watkins, Hugh; Simeoni, Ilenia; Emmerson, Ingrid; Roberts, Irene; Quinti, Isabella; Wanjiku, Ivy; Gibbs, J Simon R; Thaventhiran, James; Whitworth, James; Hurst, Jane; Collins, Janine; Suntharalingam, Jay; Payne, Jeanette; Thachil, Jecko; Martin, Jennifer M; Martin, Jennifer; Carmichael, Jenny; Maimaris, Jesmeen; Paterson, Joan; Pepke-Zaba, Joanna; Heemskerk, Johan WM; Gebhart, Johanna; Davis, John; Pasi, John; Bradley, John R; Wharton, John; Stephens, Jonathan; Rankin, Julia; Anderson, Julie; Vogt, Julie; von Ziegenweldt, Julie; Rehnstrom, Karola; Megy, Karyn; Talks, Kate; Peerlinck, Kathelijne; Yates, Katherine; Freson, Kathleen; Stirrups, Kathleen; Gomez, Keith; Smith, Kenneth GC; Carss, Keren; Rue-Albrecht, Kevin; Gilmour, Kimberley; Masati, Larahmie; Scelsi, Laura; Southgate, Laura; Ranganathan, Lavanya; Ginsberg, Lionel; Devlin, Lisa; Willcocks, Lisa; Ormondroyd, Liz; Lorenzo, Lorena; Harper, Lorraine; Allen, Louise; Daugherty, Louise; Chitre, Manali; Kurian, Manju; Humbert, Marc; Tischkowitz, Marc; Bitner-Glindzicz, Maria; Erwood, Marie; Scully, Marie; Veltman, Marijke; Caulfield, Mark; Layton, Mark; McCarthy, Mark; Ponsford, Mark; Toshner, Mark; Bleda, Marta; Wilkins, Martin; Mathias, Mary; Reilly, Mary; Afzal, Maryam; Brown, Matthew; Rondina, Matthew; Stubbs, Matthew; Haimel, Matthias; Lees, Melissa; Laffan, Michael A; Browning, Michael; Gattens, Michael; Richards, Michael; Michaelides, Michel; Lambert, Michele P; Makris, Mike; De Vries, Minka; Mahdi-Rogers, Mohamed; Saleem, Moin; Thomas, Moira; Holder, Muriel; Eyries, Melanie; Clements-Brod, Naomi; Canham, Natalie; Dormand, Natalie; Van Zuydam, Natalie; Kingston, Nathalie; Ghali, Neeti; Cooper, Nichola; Morrell, Nicholas W; Yeatman, Nigel; Roy, Noemi; Shamardina, Olga; Alavijeh, Omid S; Gresele, Paolo; Nurden, Paquita; Chinnery, Patrick; Deegan, Patrick; Yong, Patrick; Yu-Wai-Man, Patrick; Corris, Paul A; Calleja, Paul; Gissen, Paul; Bolton-Maggs, Paula; Rayner-Matthews, Paula; Ghataorhe, Pavandeep K; Gordins, Pavel; Stein, Penelope; Collins, Peter; Dixon, Peter; Kelleher, Peter; Ancliff, Phil; Yu, Ping; Tait, R Campbell; Linger, Rachel; Doffinger, Rainer; Machado, Rajiv; Kazmi, Rashid; Sargur, Ravishankar; Favier, Remi; Tan, Rhea; Liesner, Ri; Antrobus, Richard; Sandford, Richard; Scott, Richard; Trembath, Richard; Horvath, Rita; Hadden, Rob; MackenzieRoss, Rob V; Henderson, Robert; MacLaren, Robert; James, Roger; Ghurye, Rohit; DaCosta, Rosa; Hague, Rosie; Mapeta, Rutendo; Armstrong, Ruth; Noorani, Sadia; Murng, Sai; Santra, Saikat; Tuna, Salih; Johnson, Sally; Chong, Sam; Lear, Sara; Walker, Sara; Goddard, Sarah; Mangles, Sarah; Westbury, Sarah; Mehta, Sarju; Hackett, Scott; Nejentsev, Sergey; Moledina, Shahin; Bibi, Shahnaz; Meehan, Sharon; Othman, Shokri; Revel-Vilk, Shoshana; Holden, Simon; McGowan, Simon; Staines, Simon; Savic, Sinisa; Burns, Siobhan; Grigoriadou, Sofia; Papadia, Sofia; Ashford, Sofie; Schulman, Sol; Ali, Sonia; Park, Soo-Mi; Davies, Sophie; Stock, Sophie; Ali, Souad; Deevi, Sri VV; Graf, Stefan; Ghio, Stefano; Wort, Stephen J; Jolles, Stephen; Austin, Steve; Welch, Steve; Meacham, Stuart; Rankin, Stuart; Walker, Suellen; Seneviratne, Suranjith; Holder, Susan; Sivapalaratnam, Suthesh; Richardson, Sylvia; Kuijpers, Taco; Kuijpers, Taco W; Bariana, Tadbir K; Bakchoul, Tamam; Everington, Tamara; Renton, Tara; Young, Tim; Aitman, Timothy; Warner, Timothy Q; Vale, Tom; Hammerton, Tracey; Pollock, Val; Matser, Vera; Cookson, Victoria; Clowes, Virginia; Qasim, Waseem; Wei, Wei; Erber, Wendy N; Ouwehand, Willem H; Astle, William; Egner, William; Turek, Wojciech; Henskens, Yvonne; Tan, Yvonne; Dis, NIHR BioResource-Rare

SCIENTIFIC REPORTS

Ito, Yoko; Carss, Keren; Duarte, Sofia; Hartley, Taila; Keren, Boris; Kurian, Manju; Marey, Isabelle; Charles, Perinne; Mendonça, Carla; Nava, Caroline; Pfundt, Rolph; Sanchis-Juan, Alba; van Bokhoven, Hans; van Essen, Anthony; van Ravenswaaij-Arts, Conny; Boycott, Kym; Kernohan, Kristin; Dyack, Sarah; Raymond, F. Lucy; Aitman, Timothy; Bennett, David; Caulfield, Mark; Chinnery, Patrick; Gale, Daniel; Koziell, Ania; Kuijpers, Taco; Laffan, Michael; Maher, Eamonn; Markus, Hugh; Morrell, Nicholas; Ouwehand, Willem; Perry, David; Roberts, Irene; Smith, Kenneth G.C.; Thrasher, Adrian; Watkins, Hugh; Williamson, Catherine; Woods, Geoffrey; Ashford, Sofie; Bradley, John; Fletcher, Debra; Hammerton, Tracey; James, Roger; Kingston, Nathalie; Penkett, Christopher; Stirrups, Kathleen; Veltman, Marijke; Young, Tim; Brown, Matthew; Clements-Brod, Naomi; Davis, John; Dewhurst, Eleanor; Dolling, Helen; Erwood, Marie; Frary, Amy; Linger, Rachel; Martin, Jennifer; Papadia, Sofia; Rehnstrom, Karola; Stark, Hannah; Allsup, David; Austin, Steve; Bakchoul, Tamam; Bariana, Tadbir; Bolton-Maggs, Paula; Chalmers, Elizabeth; Collins, Janine; Collins, Peter; Erber, Wendy; Everington, Tamara; Favier, Remi; Freson, Kathleen; Furie, Bruce; Gattens, Michael; Gebhart, Johanna; Gomez, Keith; Greene, Daniel; Greinacher, Andreas; Gresele, Paolo; Hart, Daniel; Heemskerk, Johan W.M.; Henskens, Yvonne; Kazmi, Rashid; Keeling, David; Kelly, Anne; Lambert, Michele; Lentaigne, Claire; Liesner, Ri; Makris, Mike; Mangles, Sarah; Mathias, Mary; Millar, Carolyn; Mumford, Andrew; Nurden, Paquita; Payne, Jeanette; Pasi, John; Peerlinck, Kathelijne; Revel-Vilk, Shoshana; Richards, Michael; Rondina, Matthew; Roughley, Catherine; Schulman, Sol; Schulze, Harald; Scully, Marie; Sivapalaratnam, Suthesh; Stubbs, Matthew; Tait, R. Campbell; Talks, Kate; Thachil, Jecko; Toh, Cheng-Hock; Turro, Ernest; van Geet, Chris; de Vries, Minka; Warner, Timothy; Watson, Henry; Westbury, Sarah; Furnell, Abigail; Mapeta, Rutendo; Rayner-Matthews, Paula; Simeoni, Ilenia; Staines, Simon; Stephens, Jonathan; Watt, Christopher; Whitehorn, Deborah; Attwood, Antony; Daugherty, Louise; Deevi, Sri V.V.; Halmagyi, Csaba; Hu, Fengyuan; Matser, Vera; Meacham, Stuart; Megy, Karyn; Shamardina, Olga; Titterton, Catherine; Tuna, Salih; Yu, Ping; von Ziegenweldt, Julie; Astle, William; Bleda, Marta; Gräf, Stefan; Haimel, Matthias; Lango-Allen, Hana; Richardson, Sylvia; Calleja, Paul; Rankin, Stuart; Turek, Wojciech; Anderson, Julie; Bryson, Christine; Carmichael, Jenny; Mcjannet, Coleen; Stock, Sophie; Allen, Louise; Ambegaonkar, Gautum; Armstrong, Ruth; Arno, Gavin; Bitner-Glindzicz, Maria; Brady, Angie; Canham, Natalie; Chitre, Manali; Clement, Emma; Clowes, Virginia; Deegan, Patrick; Deshpande, Charu; Doffinger, Rainer; Firth, Helen; Flinter, Frances; French, Courtney; Gardham, Alice; Ghali, Neeti; Gissen, Paul; Grozeva, Detelina; Henderson, Robert; Hensiek, Anke; Holden, Simon; Holder, Muriel; Holder, Susan; Hurst, Jane; Josifova, Dragana; Krishnakumar, Deepa; Lees, Melissa; Maclaren, Robert; Maw, Anna; Mehta, Sarju; Michaelides, Michel; Moore, Anthony; Murphy, Elaine; Park, Soo-Mi; Parker, Alasdair; Patch, Chris; Paterson, Joan; Rankin, Julia; Reid, Evan; Rosser, Elisabeth; Sandford, Richard; Santra, Saikat; Scott, Richard; Sohal, Aman; Stein, Penelope; Thomas, Ellen; Thompson, Dorothy; Tischkowitz, Marc; Vogt, Julie; Wakeling, Emma; Wassmer, Evangeline; Webster, Andrew; Ali, Sonia; Ali, Souad; Boggard, Harm; Church, Colin; Coghlan, Gerry; Cookson, Victoria; Corris, Paul; Creaser-Myers, Amanda; Dacosta, Rosa; Dormand, Natalie; Eyries, Mélanie; Gall, Henning; Ghataorhe, Pavandeep; Ghio, Stefano; Ghofrani, Ardi; Gibbs, J. Simon R.; Girerd, Barbara; Greenhalgh, Alan; Hadinnapola, Charaka; Houweling, Arjan; Humbert, Marc; In’t Veld, Anna Huis; Kennedy, Fiona; Kiely, David; Kovacs, Gabor; Lawrie, Allan; Ross, Rob; Machado, Rajiv; Masati, Larahmie; Meehan, Sharon; Moledina, Shahin; Montani, David; Othman, Shokri; Peacock, Andrew; Pepke-Zaba, Joanna; Pollock, Val; Polwarth, Gary; Ranganathan, Lavanya; Rhodes, Christopher; Rue-Albrecht, Kevin; Schotte, Gwen; Shipley, Debbie; Soubrier, Florent; Southgate, Laura; Scelsi, Laura; Suntharalingam, Jay; Tan, Yvonne; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Vonk Noordegraaf, Anton; Walker, Sara; Wanjiku, Ivy; Wharton, John; Wilkins, Martin; Wort, Stephen; Yates, Katherine; Alachkar, Hana; Antrobus, Richard; Arumugakani, Gururaj; Bacchelli, Chiara; Baxendale, Helen; Bethune, Claire; Bibi, Shahnaz; Booth, Claire; Browning, Michael; Burns, Siobhan; Chandra, Anita; Cooper, Nichola; Davies, Sophie; Devlin, Lisa; Drewe, Elizabeth; Edgar, David; Egner, William; Ghurye, Rohit; Gilmour, Kimberley; Goddard, Sarah; Gordins, Pavel; Grigoriadou, Sofia; Hackett, Scott; Hague, Rosie; Harper, Lorraine; Hayman, Grant; Herwadkar, Archana; Huissoon, Aarnoud; Jolles, Stephen; Kelleher, Peter; Kumararatne, Dinakantha; Lear, Sara; Longhurst, Hilary; Lorenzo, Lorena; Maimaris, Jesmeen; Manson, Ania; Mcdermott, Elizabeth; Murng, Sai; Nejentsev, Sergey; Noorani, Sadia; Oksenhendler, Eric; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Richter, Alex; Samarghitean, Crina; Sargur, Ravishankar; Savic, Sinisa; Seneviratne, Suranjith; Sewell, Carrock; Staples, Emily; Stauss, Hans; Thaventhiran, James; Thomas, Moira; Welch, Steve; Willcocks, Lisa; Yeatman, Nigel; Yong, Patrick; Ancliff, Phil; Babbs, Christian; Layton, Mark; Louka, Eleni; Mcgowan, Simon; Mead, Adam; Roy, Noémi; Chambers, Jenny; Dixon, Peter; Estiu, Cecelia; Hague, Bill; Marschall, Hanns-Ulrich; Simpson, Michael; Chong, Sam; Emmerson, Ingrid; Ginsberg, Lionel; Gosal, David; Hadden, Rob; Horvath, Rita; Mahdi-Rogers, Mohamed; Manzur, Adnan; Marshall, Andrew; Matthews, Emma; Mccarthy, Mark; Reilly, Mary; Renton, Tara; Rice, Andrew; Themistocleous, Andreas; Vale, Tom; van Zuydam, Natalie; Walker, Suellen; Ormondroyd, Liz; Hudson, Gavin; Wei, Wei; Yu Wai Man, Patrick; Whitworth, James; Afzal, Maryam; Colby, Elizabeth; Saleem, Moin; Alavijeh, Omid; Cook, H. Terry; Johnson, Sally; Levine, Adam; Wong, Edwin K.S.; Tan, Rhea; Mackenzie, Alex; Majewski, Jacek; Brudno, Michael; Bulman, Dennis; Dyment, David

Am J Hum Genet
NIHR BioResource & Care4Rare Canada Consortium 2018, 'De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures', American journal of human genetics, vol. 103, no. 1, pp. 144-153. https://doi.org/10.1016/j.ajhg.2018.06.001
American Journal of Human Genetics, 103, 1, pp. 144-153
Ito, Y, Carss, K J, Duarte, S T, Hartley, T, Keren, B, Kurian, M A, Marey, I, Charles, P, Mendonca, C, Nava, C, Pfundt, R, Sanchis-Juan, A, van Bokhoven, H, van Essen, A, van Ravenswaaij-Arts, C, Koziell, A, Boycott, K M & Kernohan, K D & Dyack, S & Raymond, F L 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. ', American Journal of Human Genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001

Carss, Keren J.; Arno, Gavin; Erwood, Marie; Stephens, Jonathan; Sanchis Juan, Alba; Hull, Sarah; Megy, Karyn; Grozeva, Detelina; Dewhurst, Eleanor; Malka, Samantha; Plagnol, Vincent; Penkett, Christopher; Stirrups, Kathleen; Rizzo, Roberta; Wright, Genevieve; Josifova, Dragana; Bitner Glindzicz, Maria; Scott, Richard H.; Clement, Emma; Allen, Louise; Armstrong, Ruth; Brady, Angela F.; Carmichael, Jenny; Chitre, Manali; Henderson, Robert H. H.; Hurst, Jane; Maclaren, Robert E.; Murphy, Elaine; Paterson, Joan; Rosser, Elisabeth; Thompson, Dorothy A.; Wakeling, Emma; Ouwehand, Willem H.; Michaelides, Michel; Moore, Anthony T.; Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K.; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bleda, Marta; Boggard, Harm; Bolton Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Church, Colin; Clements Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser Myers, Amanda; Dacosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V. V.; Deshpande, Charu; Devlin, Lisa; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Flinter, Frances; Fox, James C.; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghurye, Rohit; Gibbs, Simon; Gilmour, Kimberley; Gissen, Paul; Goddard, Sarah; Gomez, Keith; Gordins, Pavel; Gräf, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Hackett, Scott; Hadinnapola, Charaka; Hague, Rosie; Haimel, Matthias; Halmagyi, Csaba; Hammerton, Tracey; Hart, Daniel; Hayman, Grant; Heemskerk, Johan W. M.; Henderson, Robert; Hensiek, Anke; Henskens, Yvonne; Herwadkar, Archana; Holden, Simon; Holder, Muriel; Holder, Susan; Hu, Fengyuan; Huissoon, Aarnoud; Humbert, Marc; James, Roger; Jolles, Stephen; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Machado, Rajiv; Mackenzie, Rob; Maclaren, Robert; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Manson, Ania; Mapeta, Rutendo; Markus, Hugh S.; Martin, Jennifer; Masati, Larahmie; Mathias, Mary; Matser, Vera; Maw, Anna; Mcdermott, Elizabeth; Mcjannet, Coleen; Meacham, Stuart; Meehan, Sharon; Mehta, Sarju; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Papadia, Sofia; Park, Soo Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke Zaba, Joanna; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; QUINTI, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. Lucy; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Roughley, Catherine; Rue Albrecht, Kevin; Samarghitean, Crina; Sandford, Richard; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schulman, Sol; Schulze, Harald; Scott, Richard; Scully, Marie; Seneviratne, Suranjith; Sewell, Carrock; Shamardina, Olga; Shipley, Debbie; Simeoni, Ilenia; Sivapalaratnam, Suthesh; Smith, Kenneth; Sohal, Aman; Southgate, Laura; Staines, Simon; Staples, Emily; Stauss, Hans; Stein, Penelope; Stock, Sophie; Suntharalingam, Jay; Tait, R. Campbell; Talks, Kate; Tan, Yvonne; Thachil, Jecko; Thaventhiran, James; Thomas, Ellen; Thomas, Moira; Thompson, Dorothy; Thrasher, Adrian; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng Hock; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Van Geet, Chris; Veltman, Marijke; Vogt, Julie; von Ziegenweldt, Julie; Noordegraaf, Anton Vonk; Wanjiku, Ivy; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Webster, Andrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Webster, Andrew R.

NIHR BioResource Rare Diseases Consortium 2017, 'Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease', American journal of human genetics, vol. 100, no. 1, pp. 75-90. https://doi.org/10.1016/j.ajhg.2016.12.003
Carss, K J, Arno, G, Erwood, M, Stephens, J, Sanchis-Juan, A, Hull, S, Megy, K, Grozeva, D, Dewhurst, E, Malka, S, Plagnol, V, Penkett, C, Stirrups, K, Rizzo, R, Wright, G, Josifova, D, Bitner-Glindzicz, M, Scott, R H, Clement, E, Allen, L, Armstrong, R, Brady, A F, Carmichael, J, Chitre, M, Henderson, R H H, Hurst, J, MacLaren, R E, Murphy, E, Paterson, J, Rosser, E, Thompson, D A, Wakeling, E, Ouwehand, W H, Michaelides, M, Moore, A T, Webster, A R, Raymond, F L & Westbury, S 2017, 'Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease', American Journal of Human Genetics, vol. 100, no. 1, pp. 75-90. https://doi.org/10.1016/j.ajhg.2016.12.003

James H. R. Farmery; Mike L. Smith; Aarnoud Huissoon; Abigail Furnell; Adam Mead; Adam P. Levine; Adnan Manzur; Adrian Thrasher; Alan Greenhalgh; Alasdair Parker; Alba Sanchis-Juan; Alex Richter; Alice Gardham; Allan Lawrie; Aman Sohal; Amanda Creaser-Myers; Amy Frary; Andreas Greinacher; Andreas Themistocleous; Andrew J. Peacock; Andrew Marshall; Andrew Mumford; Andrew Rice; Andrew Webster; Angie Brady; Ania Koziell; Ania Manson; Anita Chandra; Anke Hensiek; Anna Huis in’t Veld; Anna Maw; Anne M. Kelly; Anthony Moore; Anton Vonk Noordegraaf; Antony Attwood; Archana Herwadkar; Ardi Ghofrani; Arjan C. Houweling; Barbara Girerd; Bruce Furie; Carmen M. Treacy; Carolyn M. Millar; Carrock Sewell; Catherine Roughley; Catherine Titterton; Catherine Williamson; Charaka Hadinnapola; Charu Deshpande; Cheng-Hock Toh; Chiara Bacchelli; Chris Patch; Chris Van Geet; Christian Babbs; Christine Bryson; Christopher J. Penkett; Christopher J. Rhodes; Christopher Watt; Claire Bethune; Claire Booth; Claire Lentaigne; Coleen McJannet; Colin Church; Courtney French; Crina Samarghitean; Csaba Halmagyi; Daniel Gale; Daniel Greene; Daniel Hart; David Allsup; David Bennett; David Edgar; David G. Kiely; David Gosal; David J. Perry; David Keeling; David Montani; Debbie Shipley; Deborah Whitehorn; Debra Fletcher; Deepa Krishnakumar; Detelina Grozeva; Dinakantha Kumararatne; Dorothy Thompson; Dragana Josifova; Eamonn Maher; Edwin K. S. Wong; Elaine Murphy; Eleanor Dewhurst; Eleni Louka; Elisabeth Rosser; Elizabeth Chalmers; Elizabeth Colby; Elizabeth Drewe; Elizabeth McDermott; Ellen Thomas; Emily Staples; Emma Clement; Emma Matthews; Emma Wakeling; Eric Oksenhendler; Ernest Turro; Evan Reid; Evangeline Wassmer; F. Lucy Raymond; Fengyuan Hu; Fiona Kennedy; Florent Soubrier; Frances Flinter; Gabor Kovacs; Gary Polwarth; Gautum Ambegaonkar; Gavin Arno; Gavin Hudson; Geoff Woods; Gerry Coghlan; Grant Hayman; Gururaj Arumugakani; Gwen Schotte; H. Terry Cook; Hana Alachkar; Hana Lango Allen; Hana Lango-Allen; Hannah Stark; Hans Stauss; Harald Schulze; Harm J. Boggard; Helen Baxendale; Helen Dolling; Helen Firth; Henning Gall; Henry Watson; Hilary Longhurst; Hugh S. Markus; Hugh Watkins; Ilenia Simeoni; Ingrid Emmerson; Irene Roberts; Isabella Quinti; Ivy Wanjiku; J. Simon R. Gibbs; James Thaventhiran; James Whitworth; Jane Hurst; Janine Collins; Jay Suntharalingam; Jeanette Payne; Jecko Thachil; Jennifer M. Martin; Jennifer Martin; Jenny Carmichael; Jesmeen Maimaris; Joan Paterson; Joanna Pepke-Zaba; Johan W. M. Heemskerk; Johanna Gebhart; John Davis; John Pasi; John R. Bradley; John Wharton; Jonathan Stephens; Julia Rankin; Julie Anderson; Julie Vogt; Julie von Ziegenweldt; Karola Rehnstrom; Karyn Megy; Kate Talks; Kathelijne Peerlinck; Katherine Yates; Kathleen Freson; Kathleen Stirrups; Keith Gomez; Kenneth G. C. Smith; Keren Carss; Kevin Rue-Albrecht; Kimberley Gilmour; Larahmie Masati; Laura Scelsi; Laura Southgate; Lavanya Ranganathan; Lionel Ginsberg; Lisa Devlin; Lisa Willcocks; Liz Ormondroyd; Lorena Lorenzo; Lorraine Harper; Louise Allen; Louise Daugherty; Manali Chitre; Manju Kurian; Marc Humbert; Marc Tischkowitz; Maria Bitner-Glindzicz; Marie Erwood; Marie Scully; Marijke Veltman; Mark Caulfield; Mark Layton; Mark McCarthy; Mark Ponsford; Mark Toshner; Marta Bleda; Martin Wilkins; Mary Mathias; Mary Reilly; Maryam Afzal; Matthew Brown; Matthew Rondina; Matthew Stubbs; Matthias Haimel; Melissa Lees; Michael A. Laffan; Michael Browning; Michael Gattens; Michael Richards; Michel Michaelides; Michele P. Lambert; Mike Makris; Minka De Vries; Mohamed Mahdi-Rogers; Moin Saleem; Moira Thomas; Muriel Holder; Mélanie Eyries; Naomi Clements-Brod; Natalie Canham; Natalie Dormand; Natalie Van Zuydam; Nathalie Kingston; Neeti Ghali; Nichola Cooper; Nicholas W. Morrell; Nigel Yeatman; Noémi Roy; Olga Shamardina; Omid S. Alavijeh; Paolo Gresele; Paquita Nurden; Patrick Chinnery; Patrick Deegan; Patrick Yong; Patrick Yu-Wai-Man; Paul A. Corris; Paul Calleja; Paul Gissen; Paula Bolton-Maggs; Paula Rayner-Matthews; Pavandeep K. Ghataorhe; Pavel Gordins; Penelope Stein; Peter Collins; Peter Dixon; Peter Kelleher; Phil Ancliff; Ping Yu; R. Campbell Tait; Rachel Linger; Rainer Doffinger; Rajiv Machado; Rashid Kazmi; Ravishankar Sargur; Remi Favier; Rhea Tan; Ri Liesner; Richard Antrobus; Richard Sandford; Richard Scott; Richard Trembath; Rita Horvath; Rob Hadden; Rob V. MackenzieRoss; Robert Henderson; Robert MacLaren; Roger James; Rohit Ghurye; Rosa DaCosta; Rosie Hague; Rutendo Mapeta; Ruth Armstrong; Sadia Noorani; Sai Murng; Saikat Santra; Salih Tuna; Sally Johnson; Sam Chong; Sara Lear; Sara Walker; Sarah Goddard; Sarah Mangles; Sarah Westbury; Sarju Mehta; Scott Hackett; Sergey Nejentsev; Shahin Moledina; Shahnaz Bibi; Sharon Meehan; Shokri Othman; Shoshana Revel-Vilk; Simon Holden; Simon McGowan; Simon Staines; Sinisa Savic; Siobhan Burns; Sofia Grigoriadou; Sofia Papadia; Sofie Ashford; Sol Schulman; Sonia Ali; Soo-Mi Park; Sophie Davies; Sophie Stock; Souad Ali; Sri V. V. Deevi; Stefan Gräf; Stefano Ghio; Stephen J. Wort; Stephen Jolles; Steve Austin; Steve Welch; Stuart Meacham; Stuart Rankin; Suellen Walker; Suranjith Seneviratne; Susan Holder; Suthesh Sivapalaratnam; Sylvia Richardson; Taco Kuijpers; Taco W. Kuijpers; Tadbir K. Bariana; Tamam Bakchoul; Tamara Everington; Tara Renton; Tim Young; Timothy Aitman; Timothy Q. Warner; Tom Vale; Tracey Hammerton; Val Pollock; Vera Matser; Victoria Cookson; Virginia Clowes; Waseem Qasim; Wei Wei; Wendy N. Erber; Willem H. Ouwehand; William Astle; William Egner; Wojciech Turek; Yvonne Henskens; Yvonne Tan; Andy G. Lynch

Sci Rep
SCIENTIFIC REPORTS
Scientific Reports, Vol 8, Iss 1, Pp 1-17 (2018)
Farmery, J H R, Smith, M L, Huissoon, A, Furnell, A, Mead, A, Levine, A P, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, A J, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, Veld, A H IT, Maw, A, Kelly, A M, Moore, A, Vonk Noordegraaf, A, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, A C, Girerd, B, Furie, B, Treacy, C M, Millar, C M, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C-H, Bacchelli, C, Patch, C, Geet, C V, Babbs, C, Bryson, C, Penkett, C J, Rhodes, C J, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, D G, Gosal, D, Perry, D J, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, E K S, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, F L, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, H T, Alachkar, H, Lango Allen, H, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, H J, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, H S, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, J S R, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, J M, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, J W M, Gebhart, J, Davis, J, Pasi, J, Bradley, J R, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, K G C, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, M A, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, M P, Makris, M, de Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M L, Clements-Brod, N, Canham, N, Dormand, N, Zuydam, N V, Kingston, N, Ghali, N, Cooper, N, Morrell, N W, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, O S, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Man, P Y W, Corris, P A, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, P K, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, R C, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, Mackenzieross, R V, Henderson, R, MacLaren, R, James, R, Ghurye, R, Dacosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S-M, Davies, S, Stock, S, Ali, S, Deevi, S V V, Gräf, S, Ghio, S, Wort, S J, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Walker, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T, Kuijpers, T W, Bariana, T K, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, T Q, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, W N, Ouwehand, W H, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y & Lynch, A G 2018, 'Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data', Scientific Reports, vol. 8, no. 1, 1300. https://doi.org/10.1038/s41598-017-14403-y
Farmery, J H R, Smith, M L, Huissoon, A, Furnell, A, Mead, A, Levine, A P, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, A J, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, Veld, A H I T, Maw, A, Kelly, A M, Moore, A, Vonk Noordegraaf, A, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, A C, Girerd, B, Furie, B, Treacy, C M, Millar, C M, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C H, Bacchelli, C, Patch, C, Geet, C V, Babbs, C, Bryson, C, Penkett, C J, Rhodes, C J, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, D G, Gosal, D, Perry, D J, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, E K S, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, F L, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, H T, Alachkar, H, Lango-Allen, H, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, H J, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, H S, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, J S R, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, J M, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, J W M, Gebhart, J, Davis, J, Pasi, J, Bradley, J R, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, Von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, K G C, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, M A, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, M P, Makris, M, De Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M, Clements-Brod, N, Canham, N, Dormand, N, Zuydam, N V, Kingston, N, Ghali, N, Cooper, N, Morrell, N W, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, O S, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Man, P Y W, Corris, P A, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, P K, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, R C, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, Mackenzieross, R V, Henderson, R, MacLaren, R, James, R, Ghurye, R, Dacosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S M, Davies, S, Stock, S, Ali, S, Deevi, S V V, Gräf, S, Ghio, S, Wort, S J, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Walker, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T W, Kuijpers, T W, Bariana, T K, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, T Q, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, W N, Ouwehand, W H, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y & Lynch, A G 2018, 'Telomerecat : A ploidy-agnostic method for estimating telomere length from whole genome sequencing data', Scientific Reports, vol. 8, 1300. https://doi.org/10.1038/s41598-017-14403-y
Farmery, J H R, Smith, M L & Koziell, A & Lynch, A G 2018, ' Telomerecat : A ploidy-agnostic method for estimating telomere length from whole genome sequencing data ', Scientific Reports, vol. 8, no. 1, 1300 . https://doi.org/10.1038/s41598-017-14403-y

Arno, Gavin; Carss, Keren J; Hull, Sarah; Zihni, Ceniz; Robson, Anthony G; Fiorentino, Alessia; Hardcastle, Alison J; Holder, Graham E; Cheetham, Michael E; Plagnol, Vincent; Moore, Anthony; Raymond, F Lucy; Matter, Karl; Balda, Maria S; Webster, Andrew R; Black, Graeme; Hall, Georgina; Ingram, Stuart; Gillespie, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Inglehearn, Chris; Toomes, Carmel; Ali, Manir; McKibbin, Martin; Poulter, James; Khan, Kamron; Lord, Emma; Nemeth, Andrea; Downes, Susan; Halford, Stephanie; Yu, Jing; Lise, Stefano; Ponitkos, Nikos; Michaelides, Michel; Webster, Andrew; van Heyningen, Veronica; Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bitner-Glindzicz, Maria; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri VV; Deshpande, Charu

American Journal of Human Genetics, vol 100, iss 2

Carss, Keren J; Arno, Gavin; Erwood, Marie; Stephens, Jonathan; Sanchis-Juan, Alba; Hull, Sarah; Megy, Karyn; Grozeva, Detelina; Dewhurst, Eleanor; Malka, Samantha; Plagnol, Vincent; Penkett, Christopher; Stirrups, Kathleen; Rizzo, Roberta; Wright, Genevieve; Josifova, Dragana; Bitner-Glindzicz, Maria; Scott, Richard H; Clement, Emma; Allen, Louise; Armstrong, Ruth; Brady, Angela F; Carmichael, Jenny; Chitre, Manali; Henderson, Robert HH; Hurst, Jane; MacLaren, Robert E; Murphy, Elaine; Paterson, Joan; Rosser, Elisabeth; Thompson, Dorothy A; Wakeling, Emma; Ouwehand, Willem H; Michaelides, Michel; Moore, Anthony T; Consortium, NIHR-BioResource Rare Diseases; Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Church, Colin; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri VV; Deshpande, Charu; Devlin, Lisa; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David

American Journal of Human Genetics, vol 100, iss 1

Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K.; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bitner-Glindzicz, Maria; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cookson, Victoria; Cooper, Nichola; Corris, Paul; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V.V.; Deshpande, Charu; Devlin, Lisa; Dewhurst, Eleanor; Dixon, Peter; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Erwood, Marie; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Flinter, Frances; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghurye, Rohit; Gibbs, Simon; Gilmour, Kimberley; Gissen, Paul; Goddard, Sarah; Gomez, Keith; Gordins, Pavel; Graf, Stefan; Gräf, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Grozeva, Detelina; Hackett, Scott; Hadinnapola, Charaka; Hague, Rosie; Haimel, Matthias; Halmagyi, Csaba; Hammerton, Tracey; Hart, Daniel; Hayman, Grant; Heemskerk, Johan W.M.; Henderson, Robert; Hensiek, Anke; Henskens, Yvonne; Herwadkar, Archana; Holden, Simon; Holder, Muriel; Holder, Susan; Hu, Fengyuan; Huis in’t Veld, Anna; Huissoon, Aarnoud; Humbert, Marc; Hurst, Jane; James, Roger; Jolles, Stephen; Josifova, Dragana; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kuijpers, Taco; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lango-Allen, Hana; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Louka, Eleni; Machado, Rajiv; Ross, Rob Mackenzie; MacLaren, Robert; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Manson, Ania; Mapeta, Rutendo; Markus, Hugh S.; Martin, Jennifer; Masati, Larahmie; Mathias, Mary; Matser, Vera; Maw, Anna; McDermott, Elizabeth; McJannet, Coleen; Meacham, Stuart; Meehan, Sharon; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Murphy, Elaine; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Othman, Shokri; Ouwehand, Willem H.; Papadia, Sofia; Park, Soo-Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Paterson, Joan; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke-Zaba, Joanna; Perry, David; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. 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In The American Journal of Human Genetics 5 July 2018 103(1):3-18

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Helen ; Poduri, Annapurna ; Mefford, Heather C. ; Scheffer, Ingrid E. ; Haack, Tobias B. ; McCullagh, Gary ; Millichap, John J. ; Carvill, Gemma L. ; Maher, Eamonn R. ; Kurian, Manju A.

In The American Journal of Human Genetics 2 May 2019 104(5):948-956

Black, Graeme; Hall, Georgina; Ingram, Stuart; Gillespie, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Inglehearn, Chris; Toomes, Carmel; Ali, Manir; McKibbin, Martin; Poulter, James; Khan, Kamron; Lord, Emma; Nemeth, Andrea; Downes, Susan; Halford, Stephanie; Yu, Jing; Lise, Stefano; Arno, Gavin; Fiorentino, Alessia; Ponitkos, Nikos; Plagnol, Vincent; Michaelides, Michel; Hardcastle, Alison J.; Cheetham, Michael E.; Webster, Andrew R.; van Heyningen, Veronica; Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K.; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bitner-Glindzicz, Maria; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V.V.; Deshpande, Charu; Devlin, Lisa; Dewhurst, Eleanor; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Erwood, Marie; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Flinter, Frances; Fox, James C.; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghurye, Rohit; Gibbs, Simon; Gilmour, Kimberley; Gissen, Paul; Goddard, Sarah; Gomez, Keith; Gordins, Pavel; Gräf, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Grozeva, Detelina; Hackett, Scott; Hadinnapola, Charaka; Hague, Rosie; Haimel, Matthias; Halmagyi, Csaba; Hammerton, Tracey; Hart, Daniel; Hayman, Grant; Heemskerk, Johan W.M.; Henderson, Robert; Hensiek, Anke; Henskens, Yvonne; Herwadkar, Archana; Holden, Simon; Holder, Muriel; Holder, Susan; Hu, Fengyuan; Huissoon, Aarnoud; Humbert, Marc; Hurst, Jane; James, Roger; Jolles, Stephen; Josifova, Dragana; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Machado, Rajiv; Mackenzie, Rob; MacLaren, Robert; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Manson, Ania; Mapeta, Rutendo; Markus, Hugh S.; Martin, Jennifer; Masati, Larahmie; Mathias, Mary; Matser, Vera; Maw, Anna; McDermott, Elizabeth; McJannet, Coleen; Meacham, Stuart; Meehan, Sharon; Megy, Karyn; Mehta, Sarju; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Murphy, Elaine; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Ouwehand, Willem H.; Papadia, Sofia; Park, Soo-Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Paterson, Joan; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke-Zaba, Joanna; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. Lucy; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Rosser, Elisabeth; Roughley, Catherine; Rue-Albrecht, Kevin; Samarghitean, Crina; Sanchis-Juan, Alba; Sandford, Richard; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schulman, Sol; Schulze, Harald; Scott, Richard; Scully, Marie; Seneviratne, Suranjith; Sewell, Carrock; Shamardina, Olga; Shipley, Debbie; Simeoni, Ilenia; Sivapalaratnam, Suthesh; Smith, Kenneth; Sohal, Aman; Southgate, Laura; Staines, Simon; Staples, Emily; Stauss, Hans; Stein, Penelope; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Suntharalingam, Jay; Tait, R. Campbell; Talks, Kate; Tan, Yvonne; Thachil, Jecko; Thaventhiran, James; Thomas, Ellen; Thomas, Moira; Thompson, Dorothy; Thrasher, Adrian; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Van Geet, Chris; Veltman, Marijke; Vogt, Julie; von Ziegenweldt, Julie; Vonk Noordegraaf, Anton; Wakeling, Emma; Wanjiku, Ivy; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Webster, Andrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Carss, Keren J. ; Hull, Sarah ; Zihni, Ceniz ; Robson, Anthony G. ; Holder, Graham E. ; Moore, Anthony T. ; Matter, Karl ; Balda, Maria S.

In The American Journal of Human Genetics 2 February 2017 100(2):334-342