Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease / 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; 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; 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; 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; 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; Noordegraaf, Anton Vonk; 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; Webster, Andrew R.; Raymond, F. Lucy. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - 100:1(2017), pp. 75-90. [10.1016/j.ajhg.2016.12.003]
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
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; 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; 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; 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; 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; Noordegraaf, Anton Vonk; 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; Webster, Andrew R.; Raymond, F. Lucy
2017
Citazione
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease / 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; 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; 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; 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; 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; Noordegraaf, Anton Vonk; 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; Webster, Andrew R.; Raymond, F. Lucy. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - 100:1(2017), pp. 75-90. [10.1016/j.ajhg.2016.12.003]
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Il report seguente simula gli indicatori relativi alla propria produzione scientifica in relazione alle soglie ASN 2023-2025 del proprio SC/SSD. Si ricorda che il superamento dei valori soglia (almeno 2 su 3) è requisito necessario ma non sufficiente al conseguimento dell'abilitazione.
