학술논문
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'학술논문'
에서 검색결과 1,463건 | 목록
1~20
Academic Journal
Dolling, Helen; Rowitch, Sophie; Bromham, Malachy; Archer, Stephanie; O’Curry, Sara; Rowitch, David H.; Raymond, F. Lucy; Hughes, Claire; Baker, Kate
European Journal of Human Genetics. 34(2):260-269
Academic Journal
Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo‐Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik‐Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C.; Farrar, Michelle A.; Vuillerot, Carole
Ann Neurol
Annals of Neurology, 97, 4, pp. 611-628
2025, ' Congenital Titinopathy : Comprehensive Characterization of the Most Severe End of the Disease Spectrum ', Annals of Neurology, vol. 97, no. 4, pp. 611-628 . https://doi.org/10.1002/ana.27087
Annals of Neurology, 97, 4, pp. 611-628
2025, ' Congenital Titinopathy : Comprehensive Characterization of the Most Severe End of the Disease Spectrum ', Annals of Neurology, vol. 97, no. 4, pp. 611-628 . https://doi.org/10.1002/ana.27087
Academic Journal
Broeren, Eleanor C. ; Gitau, Vanessa N. ; Byrne, Alicia B. ; Ajuyah, Pamela ; Balzotti, Marie B. ; Berg, Jonathan S. ; Bluske, Krista ; Bowen, B. Monica ; Brown, Matthew P. ; Buchanan, Amanda ; Burns, Brendan T. ; Burns, Nicole J. ; Chandrasekhar, Anjana ; Chawla, Aditi ; Chong, Jessica X. ; Chopra, Maya ; Clause, Amanda R. ; DiStefano, Marina T. ; DiTroia, Stephanie ; Elnagheeb, Marwa A. ; Girod, Amanda N. ; Goel, Himanshu ; Golden-Grant, Katie L. ; Ha, Thuong ; Hamosh, Ada ; Huang, Jennifer M. ; Hughes, Madeline Y. ; Jamuar, Saumya S. ; Kam, Sylvia ; Kesari, Akanchha ; Koh, Ai Ling ; Lassiter, Rhonda N.T. ; Leigh, Sarah E. ; Lemire, Gabrielle ; Lim, Jiin Ying ; Malhotra, Alka ; McCurry, Hannah R. ; Milewski, Becky ; Moosa, Shahida ; Murray, Stephen A. ; Owens, Emma H. ; Palmer, Elizabeth E. ; Palus, Brooke C. ; Patel, Mayher J. ; Rajkumar, Revathi ; Ratliff, Julie C. ; Raymond, F. Lucy ; Della Ripa Rodrigues Assis, Bruno ; Sajan, Samin A. ; Schlachetzki, Zinayida ; Schmidt, Sarah A. ; Stark, Zornitza ; Strom, Samuel P. ; Taylor, Julie P. ; Thaxton, Courtney ; Thrush, Devon L. ; Toro, Sabrina ; Tshering, Kezang C. ; Vasilevsky, Nicole A. ; Wayburn, Bess ; Webb, Ryan F. ; O’Donnell-Luria, Anne ; Coffey, Alison J.
In Genetics in Medicine Open 2025 3
Academic Journal
Turnbull, Clare, Prof; Firth, Helen V, Prof; Wilkie, Andrew O M, Prof; Newman, William, Prof; Raymond, F Lucy, Prof; Tomlinson, Ian, Prof; Lachmann, Robin, PhD; Wright, Caroline F, Prof; Wordsworth, Sarah, Prof; George, Angela, MD; McCartney, Margaret, MRCGP; Lucassen, Anneke, Prof
The Lancet. 403(10426):583-586
Academic Journal
Küry, Sébastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie; Josiah, Sunday; Kiziltug, Emre; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Kundishora, Adam; Hao, Le; Li, Hong; Stevenson, Roger; Louie, Raymond; Deb, Wallid; Torti, Erin; Vignard, Virginie; Mcwalter, Kirsty; Raymond, F Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Õunap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid; Barr, Eileen; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor; Monaghan, Kristin; Rio, Marlène; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy; Wilson, Ashley; Quinquis, Delphine; Bréhéret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine; Berger, Sara; Milla, Sarah; Jaykumar, Ankita; Cobb, Melanie; Panchagnula, Shreyas; Duy, Phan; Vincent, Marie; Mercier, Sandra; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Audebert-Bellanger, Séverine; Odent, Sylvie; Schmitt, Sébastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill; Friez, Michael; Pérez-Peña, Helena; Akhtar Rizvi, Syed Raza; Haider, Shozeb; Antonarakis, Stylianos; Schwartz, Charles; Martínez, Francisco; Bézieau, Stéphane; Kahle, Kristopher; Isidor, Bertrand
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
instname
Academic Journal
Wolstencroft, Jeanne; Wicks, Francesca; Srinivasan, Ramya; Wynn, Sarah; Ford, Tamsin; Baker, Kate; Chawner, Samuel J. R. A.; Hall, Jeremy; van den Bree, Marianne B. M.; Owen, Michael J.; Skuse, David; Raymond, F. Lucy; Erwood, Marie; Lafont, Amy; Timur, Husne; Ye, Zheng; Walker, Susan; Printzlau, Frida; Juj, Manoj; Davies, Sarah; Denyer, Hayley; Watkins, Alice; Kerry, Eleanor; Coscini, Nadia; Fatih, Nasrtullah; Lucock, Anna; Denaxas, Spiros; Mandy, William; Walker, Neil; Wallwork, Sarah; Dewhurst, Eleanor; Cuthbert, Andrew; Challenger, Aimee; Andrews, Sophie; Holmans, Peter; Bowen, Samantha; Bradley, Karen; Birch, Philippa; Tong, Molly; Lewis, Nicola; Ray, Sinead; Sopp, Matthew; Moss, Hayley; Searle, Beverley; Robertson, Lisa; Berg, Jonathan; Lampe, Anne; Joss, Shelagh; Brennan, Paul; Kraus, Alison; Lahiri, Nayana; Weber, Astrid; Rawson, Myfanwy; Johnson, Diana; Vasudevan, Pradeep; Harrison, Rachel; Williams, Denise; Maher, Eamonn; Kini, Usha; Van Dijk, Fleur; Clowes, Virginia; Gurasashvilli, Jana; Mansour, Sahar; Holder-Espinasse, Muriel; Watford, Amy; Rankin, Julia; Baralle, Diana; Procter, Annie; Chawner, Samuel; Van den Bree, Marianne B. M.
Lancet Psychiatry
Academic Journal
Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan ; Armirola Ricaurte, Camila ; Dewhurst, Eleanor ; Low, Kayyi ; French, Courtney E. ; Grozeva, Detelina ; Stirrups, Kathleen ; Erwood, Marie ; McTague, Amy ; Penkett, Christopher J. ; Shamardina, Olga ; Tuna, Salih ; Daugherty, Louise C. ; Gleadall, Nicholas ; Duarte, Sofia T. ; Hedrera-Fernández, Antonio ; Vogt, Julie ; Ambegaonkar, Gautam ; Chitre, Manali ; Josifova, Dragana ; Kurian, Manju A. ; Parker, Alasdair ; Rankin, Julia ; Reid, Evan ; Wakeling, Emma ; Wassmer, Evangeline ; Woods, C. Geoffrey ; Raymond, F. Lucy ; Carss, Keren J.
In The American Journal of Human Genetics 3 August 2023 110(8):1343-1355
Academic Journal
Reid, Kimberley M.; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M.; Papandreou, Apostolos; Simpson, Michael A.; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smith, Martin; Pall, Hardev; Lunt, Peter; De Gressi, Susanna; Kamsteeg, Erik‐Jan; Haack, Tobias B.; Carr, Lucinda; Guerreiro, Rita; Bras, Jose; Maher, Eamonn R.; Scott, Richard H.; Vandenberg, Robert J.; Raymond, F. Lucy; Chong, Wui K.; Sudhakar, Sniya; Mankad, Kshitij; Reith, Maarten E.; Campeau, Philippe M.; Harvey, Robert J.; Kurian, Manju A.
Mov Disord
Movement disorders 37(10), 2139-2146 (2022). doi:10.1002/mds.29147
Reid, K M, Spaull, R, Salian, S, Barwick, K, Meyer, E, Zhen, J, Hirata, H, Sheipouri, D, Benkerroum, H, Gorman, K M, Papandreou, A, Simpson, M A, Hirano, Y, Farabella, I, Topf, M, Grozeva, D, Carss, K, Smith, M, Pall, H, Lunt, P, Gressi, S D, Kamsteeg, EJ, Haack, T B, Carr, L, Guerreiro, R, Bras, J, Maher, E R, Scott, R H, Vandenberg, R J,Raymond , F L, Chong, W K, Sudhakar, S, Mankad, K, Reith, M E, Campeau, P M, Harvey, R J & Kurian, M A 2022, 'MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia', Movement Disorders, vol. 37, no. 10, pp. 2139-2146. https://doi.org/10.1002/mds.29147
Movement disorders 37(10), 2139-2146 (2022). doi:10.1002/mds.29147
Reid, K M, Spaull, R, Salian, S, Barwick, K, Meyer, E, Zhen, J, Hirata, H, Sheipouri, D, Benkerroum, H, Gorman, K M, Papandreou, A, Simpson, M A, Hirano, Y, Farabella, I, Topf, M, Grozeva, D, Carss, K, Smith, M, Pall, H, Lunt, P, Gressi, S D, Kamsteeg, EJ, Haack, T B, Carr, L, Guerreiro, R, Bras, J, Maher, E R, Scott, R H, Vandenberg, R J,
Academic Journal
Hasenahuer, Marcia A. ; Sanchis-Juan, Alba ; Laskowski, Roman A. ; Baker, James A. ; Stephenson, James D. ; Orengo, Christine A. ; Raymond, F. Lucy ; Thornton, Janet M.
In Journal of Molecular Biology 30 January 2023 435(2)
Academic Journal
Nicholas Donnelly; Adam Cunningham; Sergio Marco Salas; Matthew Bracher-Smith; Samuel Chawner; Jan Stochl; Tamsin Ford; F. Lucy Raymond; Valentina Escott-Price; Marianne B. M. van den Bree
Molecular Autism, Vol 14, Iss 1, Pp 1-13 (2023)
Academic Journal
French, Courtney E. ; Dolling, Helen ; Mégy, Karyn ; Sanchis-Juan, Alba ; Kumar, Ajay ; Delon, Isabelle ; Wakeling, Matthew ; Mallin, Lucy ; Agrawal, Shruti ; Austin, Topun ; Walston, Florence ; Park, Soo-Mi ; Parker, Alasdair ; Piyasena, Chinthika ; Bradbury, Kimberley ; Ellard, Sian ; Rowitch, David H. ; Raymond, F. Lucy
In Human Genetics and Genomics Advances 14 July 2022 3(3)
Academic Journal
McDonagh, Ellen M; Rueda, Antonio; Polychronopoulos, Dimitris; Chan, Georgia; Angus-Leppan, Heather; Bhatia, Kailash P; Davison, James E; Festenstein, Richard; Fratta, Pietro; Giunti, Paola; Howard, Robin; Venkata, Laxmi; Laurá, Matilde; McEntagart, Meriel; Menzies, Lara; Morris, Huw; Reilly, Mary M; Robinson, Robert; Rosser, Elisabeth; Faravelli, Francesca; Schrag, Anette; Schott, Jonathan M; Warner, Thomas T; Wood, Nicholas W; Bourn, David; Eggleton, Kelly; Labrum, Robyn; Twiss, Philip; Abbs, Stephen; Santos, Liana; Almheiri, Ghareesa; Sheikh, Isabella; Vandrovcova, Jana; Patch, Christine; Taylor Tavares, Ana Lisa; Hyder, Zerin; Need, Anna; Brittain, Helen; Baple, Emma; Moutsianas, Loukas; Deshpande, Viraj; Perry, Denise L; Ajay, Subramanian S.; Chawla, Aditi; Rajan, Vani; Oprych, Kathryn; Chinnery, Patrick F; Douglas, Angela; Wilson, Gill; Ellard, Sian; Temple, I Karen; Mumford, Andrew; McMullan, Dom; Naresh, Kikkeri; Flinter, Frances A; Taylor, Jenny C; Greenhalgh, Lynn; Newman, William; Brennan, Paul; Sayer, John A; Raymond, F Lucy; Chitty, Lyn S; Ambrose, John C.; Arumugam, Prabhu; Bleda, Marta; Boardman-Pretty, Freya; Boissiere, Jeanne M.; Boustred, Christopher R.; Craig, Clare E.H.; de Burca, Anna; Devereau, Andrew; Elgar, Greg; Foulger, Rebecca E.; Furió-Tarí, Pedro; Hackett, Joanne; Halai, Dina; Hamblin, Angela; Henderson, Shirley; Holman, James; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kayikci, Melis; Lahnstein, Lea; Lawson, Kay; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; Mason, Joanne; Mueller, Michael; Murugaesu, Nirupa; Odhams, Chris A.; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Riesgo-Ferreiro, Pablo; Rogers, Tim; Ryten, Mina; Savage, Kevin; Sawant, Kushmita; Siddiq, Afshan; Sieghart, Alexander; Smedley, Damian; Sosinsky, Alona; Spooner, William; Stevens, Helen E.; Stuckey, Alexander; Sultana, Razvan; Thompson, Simon R.; Tregidgo, Carolyn; Walsh, Emma; Watters, Sarah A.; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Ibañez, Kristina ; Polke, James ; Hagelstrom, R Tanner ; Dolzhenko, Egor ; Pasko, Dorota ; Thomas, Ellen Rachel Amy ; Daugherty, Louise C ; Kasperaviciute, Dalia ; Smith, Katherine R ; Deans, Zandra C ; Hill, Sue ; Fowler, Tom ; Scott, Richard H ; Hardy, John ; Houlden, Henry ; Rendon, Augusto ; Caulfield, Mark J ; Eberle, Michael A ; Taft, Ryan J ; Tucci, Arianna
In The Lancet Neurology March 2022 21(3):234-245
Academic Journal
Rhodes, Christopher J.; Batai, Ken; Bleda, Marta; Haimel, Matthias; Southgate, Laura; Germain, Marine; Pauciulo, Michael W.; Hadinnapola, Charaka; Aman, Jurjan; Girerd, Barbara; Arora, Amit; Knight, Jo; Hanscombe, Ken B.; Karnes, Jason H.; Kaakinen, Marika; Gall, Henning; Ulrich, Anna; Harbaum, Lars; Cebola, Ines; Ferrer, Jorge; Lutz, Katie; Swietlik, Emilia M.; Ahmad, Ferhaan; Amouyel, Philippe; Archer, Stephen L.; Argula, Rahul; Austin, Eric D.; Badesch, David; Bakshi, Sahil; Barnett, Christopher; Benza, Raymond; Bhatt, Nitin; Bogaard, Harm J.; Burger, Charles D.; Chakinala, Murali; Church, Colin; Coghlan, John G.; Condliffe, Robin; Corris, Paul A.; Danesino, Cesare; Debette, Stephanie; Elliott, C. Gregory; Elwing, Jean; Eyries, Melanie; Fortin, Terry; Franke, Andre; Frantz, Robert P.; Frost, Adaani; Garcia, Joe G.N.; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J. Simon R.; Harley, John; He, Hua; Hill, Nicholas S.; Hirsch, Russel; Houweling, Arjan C.; Howard, Luke S.; Ivy, Dunbar; Kiely, David G.; Klinger, James; Kovacs, Gabor; Lahm, Tim; Laudes, Matthias; Machado, Rajiv D.; Ross, Robert V. MacKenzie; Marsolo, Keith; Martin, Lisa J.; Moledina, Shahin; Montani, David; Nathan, Steven D.; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Oudiz, Ronald J.; Ouwehand, Willem H.; Peacock, Andrew J.; Pepke-Zaba, Joanna; Rehman, Zia; Robbins, Ivan; Roden, Dan M.; Rosenzweig, Erika B.; Saydain, Ghulam; Scelsi, Laura; Schilz, Robert; Seeger, Werner; Shaffer, Christian M.; Simms, Robert W.; Simon, Marc; Sitbon, Olivier; Suntharalingam, Jay; Tang, Haiyang; Tchourbanov, Alexander Y.; Thenappan, Thenappan; Torres, Fernando; Toshner, Mark R.; Treacy, Carmen M.; Noordegraaf, Anton Vonk; Waisfisz, Quinten; Walsworth, Anna K.; Walter, Robert E.; Wharton, John; White, R. James; Wilt, Jeffrey; Wort, Stephen J.; Yung, Delphine; Lawrie, Allan; Humbert, Marc; Soubrier, Florent; Tregouet, David-Alexandre; Prokopenko, Inga; Kittles, Richard; Graf, Stefan; Nichols, William C.; Trembath, Richard C.; Desai, Ankit A.; Morrell, Nicholas W.; Wilkins, Martin R.; Adlard, Julian; Ahmed, Munaza; Aitman, Tim; Alachkar, Hana; Allsup, David; Almeida-King, Jeff; Ancliff, Philip; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Ashford, Sofie; Astle, William; Attwood, Anthony; Babbs, Chris; Bakchoul, Tamam; Bariana, Tadbir; Barwell, Julian; Bennett, David; Bentley, David; Bierzynska, Agnieszka; Biss, Tina; Bogaard, Harm; Bourne, Christian; Boyce, Sara; Bradley, John; Breen, Gerome; Brennan, Paul; Brewer, Carole; Brown, Matthew; Browning, Michael; Buchan, Rachel; Buckland, Matthew; Bueser, Teofila; Burns, Siobhan; Burren, Oliver; Calleja, Paul; Carr-White, Gerald; Carss, Keren; Casey, Ruth; Caulfield, Mark; Chambers, John; Chambers, Jennifer; Cheng, Floria; Chinnery, Patrick F.; Christian, Martin; Brod, Naomi Clements; Coghlan, Gerry; Colby, Elizabeth; Cole, Trevor; Collins, Janine; Collins, Peter; Colombo, Camilla; Cook, Stuart; Cook, Terry; Cooper, Nichola; Corris, Paul; Crisp-Hihn, Abigail; Curry, Nicola; Daniels, Matthew; Daugherty, Louise; Davis, John; Deevi, Sri V.V.; Dent, Timothy; Dewhurst, Eleanor; Dixon, Peter; Downes, Kate; Drazyk, Anna; Drewe, Elizabeth; Dutt, Tina; Edgar, David; Edwards, Karen; Egner, William; Erber, Wendy; Erwood, Marie; Estiu, Maria C.; Evans, Gillian; Evans, Dafydd Gareth; Everington, Tamara; Eyries, Mlanie; Favier, Remi; Fletcher, Debra; Fox, James; Frary, Amy; French, Courtney; Freson, Kathleen; Frontini, Mattia; Gale, Daniel; Geoghegan, Claire; Gerighty, Terry; Gibbs, Simon; Gilmour, Kimberley; Goddard, Sarah; Gomez, Keith; Gordins, Pavels; Gosal, David; Grassi, Luigi; Greene, Daniel; Greenhalgh, Lynn; Greinacher, Andreas; Gresele, Paolo; Griffiths, Philip; Grigoriadou, Sofia; Grocock, Russell; Grozeva, Detelina; Hackett, Scott; Hague, William; Hall, Matthew; Hanson, Helen; Harkness, Kirsty; Harper, Andrew; Harris, Claire; Hart, Daniel; Hassan, Ahamad; Hayman, Grant; Henderson, Alex; Hoffmann, Jonathan; Horvath, Rita; Houweling, Arjan; Howard, Luke; Hu, Fengyuan; Hudson, Gavin; Hughes, Joseph; Huissoon, Aarnoud; Humphray, Sean; Hunter, Sarah; Hurles, Matthew; Izatt, Louise; James, Roger; Johnson, Sally; Jolles, Stephen; Jolley, Jennifer; Jurkute, Neringa; Kasanicki, Mary; Kazkaz, Hanadi; Kazmi, Rashid; Kelleher, Peter; Kiely, David; Kingston, Nathalie; Klima, Robert; Kostadima, Myrto; Koziell, Ania; Kreuzhuber, Roman; Kuijpers, Taco; Kumar, Ajith; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael; Lalloo, Fiona; Lambert, Michele; Allen, Hana Lango; Layton, Mark; Lentaigne, Claire; Levine, Adam; Linger, Rachel; Longhurst, Hilary; Louka, Eleni; Ross, Robert MacKenzie; Madan, Bella; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Mapeta, Rutendo; Marchbank, Kevin; Marks, Stephen; Markus, Hugh S.; Marschall, Hanns-Ulrich; Marshall, Andrew; Martin, Jennifer; Mathias, Mary; Matthews, Emma; Maxwell, Heather; McAlinden, Paul; McCarthy, Mark; Meacham, Stuart; Mead, Adam; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn; Moore, Tony; Morrell, Nicholas; Mozere, Monika; Muir, Keith; Mumford, Andrew; O'Sullivan, Jennifer; Obaji, Samya; Okoli, Steven; Ong, Kai Ren; Ormondroyd, Elizabeth; Ouwehand, Willem; Papadia, Sofia; Park, Soo-Mi; Parry, David; Paterson, Joan; Peacock, Andrew; Peden, John; Peerlinck, Kathelijne; Penkett, Christopher; Petersen, Romina; Pyle, Angela; Rankin, Stuart; Rao, Anupama; Raymond, F. Lucy; Rayner-Matthews, Paula; Rees, Christine; Rendon, Augusto; Renton, Tara; Rice, Andrew; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Roughley, Catherine; Roy, Noemi; Sadeghi-Alavijeh, Omid; Saleem, Moin; Samani, Nilesh; Sanchis-Juan, Alba; Sargur, Ravishankar; Satchell, Simon; Savic, Sinisa; Schulman, Sol; Scully, Marie; Searle, Claire; Sewell, Carrock; Seyres, Denis; Shapiro, Susie; Sharmardina, Olga; Shtoyerman, Rakefet; Sibson, Keith; Side, Lucy; Simeoni, Ilenia; Simpson, Michael; Sivapalaratnam, Suthesh; Skytte, Anne-Bine; Smith, Katherine; Smith, Kenneth G.C.; Snape, Katie; Staines, Simon; Staples, Emily; Stark, Hannah; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Swietlik, Emilia; Tait, R. 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Lancet Respir Med
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Klöckner, Chiara ; Sticht, Heinrich ; Zacher, Pia ; Popp, Bernt ; Babcock, Holly E. ; Bakker, Dewi P. ; Barwick, Katy ; Bonfert, Michaela V. ; Bönnemann, Carsten G. ; Brilstra, Eva H. ; Chung, Wendy K. ; Clarke, Angus J. ; Devine, Patrick ; Donkervoort, Sandra ; Fraser, Jamie L. ; Friedman, Jennifer ; Gates, Alyssa ; Ghoumid, Jamal ; Hobson, Emma ; Horvath, Gabriella ; Keller-Ramey, Jennifer ; Keren, Boris ; Kurian, Manju A. ; Lee, Virgina ; Leppig, Kathleen A. ; Lundgren, Johan ; McDonald, Marie T. ; McLaughlin, Heather M. ; McTague, Amy ; Mefford, Heather C. ; Mignot, Cyril ; Mikati, Mohamad A. ; Nava, Caroline ; Raymond, F. Lucy ; Sampson, Julian R. ; Sanchis-Juan, Alba ; Shashi, Vandana ; Shieh, Joseph T.C. ; Shinawi, Marwan ; Slavotinek, Anne ; Stödberg, Tommy ; Stong, Nicholas ; Sullivan, Jennifer A. ; Taylor, Ashley C. ; Toler, Tomi L. ; van den Boogaard, Marie-José ; van der Crabben, Saskia N. ; van Gassen, Koen L.I. ; van Jaarsveld, Richard H. ; Van Ziffle, Jessica ; Wadley, Alexandrea F. ; Wagner, Matias ; Wigby, Kristen ; Wortmann, Saskia B. ; Zarate, Yuri A. ; Møller, Rikke S. ; Lemke, Johannes R. ; Platzer, Konrad
In Genetics in Medicine April 2021 23(4):653-660
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Academic Journal
Neringa Jurkute; Francesca Cancellieri; Lisa Pohl; Catherina H. Z. Li; Robert A. Heaton; Janine Reurink; James Bellingham; Mathieu Quinodoz; Georgia Yioti; Maria Stefaniotou; Marianna Weener; Theresia Zuleger; Tobias B. Haack; Katarina Stingl; Genomics England Research Consortium; Carel B. Hoyng; Omar A. Mahroo; Iain Hargreaves; F. Lucy Raymond; Michel Michaelides; Carlo Rivolta; Susanne Kohl; Susanne Roosing; Andrew R. Webster; Gavin Arno
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Academic Journal
Hong Joo Kim; Payam Mohassel; Sandra Donkervoort; Lin Guo; Kevin O’Donovan; Maura Coughlin; Xaviere Lornage; Nicola Foulds; Simon R. Hammans; A. Reghan Foley; Charlotte M. Fare; Alice F. Ford; Masashi Ogasawara; Aki Sato; Aritoshi Iida; Pinki Munot; Gautam Ambegaonkar; Rahul Phadke; Dominic G. O’Donovan; Rebecca Buchert; Mona Grimmel; Ana Töpf; Irina T. Zaharieva; Lauren Brady; Ying Hu; Thomas E. Lloyd; Andrea Klein; Maja Steinlin; Alice Kuster; Sandra Mercier; Pascale Marcorelles; Yann Péréon; Emmanuelle Fleurence; Adnan Manzur; Sarah Ennis; Rosanna Upstill-Goddard; Luca Bello; Cinzia Bertolin; Elena Pegoraro; Leonardo Salviati; Courtney E. French; Andriy Shatillo; F. Lucy Raymond; Tobias B. Haack; Susana Quijano-Roy; Johann Böhm; Isabelle Nelson; Tanya Stojkovic; Teresinha Evangelista; Volker Straub; Norma B. Romero; Jocelyn Laporte; Francesco Muntoni; Ichizo Nishino; Mark A. Tarnopolsky; James Shorter; Carsten G. Bönnemann; J. Paul Taylor
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
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de Bruijn, Suzanne E. ; Fiorentino, Alessia ; Ottaviani, Daniele ; Fanucchi, Stephanie ; Melo, Uirá S. ; Corral-Serrano, Julio C. ; Mulders, Timo ; Georgiou, Michalis ; Rivolta, Carlo ; Pontikos, Nikolas ; Arno, Gavin ; Roberts, Lisa ; Greenberg, Jacquie ; Albert, Silvia ; Gilissen, Christian ; Aben, Marco ; Rebello, George ; Mead, Simon ; Raymond, F. Lucy ; Corominas, Jordi ; Smith, Claire E.L. ; Kremer, Hannie ; Downes, Susan ; Black, Graeme C. ; Webster, Andrew R. ; Inglehearn, Chris F. ; van den Born, L. Ingeborgh ; Koenekoop, Robert K. ; Michaelides, Michel ; Ramesar, Raj S. ; Hoyng, Carel B. ; Mundlos, Stefan ; Mhlanga, Musa M. ; Cremers, Frans P.M. ; Cheetham, Michael E. ; Roosing, Susanne ; Hardcastle, Alison J.
In The American Journal of Human Genetics 5 November 2020 107(5):802-814
Academic Journal
Fasham, James; Arno, Gavin; Lin, Siying; Xu, Mingchu; Carss, Keren J; Hull, Sarah; Lane, Amelia; Robson, Anthony G; Wenger, Olivia; Self, Jay E; Harlalka, Gaurav V; Salter, Claire G; Schema, Lynn; Moss, Timothy J; Cheetham, Michael E; Moore, Anthony T; Raymond, F Lucy; Chen, Rui; Baple, Emma L; Webster, Andrew R; Crosby, Andrew H; Consortium, NIHR Bioresource Rare Diseases
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Fasham, J, Arno, G, Lin, S, Xu, M, Carss, K J, Hull, S, Lane, A, Robson, A G, Wenger, O, Self, J E, Harlalka, G V, Salter, C G, Schema, L, Moss, T J, Cheetham, M E, Moore, A T,Raymond , F L, Chen, R, Baple, E L, Webster, A R & Crosby, A H 2019, ' Delineating the expanding phenotype associated with SCAPER gene mutation ', American Journal of Medical Genetics Part A, vol. 179, no. 8, pp. 1665-1671 . https://doi.org/10.1002/ajmg.a.61202
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Fasham, J, Arno, G, Lin, S, Xu, M, Carss, K J, Hull, S, Lane, A, Robson, A G, Wenger, O, Self, J E, Harlalka, G V, Salter, C G, Schema, L, Moss, T J, Cheetham, M E, Moore, A T,
American Journal of Medical Genetics Part A, vol 179, iss 8
Academic Journal
Adhya, Zoe; Alachkar, Hana; Anantharachagan, Ariharan; Antrobus, Richard; Arumugakani, Gururaj; Ashford, Sofie; Astle, William J.; Attwood, Anthony; Bacchelli, Chiara; Batista, Joana; Baxendale, Helen E.; Bethune, Claire; Bibi, Shahnaz; Bleda, Marta; Boardman, Barbara; Booth, Claire; Bradley, John R.; Breen, Gerome; Brown, Matthew; Browning, Michael J.; Brownlie, Mary; Buckland, Matthew S.; Burns, Siobhan O.; Burren, Oliver S.; Carss, Keren; Chambers, John; Chandra, Anita; Brod, Naomi Clements; Clifford, Hayley; Cooper, Nichola; Daugherty, Louise C.; Davies, E.G.; Davies, Sophie; Davis, John; Deacock, Sarah; Deevi, Sri V.V.; Dempster, John; Devlin, Lisa A.; Dewhurst, Eleanor F.; Downes, Kate; Drewe, Elizabeth; Duarte, Daniel; Edgar, J. David M.; Edwards, Karen; Egner, William; El-Shanawany, Tariq; Erwood, Marie; Fletcher, Debra; Fox, James; Frary, Amy J.; Frontini, Mattia; Furnell, Abigail; Gaspar, H. Bobby; Ghurye, Rohit; Gilmour, Kimberly C.; Gleadall, Nicholas S.; Goddard, Sarah; Gordins, Pavels; Gräf, Stefan; Grassi, Luigi; Greene, Daniel; Grigoriadou, Sofia; Hackett, Scott; Hague, Rosie; Haimel, Matthias; Harper, Lorraine; Hayman, Grant; Herwadkar, Archana; Hu, Fengyuan; Hughes, Stephen; Huissoon, Aarnoud P.; James, Roger; Jolles, Stephen; Jolley, Jennifer; Jones, Julie; Karim, Yousuf; Kasanicki, Mary A.; Kelleher, Peter; Kempster, Carly; Kiani, Sorena; Kingston, Nathalie; Klein, Nigel; Kostadima, Myrto; Kreuzhuber, Roman; Kuijpers, Taco W.; Kumararatne, Dinakantha; Laffan, James; Allen, Hana Lango; Lear, Sara E.; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena E.; Lyons, Paul A.; Maimaris, Jesmeen; Manson, Ania; Mapeta, Rutendo; Martin, Jennifer; McCarthy, Mark I.; McDermott, Elizabeth M.; McKinney, Harriet; Meacham, Stuart; Megy, Karyn; Millar, Hazel; Mistry, Anoop; Morrisson, Valerie; Murng, Sai H.K.; Nasir, Iman; Nejentsev, Sergey; Noorani, Sadia; Oksenhendler, Eric; Ouwehand, Willem H.; Papadia, Sofia; Penkett, Christopher J.; Petersen, Romina; Ponsford, Mark J.; Qasim, Waseem; Quinn, Ellen; Quinti, Isabella; Raymond, F. Lucy; Rayner-Matthews, Paula J.; Richter, Alex; Samani, Nilesh; Samarghitean, Crina; Sanchis-Juan, Alba; Sargur, Ravishankar B.; Savic, Sinisa; Seneviratne, Suranjith L.; Sewell, W.A. Carrock; Seyres, Denis; Shackley, Fiona; Shamardina, Olga; Simeoni, Ilenia; Simpson, Michael A.; Smith, Kenneth G.C.; Staines, Simon; Staples, Emily; Stark, Hannah; Stauss, Hans; Steele, Cathal L.; Stephens, Jonathan; Stirrups, Kathleen E.; Thaventhiran, James E.; Thomas, David; Thomas, Moira J.; Thomas, Patrick; Thrasher, Adrian J.; Tilly, Tobias; Titterton, Catherine; Treadaway, Paul; Tuna, Salih; Turro, Ernest; Urniaz, Rafal; von Ziegenweidt, Julie; Walker, Neil; Watt, Christopher; Welch, Steven B.; Whitehorn, Deborah; Willcocks, Lisa; Wood, Nicholas; Wood, Yvette; Workman, Sarita; Worth, Austen; Yates, Katherine; Yeatman, Nigel; Yong, Patrick F.K.; Young, Timothy; Yu, Ping; Zlamalova, Eliska; Lorenzini, Tiziana ; Fliegauf, Manfred ; Klammer, Nils ; Frede, Natalie ; Proietti, Michele ; Bulashevska, Alla ; Camacho-Ordonez, Nadezhda ; Varjosalo, Markku ; Kinnunen, Matias ; de Vries, Esther ; van der Meer, Jos W.M. ; Ameratunga, Rohan ; Roifman, Chaim M. ; Schejter, Yael D. ; Kobbe, Robin ; Hautala, Timo ; Atschekzei, Faranaz ; Schmidt, Reinhold E. ; Schröder, Claudia ; Stepensky, Polina ; Shadur, Bella ; Pedroza, Luis A. ; van der Flier, Michiel ; Martínez-Gallo, Mónica ; Gonzalez-Granado, Luis Ignacio ; Allende, Luis M. ; Shcherbina, Anna ; Kuzmenko, Natalia ; Zakharova, Victoria ; Neves, João Farela ; Svec, Peter ; Fischer, Ute ; Ip, Winnie ; Bartsch, Oliver ; Barış, Safa ; Klein, Christoph ; Geha, Raif ; Chou, Janet ; Alosaimi, Mohammed ; Weintraub, Lauren ; Boztug, Kaan ; Hirschmugl, Tatjana ; Dos Santos Vilela, Maria Marluce ; Holzinger, Dirk ; Seidl, Maximilian ; Lougaris, Vassilios ; Plebani, Alessandro ; Alsina, Laia ; Piquer-Gibert, Monica ; Deyà-Martínez, Angela ; Slade, Charlotte A. ; Aghamohammadi, Asghar ; Abolhassani, Hassan ; Hammarström, Lennart ; Kuismin, Outi ; Helminen, Merja ; Freeman, Alexandra F. ; Cook, Matthew ; Bakhtiar, Shahrzad ; Christiansen, Mette ; Cunningham-Rundles, Charlotte ; Patel, Niraj C. ; Rae, William ; Niehues, Tim ; Brauer, Nina ; Syrjänen, Jaana ; Seppänen, Mikko R.J. ; Tuijnenburg, Paul ; Warnatz, Klaus ; Grimbacher, Bodo
In The Journal of Allergy and Clinical Immunology October 2020 146(4):901-911
Academic Journal
Baker, Kate; Devine, Rory T; Ng-Cordell, Elise; Raymond, F Lucy; IMAGINE-ID Consortium; Hughes, Claire
The British Journal of Psychiatry. 218:315-322
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