학술논문
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'학술논문'
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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
Academic Journal
Lindsey Van Haute; Petra Páleníková; Jia Xin Tang; Pavel A Nash; Mariella T Simon; Angela Pyle; Monika Oláhová; Christopher A Powell; Pedro Rebelo-Guiomar; Alexander Stover; Michael Champion; Charulata Deshpande; Emma L Baple; Karen L Stals; Sian Ellard; Olivia Anselem; Clémence Molac; Giulia Petrilli; Laurence Loeuillet; Sarah Grotto; Tania Attie-Bitach; Jose E Abdenur; Robert W Taylor; Michal Minczuk
EMBO Mol Med
EMBO Molecular Medicine, Vol 17, Iss 1, Pp 193-210 (2024)
EMBO Molecular Medicine, Vol 17, Iss 1, Pp 193-210 (2024)
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
Ellard, Sian; Morgan, Sian; Wynn, Sarah L.; Walker, Susan; Parrish, Andrew; Mein, Rachael; Juett, Ana; Ahn, Joo Wook; Berry, Ian; Cassidy, Emma Jane; Durkie, Miranda; Fish, Louise; Hall, Richard; Howard, Emma; Rankin, Julia; Wright, Caroline F.; Deans, Zandra C.; Scott, Richard H.; Hill, Sue L.; Baple, Emma L.; Taylor, Robert W.; Baty, David; Berg, Jonathan; Blair, Edward; Bowdin, Sarah; Bownass, Lucy; Bradley, Therese; Campbell, Jennifer; Charlton, Ruth; Clouston, Penny; Constantinou, Panayiotis; Cooper, Nicola; Delon, Isabelle; Downes, Kate; Ellis, David; Elmslie, Frances; Ghali, Neeti; Hagan, Richard; Heggarty, Shirley; Higgs, Jennifer; Hunt, David; Jenkins, Lucy; McAnulty, Ciaron; McCann, Emma; McDevitt, Trudi; McMullan, Dominic; Miedzybrodzka, Zosia; Moore, David; Newman, William; O'Sullivan, Dawn; Parker, Michael; Porteous, Mary; Ramsden, Simon; Rea, Gillian; Ruddy, Deborah; Ryan, Gavin; Sarkar, Ajoy; Sheridan, Eamonn; Short, John; Thomas, Ellen; Thomas, Simon; Varghese, Vinod; Vasudevan, Pradeep; Wakeling, Emma; Williams, Angharad; Wright, Michael
J Med Genet
Academic Journal
Carlsson, Annelie; Shepherd, Maggie; Ellard, Sian; Weedon, Michael; Lernmark, Ake; Forsander, Gun; Colclough, Kevin; Brahimi, Qefsere; Valtonen-Andre, Camilla; Ivarsson, Sten A.; Elding Larsson, Helena; Samuelsson, Ulf, 1951; Ortqvist, Eva; Groop, Leif; Ludvigsson, Johnny, 1943; Marcus, Claude; Hattersley, Andrew T.
Diabetes Care. 43(1):82-89
Academic Journal
Walker, Susan ; Bunyan, David J. ; Thomas, Huw B. ; Kesim, Yesim ; Kershaw, Christopher J. ; Holloway, John ; Wai, Htoo ; Day, Michael ; Smith, Cassandra L. ; Hawkes, Gareth ; Wood, Andrew R. ; Weedon, Michael N. ; Blair, Ed ; Curtis, Stephanie L. ; Fielden, Catherine ; Evans, Julie ; Whittington, Rebecca ; Smithson, Sarah F. ; Cox, Helen ; Clift, Paul ; McEntagart, Meriel ; Prapa, Matina ; Alsters, Suzanne ; Morris-Rosendahl, Deborah ; Dean, John ; Morrison, Patrick J. ; Dixit, Abhijit ; Sarkar, Ajoy ; Prescott, Katrina ; Amel Riazat Kesh, Leila ; Tharakan, Riya ; Turner, Claire ; Ellard, Sian ; Shaw-Smith, Charles ; Fasham, James ; Clowes, Virginia ; Holden, Simon ; Somarathi, Suresh ; Mercer, Catherine ; Berry, Ian ; O’Keefe, Raymond T. ; Banka, Siddharth ; Baralle, Diana ; Thomas, N. Simon ; Baple, Emma L. ; Taylor, Jenny C. ; Pagnamenta, Alistair T.
In Genetics in Medicine September 2025 27(9)
Academic Journal
Szenker-Ravi, Emmanuelle ; Ott, Tim ; Yusof, Amirah ; Chopra, Maya ; Khatoo, Muznah ; Pak, Beatrice ; Xuan Goh, Wei ; Beckers, Anja ; Brady, Angela F. ; Ewans, Lisa J. ; Djaziri, Nabila ; Almontashiri, Naif A.M. ; Alghamdi, Malak Ali ; Alharby, Essa ; Dasouki, Majed ; Romo, Lindsay ; Tan, Wen-Hann ; Maddirevula, Sateesh ; Alkuraya, Fowzan S. ; Giordano, Jessica L. ; Alkelai, Anna ; Wapner, Ronald J. ; Stals, Karen ; Alfadhel, Majid ; Alswaid, Abdulrahman Faiz ; Bogusch, Susanne ; Schafer-Kosulya, Anna ; Vogel, Sebastian ; Vick, Philipp ; Schweickert, Axel ; Wakeling, Matthew ; Moreau de Bellaing, Anne ; Alshamsi, Aisha M. ; Sanlaville, Damien ; Mbarek, Hamdi ; Saad, Chadi ; Ellard, Sian ; Eisenhaber, Frank ; Tripolszki, Kornelia ; Beetz, Christian ; Bauer, Peter ; Gossler, Achim ; Eisenhaber, Birgit ; Blum, Martin ; Bouvagnet, Patrice ; Bertoli-Avella, Aida ; Amiel, Jeanne ; Gordon, Christopher T. ; Reversade, Bruno
In The American Journal of Human Genetics 6 February 2025 112(2):353-373
Academic Journal
Baple, Emma L.; Scott, Richard H.; Banka, Siddharth; Buchanan, James; Fish, Louise; Wynn, Sarah; Wilkinson, Dominic; Ellard, Sian; MacArthur, Daniel G.; Stark, Zornitza
Nature Medicine. 30(7):1823-1825
Academic Journal
Pagnamenta, Alistair T. ; Yu, Jing ; Walker, Susan ; Noble, Alexandra J. ; Lord, Jenny ; Dutta, Prasun ; Hashim, Mona ; Camps, Carme ; Green, Hannah ; Devaiah, Smrithi ; Nashef, Lina ; Parr, Jason ; Fratter, Carl ; Ibnouf Hussein, Rana ; Lindsay, Sarah J. ; Lalloo, Fiona ; Banos-Pinero, Benito ; Evans, David ; Mallin, Lucy ; Waite, Adrian ; Evans, Julie ; Newman, Andrew ; Allen, Zoe ; Perez-Becerril, Cristina ; Ryan, Gavin ; Hart, Rachel ; Taylor, John ; Bedenham, Tina ; Clement, Emma ; Blair, Ed ; Hay, Eleanor ; Forzano, Francesca ; Higgs, Jenny ; Canham, Natalie ; Majumdar, Anirban ; McEntagart, Meriel ; Lahiri, Nayana ; Stewart, Helen ; Smithson, Sarah ; Calpena, Eduardo ; Jackson, Adam ; Banka, Siddharth ; Titheradge, Hannah ; McGowan, Ruth ; Rankin, Julia ; Shaw-Smith, Charles ; Evans, D. Gareth ; Burghel, George J. ; Smith, Miriam J. ; Anderson, Emily ; Madhu, Rajesh ; Firth, Helen ; Ellard, Sian ; Brennan, Paul ; Anderson, Claire ; Taupin, Doug ; Rogers, Mark T. ; Cook, Jackie A. ; Durkie, Miranda ; East, James E. ; Fowler, Darren ; Wilson, Louise ; Igbokwe, Rebecca ; Gardham, Alice ; Tomlinson, Ian ; Baralle, Diana ; Uhlig, Holm H. ; Taylor, Jenny C.
In The American Journal of Human Genetics 6 June 2024 111(6):1140-1164
Academic Journal
De Franco, Elisa; Owens, Nick D. L.; Montaser, Hossam; Wakeling, Matthew N.; Saarimäki-Vire, Jonna; Triantou, Athina; Ibrahim, Hazem; Balboa, Diego; Caswell, Richard C.; Jennings, Rachel E.; Kvist, Jouni A.; Johnson, Matthew B.; Muralidharan, Sachin; Ellard, Sian; Wright, Caroline F.; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Hanley, Neil A.; Flanagan, Sarah E.; Otonkoski, Timo; Hattersley, Andrew T.; Imbeault, Michael
Nature Genetics. 55(12):2075-2081
Academic Journal
Adamo, Christin S; Beyens, Aude; Schiavinato, Alvise; Keene, Douglas R; Tufa, Sara F; Mörgelin, Matthias; Brinckmann, Jürgen; Sasaki, Takako; Niehoff, Anja; Dreiner, Maren; Pottie, Lore; Muiño-Mosquera, Laura; Gulec, Elif Yilmaz; Gezdirici, Alper; Braghetta, Paola; Bonaldo, Paolo; Wagener, Raimund; Paulsson, Mats; Bornaun, Helen; De Rycke, Riet; De Bruyne, Michiel; Baeke, Femke; Devine, Walter P; Gangaram, Balram; Tam, Allison; Balasubramanian, Meena; Ellard, Sian; Moore, Sandra; Symoens, Sofie; Shen, Joseph; Cole, Stacey; Schwarze, Ulrike; Holmes, Kathryn W; Hayflick, Susan J; Wiszniewski, Wojciech; Nampoothiri, Sheela; Davis, Elaine C; Sakai, Lynn Y; Sengle, Gerhard; Callewaert, Bert
American journal of human genetics, vol 109, iss 12
AMERICAN JOURNAL OF HUMAN GENETICS
AMERICAN JOURNAL OF HUMAN GENETICS
Academic Journal
Biesecker, Leslie G.; Harrison, Steven M.; Tayoun, Ahmad A.; Berg, Jonathan S.; Brenner, Steven E.; Cutting, Garry R.; Ellard, Sian; Greenblatt, Marc S.; Kang, Peter; Karbassi, Izabela; Karchin, Rachel; Mester, Jessica; O’Donnell-Luria, Anne; Pesaran, Tina; Plon, Sharon E.; Rehm, Heidi L.; Strande, Natasha T.; Tavtigian, Sean V.; Topper, Scott; Walker, Logan C. ; Hoya, Miguel de la ; Wiggins, George A.R. ; Lindy, Amanda ; Vincent, Lisa M. ; Parsons, Michael T. ; Canson, Daffodil M. ; Bis-Brewer, Dana ; Cass, Ashley ; Tchourbanov, Alexander ; Zimmermann, Heather ; Byrne, Alicia B. ; Karam, Rachid ; Spurdle, Amanda B.
In The American Journal of Human Genetics 6 July 2023 110(7):1046-1067
Academic Journal
Twohig, Katherine A; Nyberg, Tommy; Zaidi, Asad; Thelwall, Simon; Sinnathamby, Mary A; Aliabadi, Shirin; Seaman, Shaun R; Harris, Ross J; Hope, Russell; Lopez-Bernal, Jamie; Gallagher, Eileen; Charlett, Andre; De Angelis, Daniela; Presanis, Anne M; Dabrera, Gavin; Koshy, Cherian; Ash, Amy; Wise, Emma; Moore, Nathan; Mori, Matilde; Cortes, Nick; Lynch, Jessica; Kidd, Stephen; Fairley, Derek; Curran, Tanya; McKenna, James; Adams, Helen; Fraser, Christophe; Golubchik, Tanya; Bonsall, David; Hassan-Ibrahim, Mohammed; Malone, Cassandra; Cogger, Benjamin; 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; Fuller, William; Bresner, Catherine; Snell, Luke; Patel, Amita; Charalampous, Themoula; Nebbia, Gaia; Batra, Rahul; Edgeworth, Jonathan; Robson, Samuel; Beckett, Angela; Aanensen, David; Underwood, Anthony; Yeats, Corin; Abudahab, Khalil; Taylor, Ben; Menegazzo, Mirko; Clark, Gemma; Smith, Wendy; Khakh, Manjinder; Fleming, Vicki; Lister, Michelle; Howson-Wells, Hannah; 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; Holmes, Nadine; Moore, Christopher; Carlile, Matthew; Wright, Victoria; Sang, Fei; Debebe, Johnny; Coll, Francesc; Signell, Adrian; Betancor, Gilberto; Wilson, Harry; Eldirdiri, Sahar; Kenyon, Anita; Davis, Thomas; Pybus, Oliver; du Plessis, Louis; Zarebski, Alex; Raghwani, Jayna; Kraemer, Moritz; Francois, Sarah; Attwood, Stephen; Vasylyeva, Tetyana; Escalera Zamudio, Marina; Gutierrez, Bernardo; Torok, M. Estee; Hamilton, William; Goodfellow, Ian; Hall, Grant; Jahun, Aminu; Chaudhry, Yasmin; Hosmillo, Myra; Pinckert, Malte; Georgana, Iliana; Moses, Samuel; Lowe, Hannah; Bedford, Luke; Moore, Jonathan; Stonehouse, Susanne; Fisher, Chloe; Awan, Ali; BoYes, John; Breuer, Judith; Harris, Kathryn; Brown, Julianne; Shah, Divya; Atkinson, Laura; Lee, Jack; Storey, Nathaniel; Flaviani, Flavia; Alcolea-Medina, Adela; Williams, Rebecca; Vernet, Gabrielle; Chapman, Michael; Levett, Lisa; Heaney, Judith; Chatterton, Wendy; Pusok, Monika; Xu-McCrae, Li; Smith, Darren; Bashton, Matthew; Young, Gregory; Holmes, Alison; Randell, Paul; Cox, Alison; Madona, Pinglawathee; Bolt, Frances; Price, James; Mookerjee, Siddharth; Ragonnet-Cronin, Manon; F. Nascimento, Fabricia; Jorgensen, David; Siveroni, Igor; Johnson, Rob; Boyd, Olivia; Geidelberg, Lily; Volz, Erik; Rowan, Aileen; Taylor, Graham; Smollett, Katherine; Loman, Nicholas; Quick, Joshua; McMurray, Claire; Stockton, Joanne; Nicholls, Sam; Rowe, Will; Poplawski, Radoslaw; McNally, Alan; Martinez Nunez, Rocio; Mason, Jenifer; Robinson, Trevor; O'Toole, Elaine; Watts, Joanne; Breen, Cassie; Cowell, Angela; Sluga, Graciela; Machin, Nicholas; Ahmad, Shazaad; George, Ryan; Halstead, Fenella; Sivaprakasam, Venkat; Hogsden, Wendy; Illingworth, Chris; Jackson, Chris; Thomson, Emma; Shepherd, James; Asamaphan, Patawee; Niebel, Marc; Li, Kathy; Shah, Rajiv; Jesudason, Natasha; Tong, Lily; Broos, Alice; Mair, Daniel; Nichols, Jenna; Carmichael, Stephen; Nomikou, Kyriaki; Aranday-Cortes, Elihu; Johnson, Natasha; Starinskij, Igor; da Silva Filipe, Ana; Robertson, David; Orton, Richard; Hughes, Joseph; Vattipally, Sreenu; Singer, Joshua; Nickbakhsh, Seema; Hale, Antony; Macfarlane-Smith, Louissa; Harper, Katherine; Carden, Holli; Taha, Yusri; Payne, Brendan; Burton-Fanning, Shirelle; Waugh, Sheila; Collins, Jennifer; Eltringham, Gary; Rushton, Steven; O'Brien, Sarah; Bradley, Amanda; Maclean, Alasdair; Mollett, Guy; Blacow, Rachel; Templeton, Kate; McHugh, Martin; Dewar, Rebecca; Wastenge, Elizabeth; Dervisevic, Samir; Stanley, Rachael; Meader, Emma; Coupland, Lindsay; Smith, Louise; Graham, Clive; Barton, Edward; Padgett, Debra; Scott, Garren; Swindells, Emma; Greenaway, Jane; Nelson, Andrew; McCann, Clare; Yew, Wen; Andersson, Monique; Peto, Timothy; Justice, Anita; Eyre, David; Crook, Derrick; Sloan, Tim; Duckworth, Nichola; Walsh, Sarah; Chauhan, Anoop; Glaysher, Sharon; Bicknell, Kelly; Wyllie, Sarah; Elliott, Scott; Lloyd, Allyson; Impey, Robert; Levene, Nick; Monaghan, Lynn; Bradley, Declan; Wyatt, Tim; Allara, Elias; Pearson, Clare; Osman, Husam; Bosworth, Andrew; Robinson, Esther; Muir, Peter; Vipond, Ian; Hopes, Richard; Pymont, Hannah; Hutchings, Stephanie; Curran, Martin; Parmar, Surendra; Lackenby, Angie; Mbisa, Tamyo; Platt, Steven; Miah, Shahjahan; Bibby, David; Manso, Carmen; Hubb, Jonathan; Chand, Meera; Ramsay, Mary; Bradshaw, Daniel; Thornton, Alicia; Myers, Richard; Schaefer, Ulf; Groves, Natalie; Lee, David; Williams, David; Ellaby, Nicholas; Harrison, Ian; Hartman, Hassan; Manesis, Nikos; Patel, Vineet; Bishop, Chloe; Chalker, Vicki; Ledesma, Juan; Twohig, Katherine; Holden, Matthew; 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; 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; Mather, Alison; Baker, David; Rudder, Steven; Aydin, Alp; Kay, Gemma; Trotter, Alexander; Alikhan, Nabil-Fareed; de Oliveira Martins, Leonardo; Le-Viet, Thanh; Meadows, Lizzie; Casey, Anna; Ratcliffe, Liz; Simpson, David; Molnar, Zoltan; Thompson, Thomas; Acheson, Erwan; Masoli, Jane; Knight, Bridget; Ellard, Sian; Auckland, Cressida; Jones, Christopher; Mahungu, Tabitha; Irish-Tavares, Dianne; Haque, Tanzina; Hart, Jennifer; Witele, Eric; Fenton, Melisa; Dadrah, Ashok; Symmonds, Amanda; Saluja, Tranprit; Bourgeois, Yann; Scarlett, Garry; Loveson, Katie; Goudarzi, Salman; Fearn, Christopher; Cook, Kate; Dent, Hannah; Paul, Hannah; Partridge, David; Raza, Mohammad; Evans, Cariad; Johnson, Kate; Liggett, Steven; Baker, Paul; Bonner, Stephen; Essex, Sarah; Lyons, Ronan; Saeed, Kordo; Mahanama, Adhyana; Samaraweera, Buddhini; Silveira, Siona; Pelosi, Emanuela; Wilson-Davies, Eleri; Williams, Rachel; Kristiansen, Mark; Roy, Sunando; Williams, Charlotte; Cotic, Marius; Bayzid, Nadua; Westhorpe, Adam; Hartley, John; Jannoo, Riaz; Lowe, Helen; Karamani, Angeliki; Ensell, Leah; Prieto, Jacqui; 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; Bucca, Giselda; Hesketh, Andrew; Blane, Beth; Girgis, Sophia; Leek, Danielle; Sridhar, Sushmita; Forrest, Sally; Cormie, Claire; Gill, Harmeet; Dias, Joana; Higginson, Ellen; Maes, Mailis; Young, Jamie; Kermack, Leanne; Gupta, Ravi; Ludden, Catherine; Peacock, Sharon; Palmer, Sophie; Churcher, Carol; Hadjirin, Nazreen; Carabelli, Alessandro; Brooks, Ellena; Smith, Kim; Galai, Katerina; McManus, Georgina; Ruis, Chris; Davidson, Rose; Rambaut, Andrew; Williams, Thomas; Balcazar, Carlos; Gallagher, Michael; O'Toole, Áine; Rooke, Stefan; Hill, Verity; Williamson, Kathleen; Stanton, Thomas; Michell, Stephen; Bewshea, Claire; Temperton, Ben; Michelsen, Michelle; Warwick-Dugdale, Joanna; Manley, Robin; Farbos, Audrey; Harrison, James; Sambles, Christine; Studholme, David; Jeffries, Aaron; Jackson, Leigh; Darby, Alistair; Hiscox, Julian; Paterson, Steve; Iturriza-Gomara, Miren; Jackson, Kathryn; Lucaci, Anita; Vamos, Edith; Hughes, Margaret; Rainbow, Lucille; Eccles, Richard; Nelson, Charlotte; Whitehead, Mark; Turtle, Lance; Haldenby, Sam; Gregory, Richard; Gemmell, Matthew; Wierzbicki, Claudia; Webster, Hermione; de Silva, Thushan; Smith, Nikki; Angyal, Adrienn; Lindsey, Benjamin; Groves, Danielle; Green, Luke; Wang, Dennis; Freeman, Timothy; Parker, Matthew; Keeley, Alexander; Parsons, Paul; Tucker, Rachel; Brown, Rebecca; Wyles, Matthew; Whiteley, Max; Zhang, Peijun; Gallis, Marta; Louka, Stavroula; Constantinidou, Chrystala; Unnikrishnan, Meera; Ott, Sascha; Cheng, Jeffrey; Bridgewater, Hannah; Frost, Lucy; Taylor-Joyce, Grace; Stark, Richard; Baxter, Laura; Alam, Mohammad; Brown, Paul; Aggarwal, Dinesh; Cerda, Alberto; Merrill, Tammy; Wilson, Rebekah; McClure, Patrick; Chappell, Joseph; Tsoleridis, Theocharis; Ball, Jonathan; Buck, David; Todd, John; Green, Angie; Trebes, Amy; MacIntyre-Cockett, George; de Cesare, Mariateresa; Alderton, Alex; Amato, Roberto; Ariani, Cristina; Beale, Mathew; Beaver, Charlotte; Bellis, Katherine; Betteridge, Emma; Bonfield, James; Danesh, John; Dorman, Matthew; Drury, Eleanor; Farr, Ben; Foulser, Luke; Goncalves, Sonia; Goodwin, Scott; Gourtovaia, Marina; Harrison, Ewan; Jackson, David; Jamrozy, Dorota; Johnston, Ian; Kane, Leanne; Kay, Sally; Keatley, Jon-Paul; Kwiatkowski, Dominic; Langford, Cordelia; Lawniczak, Mara; Letchford, Laura; Livett, Rich; Lo, Stephanie; Martincorena, Inigo; McGuigan, Samantha; Nelson, Rachel; Palmer, Steve; Park, Naomi; Patel, Minal; Prestwood, Liam; Puethe, Christoph; Quail, Michael; Rajatileka, Shavanthi; Scott, Carol; Shirley, Lesley; Sillitoe, John; Spencer Chapman, Michael; Thurston, Scott; Tonkin-Hill, Gerry; Weldon, Danni; Rajan, Diana; Bronner, Iraad; Aigrain, Louise; Redshaw, Nicholas; Lensing, Stefanie; Davies, Robert; Whitwham, Andrew; Liddle, Jennifier; Lewis, Kevin; Tovar-Corona, Jaime; Leonard, Steven; Durham, Jillian; Bassett, Andrew; McCarthy, Shane; Moll, Robin; James, Keith; Oliver, Karen; Makunin, Alex; Barrett, Jeff; Gunson, Rory
Lancet Infect Dis
Academic Journal
Biesecker, Leslie G.; Harrison, Steven M.; Tayoun, Ahmad A.; Berg, Jonathan S.; Brenner, Steven E.; Cutting, Garry R.; Ellard, Sian; Greenblatt, Marc S.; Kang, Peter; Karbassi, Izabela; Karchin, Rachel; Mester, Jessica; O’Donnell-Luria, Anne; Pesaran, Tina; Plon, Sharon E.; Rehm, Heidi L.; Strande, Natasha T.; Tavtigian, Sean V.; Topper, Scott; Pejaver, Vikas ; Byrne, Alicia B. ; Feng, Bing-Jian ; Pagel, Kymberleigh A. ; Mooney, Sean D. ; Radivojac, Predrag
In The American Journal of Human Genetics 1 December 2022 109(12):2163-2177
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Frayling, Timothy M.; Lindgren, Cecilia; Chevre, Jean Claude; Menzel, Stephan; Wishart, Marie; Benmezroua, Yamina; Brown, Alison; Evans, Julie C.; Rao, Pamidghantam Subba; Dina, Christian; Lecoeur, Cécile; Kanninen, Timo; Almgren, Peter; Bulman, Michael P.; Wang, Youxiang; Mills, James; Wright-Pascoe, Rosemarie; Mahtani, Melanie M.; Prisco, Francesco; Costa, Angels; Cognet, Ignacio; Hansen, Torben; Pedersen, Oluf; Ellard, Sian; Tuomi, Tiinamaija; Groop, Leif; Froguel, Philippe; Hattersley, Andrew T.; Vaxillaire, Martine
Diabetes. 52(3):872-881
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ACAR, SEZER; Atar, Muge; Ellard, Sian; Flanagan, Sarah E.; Johnson, Matthew B.; DEMİRBİLEK, HÜSEYİN; Cizmecioglu, Filiz; BERBEROĞLU, MERİH; DEMİR, KORCAN; Houghton, Jayne; Patel, Kashyap A.; Catli, Gonul; Bas, Serpil; Ozbek, Mehmet N.; Yildiz, Melek; GÜRAN, TÜLAY; Akcay, Teoman; Kocyigit, Cemil; Hattersley, Andrew T.; Weedon, Michael N.; Colclough, Kevin; ŞIKLAR, ZEYNEP
Diabetologia
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Robson, Samuel C.; Loman, Nicholas J.; Connor, Thomas R.; Golubchik, Tanya; Martinez Nunez, Rocio T.; Ludden, Catherine; Corden, Sally; Johnston, Ian; Bonsall, David; Smith, Colin P.; Awan, Ali R.; Bucca, Giselda; Torok, M. 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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. 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Academic Journal
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Ann Neurol
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
ANNALS OF NEUROLOGY
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Annals of neurology 90(1), 143-158 (2021). doi:10.1002/ana.26127
Ann. Neurol. 90, 143-158 (2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
ANNALS OF NEUROLOGY
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Annals of neurology 90(1), 143-158 (2021). doi:10.1002/ana.26127
Ann. Neurol. 90, 143-158 (2021)
Academic Journal
Dias, Kerith-Rae ; Carlston, Colleen M. ; Blok, Laura E.R. ; De Hayr, Lachlan ; Nawaz, Urwah ; Evans, Carey-Anne ; Bayrak-Toydemir, Pinar ; Htun, Stephanie ; Zhu, Ying ; Ma, Alan ; Lynch, Sally Ann ; Moorwood, Catherine ; Stals, Karen ; Ellard, Sian ; Bainbridge, Matthew N. ; Friedman, Jennifer ; Pappas, John G. ; Rabin, Rachel ; Nowak, Catherine B. ; Douglas, Jessica ; Wilson, Theodore E. ; Guillen Sacoto, Maria J. ; Mullegama, Sureni V. ; Palculict, Timothy Blake ; Kirk, Edwin P. ; Pinner, Jason R. ; Edwards, Matthew ; Montanari, Francesca ; Graziano, Claudio ; Pippucci, Tommaso ; Dingmann, Bri ; Glass, Ian ; Mefford, Heather C. ; Shimoji, Takeyoshi ; Suzuki, Toshimitsu ; Yamakawa, Kazuhiro ; Streff, Haley ; Schaaf, Christian P. ; Slavotinek, Anne M. ; Voineagu, Irina ; Carey, John C. ; Buckley, Michael F. ; Schenck, Annette ; Harvey, Robert J. ; Roscioli, Tony
In Genetics in Medicine September 2022 24(9):1952-1966
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