Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, Joanna; Samocha, Kaitlin E.; Wiel, Laurens; Zhang, Zhancheng; Eberhardt, Ruth Y.; Gallone, Giuseppe; Lelieveld, Stefan H.; Martin, Hilary C.; McRae, Jeremy F.; Short, Patrick J.; Torene, Rebecca I.; de Boer, Elke; Danecek, Petr; Gardner, Eugene J.; Huang, Ni; Borras, Silvia; Lord, Jenny; Clark, Caroline; Dean, John; Martincorena, Iñigo; Arvai, Kevin J.; Miedzybrodzka, Zosia; Pfundt, Rolph; Ross, Alison; Tennant, Stephen; Reijnders, Margot R. F.; Dabir, Tabib; Yeung, Alison; Donnelly, Deirdre; Humphreys, Mervyn; Yntema, Helger G.; Magee, Alex; McConnell, Vivienne; McKee, Shane; McNerlan, Susan; Morrison, Patrick J.; Rea, Gillian; Stewart, Fiona; Cole, Trevor; Cooper, Nicola; Cooper-Charles, Lisa; Cox, Helen; Islam, Lily; Jarvis, Joanna; Keelagher, Rebecca; Lim, Derek; McMullan, Dominic; Morton, Jenny; Naik, Swati; O’Driscoll, Mary; Ong, Kai-Ren; Osio, Deborah; Ragge, Nicola; Turton, Sarah; Vogt, Julie; Williams, Denise; Bodek, Simon; Donaldson, Alan; Hills, Alison; Low, Karen; Newbury-Ecob, Ruth; Norman, Andrew M.; Roberts, Eileen; Scurr, Ingrid; Smithson, Sarah; Tooley, Madeleine; Dunn, Carolyn; Holden, Simon; Park, Soo-Mi; Paterson, Joan; Raymond, Lucy; Reid, Evan; Sandford, Richard; Simonic, Ingrid; Tischkowitz, Marc; Woods, Geoff; Bradley, Lisa; Abbs, Steve; Comerford, Joanne; Green, Andrew; Armstrong, Ruth; Lynch, Sally; McQuaid, Shirley; Mullaney, Brendan; Berg, Jonathan; Goudie, David; Mavrak, Eleni; McLean, Joanne; McWilliam, Catherine; Reavey, Eleanor; Cleary, Elaine; Jackson, Andrew; Lam, Wayne; Lampe, Anne; Moore, David; Porteous, Mary; Brewer, Carole; Castle, Bruce; Kivuva, Emma; Owens, Martina; Azam, Tara; Rankin, Julia; Shaw-Smith, Charles; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Bradley, Therese; Davidson, Rosemarie; Baple, Emma; Gardiner, Carol; Joss, Shelagh; Baptista, Júlia; Kinning, Esther; Longman, Cheryl; McGowan, Ruth; Murday, Victoria; Pilz, Daniela; Tobias, Edward; Whiteford, Margo; Williams, Nicola; Barnicoat, Angela; Clement, Emma; Faravelli, Francesca; Hurst, Jane; Jenkins, Lucy; Jones, Wendy; Kumar, V. K. Ajith; Lees, Melissa; Loughlin, Sam; Male, Alison; Morrogh, Deborah; Rosser, Elisabeth; Scott, Richard; Wilson, Louise; Beleza, Ana; Deshpande, Charu; Flinter, Frances; Holder, Muriel; Irving, Melita; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Molenda, Aneta; Robert, Leema; Roworth, Wendy; Ruddy, Deborah; Ryten, Mina; Yau, Shu; Bennett, Christopher; Blyth, Moira; Campbell, Jennifer; Coates, Andrea; Dobbie, Angus; Hewitt, Sarah; Hobson, Emma; Jackson, Eilidh; Jewell, Rosalyn; Kraus, Alison; Prescott, Katrina; Sheridan, Eamonn; Thomson, Jenny; Bradshaw, Kirsty; Dixit, Abhijit; Eason, Jacqueline; Haines, Rebecca; Ajith Kumar, V. K.; Harrison, Rachel; Mutch, Stacey; Sarkar, Ajoy; Searle, Claire; Shannon, Nora; Sharif, Abid; Suri, Mohnish; Vasudevan, Pradeep; Canham, Natalie; Ellis, Ian; Greenhalgh, Lynn; Howard, Emma; Stinton, Victoria; Swale, Andrew; Weber, Astrid; Breen, Catherine; Briggs, Tracy; Burkitt-Wright, Emma; Chandler, Kate; Clayton-Smith, Jill; Donnai, Dian; Banka, Siddharth; Douzgou, Sofia; Gaunt, Lorraine; Jones, Elizabeth; Kerr, Bronwyn; Langley, Claire; Metcalfe, Kay; Smith, Audrey; Wright, Ronnie; Bourn, David; Burn, John; Fisher, Richard; Hellens, Steve; Henderson, Alex; Montgomery, Tara; Splitt, Miranda; Straub, Volker; Wright, Michael; Zwolinski, Simon; Bernhard, Birgitta; Brady, Angela; Brooks, Claire; Busby, Louise; Allen, Zoe; Clowes, Virginia; Ghali, Neeti; Holder, Susan; Ibitoye, Rita; Wakeling, Emma; Blair, Edward; Carmichael, Jenny; Cilliers, Deirdre; Clasper, Susan; Gibbons, Richard; Kini, Usha; Lester, Tracy; Nemeth, Andrea; Poulton, Joanna; Price, Sue; Shears, Debbie; Stewart, Helen; Wilkie, Andrew; Johnson, Diana; Albaba, Shadi; Parker, Michael; Quarrell, Oliver; Baker, Duncan; Stewart, Alison; Willoughby, Josh; Balasubramanian, Meena; Crosby, Charlene; Elmslie, Frances; Homfray, Tessa; Jin, Huilin; Lahiri, Nayana; Mansour, Sahar; Marks, Karen; McEntagart, Meriel; Saggar, Anand; Tatton-Brown, Kate; Butler, Rachel; Clarke, Angus; Corrin, Sian; Fry, Andrew; Kamath, Arveen; McCann, Emma; Mugalaasi, Hood; Pottinger, Caroline; Procter, Annie; Sampson, Julian; Sansbury, Francis; Varghese, Vinod; Baralle, Diana; Callaway, Alison; Cassidy, Emma J.; Daniels, Stacey; Douglas, Andrew; Foulds, Nicola; Hunt, David; Kharbanda, Mira; Lachlan, Katherine; Mercer, Catherine; Vissers, Lisenka E. L. M.; Side, Lucy; Juusola, Jane; Wright, Caroline F.; Karen Temple, I.; Wellesley, Diana; Temple, I. Karen; Brunner, Han G.; Firth, Helen V.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.; Gilissen, Christian; Retterer, Kyle

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Nature Research, Nature, 7831(586), p. 757-762, 2020

DOI: 10.1038/s41586-020-2832-5

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Evidence for 28 genetic disorders discovered by combining healthcare and research data

Journal article published in 2020 by Joanna Kaplanis, Kaitlin E. Samocha

, Laurens Wiel

, Zhancheng Zhang, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick J. Short, Rebecca I. Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang and other authors.

This paper is made freely available by the publisher.

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Evidence for 28 genetic disorders discovered by combining healthcare and research data