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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease Martin-Geary, Alexandra C.; Blakes, Alexander J. M.; Dawes, Ruebena; Findlay, Scott D.; Lord, Jenny; Dong, Shan; Walker, Susan; Talbot-Martin, Jonathan; Wieder, Nechama; D'Souza, Elston N.; Fernandes, Maria; Hilton, Sarah; Lahiri, Nayana; Campbell, Christopher; Jenkinson, Sarah; Degoede, Christian G. E. L.; Anderson, Emily R.; Candler, Toby; Firth, Helen; Burge, Christopher B.; Sanders, Stephan J.; Ellingford, Jamie; Baralle, Diana; Whiffin, Nicola Share Save
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants Haque, Bushra; Cheerie, David; Pan, Amy; Curtis, Meredith; Nalpathamkalam, Thomas; Nguyen, Jimmy; Salhab, Celine; Thiruvahindrapuram, Bhooma; Zhang, Jade; Couse, Madeline; Hartley, Taila; Morrow, Michelle M.; Price, E. Magda; Walker, Susan; Malkin, David; Roth, Frederick P.; Costain, Gregory Share Save
On-target mutations drive resistance to WRN helicase inhibitors in microsatellite unstable colorectal cancer Picco, G.; Rao, Y.; Al Saedi, A.; Vieira, S.; Lee, Y.; Walker, S.; Bhosle, S.; May, K.; Taygerly, J.; Jones, B.; Coelho, M.; Houseley, J.; Sharma, G.; Schwartz, B.; Garnett, M. Share Save
FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6 Watts, Laura M.; Bunyan, David J.; Giacopuzzi, Edoardo; Walker, Susan; Gazdagh, Gabriella; Thomas, N. Simon; Straub, Volker; Childs, Anne-Marie; Forsyth, Joan; Vogt, Julie; Khan, Shagufta; Willis, Tracey A.; Taylor, Jenny C.; Pagnamenta, Alistair T. Share Save
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Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure Nolan, Joshua; Buchanan, James; Taylor, John; Almeida, Joao; Bedenham, Tina; Blair, Edward; Broadgate, Suzanne; Butler, Samantha; Cazeaux, Angela; Craft, Judith; Cranston, Treena; Crawford, Gillian; Forrest, Jamie; Gabriel, Jessica; George, Elaine; Gillen, Donna; Haeger, Ash; Ward, Jillian Hastings; Hawkes, Lara; Hodgkiss, Claire; Hoffman, Jonathan; Jones, Alan; Karpe, Fredrik; Kasperaviciute, Dalia; Kovacs, Erika; Leigh, Sarah; Limb, Elizabeth; Lloyd-Jani, Anjali; Lopez, Javier; Lucassen, Anneke; McFarlane, Carlos; O'Reurke, Anthony W.; Pond, Emily; Sherman, Catherine; Stewart, Helen; Thomas, Ellen; Thomas, Simon; Thomas, Tessy; Thomson, Kate; Wakelin, Hannah; Walker, Susan; Watson, Melanie; Williams, Eleanor; Ormondroyd, Elizabeth Share Save
Clinical application of tumour-in-normal contamination assessment from whole genome sequencing Mitchell, Jonathan; Milite, Salvatore; Bartram, Jack; Walker, Susan; Volkova, Nadezda; Yavorska, Olena; Zarowiecki, Magdalena; Chalker, Jane; Thomas, Rebecca; Vago, Luca; Sosinsky, Alona; Caravagna, Giulio Share Save
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme Sosinsky, Alona; Ambrose, John; Cross, William; Turnbull, Clare; Henderson, Shirley; Jones, Louise; Hamblin, Angela; Arumugam, Prabhu; Chan, Georgia; Chubb, Daniel; Noyvert, Boris; Mitchell, Jonathan; Walker, Susan; Bowman, Katy; Pasko, Dorota; Buongermino Pereira, Marianna; Volkova, Nadezda; Rueda-Martin, Antonio; Perez-Gil, Daniel; Lopez, Javier; Pullinger, John; Siddiq, Afshan; Zainy, Tala; Choudhury, Tasnim; Yavorska, Olena; Fowler, Tom; Bentley, David; Kingsley, Clare; Hing, Sandra; Deans, Zandra; Rendon, Augusto; Hill, Sue; Caulfield, Mark; Murugaesu, Nirupa Share Save
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A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency Pagnamenta, Alistair T. T.; Yu, Jing; Willis, Tracey A. A.; Hashim, Mona; Seaby, Eleanor G. G.; Walker, Susan; Xian, Jiaqi; Cheng, Emily W. Y.; Tavares, Ana Lisa Taylor; Forzano, Francesca; Cox, Helen; Dabir, Tabib; Brady, Angela F. F.; Ghali, Neeti; Atanur, Santosh S. S.; Ennis, Sarah; Baralle, Diana; Taylor, Jenny C. C. Share Save
Pharmacogenetic profiling via genome sequencing in children with medical complexity Pan, Amy; Scodellaro, Sierra; Khan, Tayyaba; Ushcatz, Inna; Wu, Wendy; Curtis, Meredith; Cohen, Eyal; Cohn, Ronald D.; Hayeems, Robin Z.; Meyn, M. Stephen; Orkin, Julia; Otal, Jaskiran; Reuter, Miriam S.; Walker, Susan; Scherer, Stephen W.; Marshall, Christian R.; Cohn, Iris; Costain, Gregory Share Save
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome Stephenson, Sarah E. M.; Costain, Gregory; Blok, Laura E. R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P. Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Angeline; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E. L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Sulem, Patrick; Stefansson, Kari; Bjornsson, Hans Tomas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong Yang Share Save
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J. M.; Goodman, Sarah J.; Siu, Michelle T.; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B. A.; Deden, A. Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Vermeulen, Jeroen R.; van Harssel, Jeske V. T.; Bosch, Danielle G. M.; van Gassen, Koen L., I; van Binsbergen, Ellen; de Geus, Christa M.; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M.; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B.; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W.; Berry, Ian R.; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M.; Radley, Jessica A.; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tonne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Malgorzata J. M.; Cohn, Ronald D.; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Koolen, David A.; Weksberg, Rosanna Share Save
Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders D'Abate, L.; Walker, S.; Yuen, R. K. C.; Tammimies, K.; Buchanan, J. A.; Davies, R. W.; Thiruvahindrapuram, B.; Wei, J.; Brian, J.; Bryson, S. E.; Dobkins, K.; Howe, J.; Landa, R.; Leef, J.; Messinger, D.; Ozonoff, S.; Smith, I. M.; Stone, W. L.; Warren, Z. E.; Young, G.; Zwaigenbaum, L.; Scherer, S. W. Share Save
Impact of DNA source on genetic variant detection from human whole-genome sequencing data Trost, Brett; Walker, Susan; Haider, Syed A.; Sung, Wilson W. L.; Pereira, Sergio; Phillips, Charly L.; Higginbotham, Edward J.; Strug, Lisa J.; Nguyen, Charlotte; Raajkumar, Akshaya; Szego, Michael J.; Marshall, Christian R.; Scherer, Stephen W. Share Save
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