未登录RICTOR variants are associated with neurodevelopmental disorders
Carapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angelique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W. T.; Elserafy, Noha; Blair, Edward M.; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J.; Pfundt, Rolph; Boycott, Kym M.; Bruel, Ange-Line; Mau-Them, Frederic Tran; Moutton, Sebastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B. A.; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak .png)
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收藏Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosureNolan, 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 分享 收藏 分享 收藏 Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesPagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R.; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V.; Allroggen, Holger; Ansorge, Olaf; Babbs, Christian; Banka, Siddharth; Banos-Pinero, Benito; Beeson, David; Ben-Ami, Tal; Bennett, David L.; Bento, Celeste; Blair, Edward; Brasch-Andersen, Charlotte; Bull, Katherine R.; Cario, Holger; Cilliers, Deirdre; Conti, Valerio; Davies, E. Graham; Dhalla, Fatima; Dacal, Beatriz Diez; Dong, Yin; Dunford, James E.; Guerrini, Renzo; Harris, Adrian L.; Hartley, Jane; Hollander, Georg; Javaid, Kassim; Kane, Maureen; Kelly, Deirdre; Kelly, Dominic; Knight, Samantha J. L.; Kreins, Alexandra Y.; Kvikstad, Erika M.; Langman, Craig B.; Lester, Tracy; Lines, Kate E.; Lord, Simon R.; Lu, Xin; Mansour, Sahar; Manzur, Adnan; Maroofian, Reza; Marsden, Brian; Mason, Joanne; McGowan, Simon J.; Mei, Davide; Mlcochova, Hana; Murakami, Yoshiko; Nemeth, Andrea H.; Okoli, Steven; Ormondroyd, Elizabeth; Ousager, Lilian Bomme; Palace, Jacqueline; Patel, Smita Y.; Pentony, Melissa M.; Pugh, Chris; Rad, Aboulfazl; Ramesh, Archana; Riva, Simone G.; Roberts, Irene; Roy, Noemi; Salminen, Outi; Schilling, Kyleen D.; Scott, Caroline; Sen, Arjune; Smith, Conrad; Stevenson, Mark; Thakker, Rajesh V.; Twigg, Stephen R. F.; Uhlig, Holm H.; van Wijk, Richard; Vona, Barbara; Wall, Steven; Wang, Jing; Watkins, Hugh; Zak, Jaroslav; Schuh, Anna H.; Kini, Usha; Wilkie, Andrew O. M.; Popitsch, Niko; Taylor, Jenny C. 分享 收藏 Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationBernkopf, Marie; Abdullah, Ummi B.; Bush, Stephen J.; Wood, Katherine A.; Ghaffari, Sahar; Giannoulatou, Eleni; Koelling, Nils; Maher, Geoffrey J.; Thibaut, Loic M.; Williams, Jonathan; Blair, Edward M.; Kelly, Fiona Blanco; Bloss, Angela; Burkitt-Wright, Emma; Canham, Natalie; Deng, Alexander T.; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Gardham, Alice; Hay, Eleanor; Holder, Muriel; Homfray, Tessa; Hurst, Jane A.; Johnson, Diana; Jones, Wendy D.; Kini, Usha; Kivuva, Emma; Kumar, Ajith; Lees, Melissa M.; Leitch, Harry G.; Morton, Jenny E. V.; Nemeth, Andrea H.; Ramachandrappa, Shwetha; Saunders, Katherine; Shears, Deborah J.; Side, Lucy; Splitt, Miranda; Stewart, Alison; Stewart, Helen; Suri, Mohnish; Clouston, Penny; Davies, Robert W.; Wilkie, Andrew O. M.; Goriely, Anne 分享 收藏 In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2对携带破坏FOXP2基因的错义突变和功能丧失型突变个体队列的深入表征Morison, Lottie D.; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A.; Amor, David J.; Kleefstra, Tjitske; Fisher, Simon E.; Zweier, Christiane; Morgan, Angela T. 分享 收藏 The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and ManagementPollock, Lily; Ridout, Ashley; Teh, James; Nnadi, Colin; Stavroulias, Dionisios; Pitcher, Alex; Blair, Edward; Wordsworth, Paul; Vincent, Tonia L. 分享 收藏 Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shorteningBaxley, Ryan M.; Leung, Wendy; Schmit, Megan M.; Matson, Jacob Peter; Yin, Lulu; Oram, Marissa K.; Wang, Liangjun; Taylor, John; Hedberg, Jack; Rogers, Colette B.; Harvey, Adam J.; Basu, Debashree; Taylor, Jenny C.; Pagnamenta, Alistair T.; Dreau, Helene; Craft, Jude; Ormondroyd, Elizabeth; Watkins, Hugh; Hendrickson, Eric A.; Mace, Emily M.; Orange, Jordan S.; Aihara, Hideki; Stewart, Grant S.; Blair, Edward; Cook, Jeanette Gowen; Bielinsky, Anja-Katrin 分享 收藏 KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (vol 21, 10.1038/s41436-018-0259-2, 2019)Kennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L.; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J.; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia A. L.; Nibbeling, Esther; Dingemans, Alexander J. M.; Douine, Emilie D.; Nelson, Stanley F.; Hempel, Maja; Bierhals, Tatjana; Lessel, Davor; Johannsen, Jessika; Arboleda, Valerie A.; Newbury-Ecob, Ruth 分享 收藏 Reevaluation of the South AsianMYBPC3Δ25bpIntronic Deletion in Hypertrophic CardiomyopathyHarper, Andrew R.; Bowman, Michael; Hayesmoore, Jesse B. G.; Sage, Helen; Salatino, Silvia; Blair, Edward; Campbell, Carolyn; Currie, Bethany; Goel, Anuj; McGuire, Karen; Ormondroyd, Elizabeth; Sergeant, Kate; Waring, Adam; Woodley, Jessica; Kramer, Christopher M.; Neubauer, Stefan; Farrall, Martin; Watkins, Hugh; Thomson, Kate L. 分享 收藏 A clinical scoring system for congenital contractural arachnodactylyMeerschaut, Ilse; De Coninck, Shana; Steyaert, Wouter; Barnicoat, Angela; Bayat, Allan; Benedicenti, Francesco; Berland, Siren; Blair, Edward M.; Breckpot, Jeroen; De Burca, Anna; Destree, Anne; Garcia-Minaur, Sixto; Green, Andrew J.; Hanna, Bernadette C.; Keymolen, Kathelijn; Koopmans, Marije; Lederer, Damien; Lees, Melissa; Longman, Cheryl; Lynch, Sally Ann; Male, Alison M.; McKenzie, Fiona; Migeotte, Isabelle; Mihci, Ercan; Nur, Banu; Petit, Florence; Piard, Juliette; Plasschaert, Frank S.; Rauch, Anita; Ribai, Pascale; Pacheco, Iratxe Salcedo; Stanzial, Franco; Stolte-Dijkstra, Irene; Valenzuela, Irene; Varghese, Vinod; Vasudevan, Pradeep C.; Wakeling, Emma; Wallgren-Pettersson, Carina; Coucke, Paul; De Paepe, Anne; De Wolf, Daniel; Symoens, Sofie; Callewaert, Bert 分享 收藏 Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and micePagnamenta, Alistair T.; Heemeryck, Pierre; Martin, Hilary C.; Bosc, Christophe; Peris, Leticia; Uszynski, Ivy; Gory-Faure, Sylvie; Couly, Simon; Deshpande, Charu; Siddiqui, Ata; Elmonairy, Alaa A.; Jayawant, Sandeep; Murthy, Sarada; Walker, Ian; Loong, Lucy; Bauer, Peter; Vossier, Frederique; Denarier, Eric; Maurice, Tangui; Barbier, Emmanuel L.; Deloulme, Jean-Christophe; Taylor, Jenny C.; Blair, Edward M.; Andrieux, Annie; Moutin, Marie-Jo 分享 收藏 Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yieldThomson, Kate L.; Ormondroyd, Elizabeth; Harper, Andrew R.; Dent, Tim; McGuire, Karen; Baksi, John; Blair, Edward; Brennan, Paul; Buchan, Rachel; Bueser, Teofila; Campbell, Carolyn; Carr-White, Gerald; Cook, Stuart; Daniels, Matthew; Deevi, Sri V. V.; Goodship, Judith; Hayesmoore, Jesse B. G.; Henderson, Alex; Lamb, Teresa; Prasad, Sanjay; Rayner-Matthews, Paula; Robert, Leema; Sneddon, Linda; Stark, Hannah; Walsh, Roddy; Ware, James S.; Farrall, Martin; Watkins, Hugh C. 分享 收藏 Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlationsCameron, Jillian M.; Maljevic, Snezana; Nair, Umesh; Aung, Ye Htet; Cogne, Benjamin; Bezieau, Stephane; Blair, Edward; Isidor, Bertrand; Zweier, Christiane; Reis, Andre; Koenig, Mary Kay; Maarup, Timothy; Sarco, Dean; Afenjar, Alexandra; Huq, A. H. M. Mahbubul; Kukolich, Mary; de Villemeur, Thierry Billette; Nava, Caroline; Heron, Benedicte; Petrou, Steven; Berkovic, Samuel F. 分享 收藏 分享 收藏 KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsKennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L.; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J.; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia A. L.; Nibbeling, Esther; Dingemans, Alexander J. M.; Douine, Emilie D.; Nelson, Stanley F.; Arboleda, Valerie A.; Newbury-Ecob, Ruth 分享 收藏 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants与双等位基因LZTR1变异相关的常染色体隐性Noonan综合征Johnston, Jennifer J.; van der Smagt, Jasper J.; Rosenfeld, Jill A.; Pagnamenta, Alistair T.; Alswaid, Abdulrahman; Baker, Eva H.; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Vu Chi Dung; Emrick, Lisa; Everman, David B.; van Gassen, Koen L.; Gulsuner, Suleyman; Harr, Margaret H.; Jain, Mahim; Kuechler, Alma; Leppig, Kathleen A.; McDonald-McGinn, Donna M.; Ngoc Thi Bich Can; Peleg, Amir; Roeder, Elizabeth R.; Rogers, R. Curtis; Sagi-Dain, Lena; Sapp, Julie C.; Schaffer, Alejandro A.; Schanze, Denny; Stewart, Helen; Taylor, Jenny C.; Verbeek, Nienke E.; Walkiewicz, Magdalena A.; Zackai, Elaine H.; Zweier, Christiane; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G. 分享 收藏 Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaMichot, Caroline; Le Goff, Carine; Blair, Edward; Blanchet, Patricia; Capri, Yline; Gilbert-Dussardier, Brigitte; Goldenberg, Alice; Henderson, Alex; Isidor, Bertrand; Kayserili, Hulya; Kinning, Esther; Le Merrer, Martine; Lyonnet, Stanislas; Odent, Sylvie; Simsek-Kiper, Pelin Ozlem; Quelin, Chloe; Savarirayan, Ravi; Simon, Marleen; Splitt, Miranda; Verhagen, Judith M. A.; Verloese, Alain; Munnich, Arnold; Baujat, Genevieve; Cormier-Daire, Valerie 分享 收藏 De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderReijnders, Margot R. F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A. C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B. A.; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A. L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Luedecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W. E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M.; Cremer, Kirsten; Strom, Tim M.; Bird, Lynne M.; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F.; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L.; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S.; Edery, Patrick; Yap, Patrick; Terhal, Paulien A.; van der Spek, Peter J.; Lakeman, Phillis; Taylor, Rachel L.; Littlejohn, Rebecca O.; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P. A.; Kant, Sarina G.; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M. A.; Douzgou, Sofia; Wall, Steven A.; Kury, Sebastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Nellaker, Christoffer; Brunner, Han G.; Wilkie, Andrew O. M. 分享 收藏 Not pathogenic until proven otherwise: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project在基因组医学多学科团队和100,000基因组项目的背景下，英国临床基因组学专业人员对次要发现的看法Ormondroyd, Elizabeth; Mackley, Michael P.; Blair, Edward; Craft, Judith; Knight, Julian C.; Taylor, Jenny C.; Taylor, John; Watkins, Hugh 分享 收藏 
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