未登录 The Role of the Cysteamine Dioxygenase (ADO) Gene in Atopic Dermatitis 组氨酸脱羧酶（ADO）基因在特应性皮炎中的作用 Wang, Sailan; Vaz, Raquel; Lysell, Josefin; Eisfeldt, Jesper; Sahlen, Pelin; Asad, Samina; Wahlgren, Carl-Fredrik; Nordenskjold, Magnus; Bradley, Maria; Tapia-paez, Isabel 分享 收藏
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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta Caron, Veronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chor, Sarah; Lakhani, Saquib A.; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R.; van de Pol, Laura A.; van Hagen, Johanna M.; Russi, Alvaro Serrano; Le Guyader, Gwenael; Nordenskjold, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancie, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F.; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Francoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R.; Calame, Daniel G.; Genevieve, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A.; Dobyns, William B.; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M.; Tremblay, Andre; Michaud, Jacques L. 分享 收藏
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An integrative proteomics method identifies a regulator of translation during stem cell maintenance and differentiation Sabatier, Pierre; Beusch, Christian M.; Saei, Amir A.; Aoun, Mike; Moruzzi, Noah; Coelho, Ana; Leijten, Niels; Nordenskjold, Magnus; Micke, Patrick; Maltseva, Diana; Tonevitsky, Alexander G.; Millischer, Vincent; Villaescusa, J. Carlos; Kadekar, Sandeep; Gaetani, Massimiliano; Altynbekova, Kamilya; Kel, Alexander; Berggren, Per-Olof; Simonson, Oscar; Grinnemo, Karl-Henrik; Holmdahl, Rikard; Rodin, Sergey; Zubarev, Roman A. 分享 收藏
Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes (vol 147, pg 1742, 2021) Sahlen, Pelin; Spalinskas, Rapolas; Asad, Samina; Mahapatra, Kunal Das; Hojer, Pontus; Anil, Anandashankar; Eisfeldt, Jesper; Srivastava, Ankit; Nikamo, Pernilla; Mukherjee, Anaya; Kim, Kyu-Han; Bergman, Otto; Stahle, Mona; Sonkoly, Eniko; Pivarcsi, Andor; Wahlgren, Carl-Fredrik; Nordenskjold, Magnus; Taylan, Fulya; Tapia-Paez, Isabel; Bradley, Maria 分享 收藏
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders 罕见的HNRNP基因有害突变导致共享神经发育障碍 Gillentine, Madelyn A.; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N.; De Vries, Bert B. A.; Vissers, Lisenka E. L. M.; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A.; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M.; Friedman, Jennifer; Wright, Meredith S.; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K.; White, Kerry M.; Elpeleg, Orly; Berger, Itai; Espineli, Edward J.; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjaersgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L. Manace; Mckee, Shane; Mirzaa, Ghayda M.; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E. H.; van Gassen, Koen L. I.; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; Earl, Rachel K.; Nowakowski, Tomasz; Bernier, Raphael A.; Eichler, Evan E. 分享 收藏
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients 将全基因组测序整合到医疗环境中: 3219罕见病患者多个临床实体的高诊断率 Stranneheim, Henrik; Lagerstedt-Robinson, Kristina; Magnusson, Mans; Kvarnung, Malin; Nilsson, Daniel; Lesko, Nicole; Engvall, Martin; Anderlid, Britt-Marie; Arnell, Henrik; Johansson, Carolina Backman; Barbaro, Michela; Bjorck, Erik; Bruhn, Helene; Eisfeldt, Jesper; Freyer, Christoph; Grigelioniene, Giedre; Gustavsson, Peter; Hammarsjo, Anna; Hellstrom-Pigg, Maritta; Iwarsson, Erik; Jemt, Anders; Laaksonen, Mikael; Enoksson, Sara Lind; Malmgren, Helena; Naess, Karin; Nordenskjold, Magnus; Oscarson, Mikael; Pettersson, Maria; Rasi, Chiara; Rosenbaum, Adam; Sahlin, Ellika; Sardh, Eliane; Stodberg, Tommy; Tesi, Bianca; Tham, Emma; Thonberg, Hakan; Tohonen, Virpi; von Dobeln, Ulrika; Vassiliou, Daphne; Vonlanthen, Sofie; Wikstrom, Ann-Charlotte; Wincent, Josephine; Winqvist, Ola; Wredenberg, Anna; Ygberg, Sofia; Zetterstrom, Rolf H.; Marits, Per; Soller, Maria Johansson; Nordgren, Ann; Wirta, Valtteri; Lindstrand, Anna; Wedell, Anna 分享 收藏
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020) 大规模靶向测序确定神经发育障碍的风险基因 (第11卷，4932卷，2020) Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Perez-Jurado, Luis A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J. V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W. E.; Trabetti, Elisabetta; Sedlacek, Zdenek; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjold, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E. 分享 收藏
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 大规模靶向测序鉴定神经发育障碍的风险基因 Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Perez-Jurado, Luis A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Dalla Bernardina, Bernardo; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J. V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W. E.; Trabetti, Elisabetta; Sedlacek, Zdenek; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjold, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E. 分享 收藏
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability 从细胞遗传学到细胞基因组学: 全基因组测序作为一线测试全面捕捉导致智力障碍的各种致病遗传变异 Lindstrand, Anna; Eisfeldt, Jesper; Pettersson, Maria; Carvalho, Claudia M. B.; Kvarnung, Malin; Grigelioniene, Giedre; Anderlid, Britt-Marie; Bjerin, Olof; Gustavsson, Peter; Hammarsjo, Anna; Georgii-Hemming, Patrik; Iwarsson, Erik; Johansson-Soller, Maria; Lagerstedt-Robinson, Kristina; Lieden, Agne; Magnusson, Mans; Martin, Marcel; Malmgren, Helena; Nordenskjold, Magnus; Norling, Ameli; Sahlin, Ellika; Stranneheim, Henrik; Tham, Emma; Wincent, Josephine; Ygberg, Sofia; Wedell, Anna; Wirta, Valtteri; Nordgren, Ann; Lundin, Johanna; Nilsson, Daniel 分享 收藏
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission Guo, Hui; Li, Ying; Shen, Lu; Wang, Tianyun; Jia, Xiangbin; Liu, Lijuan; Xu, Tao; Ou, Mengzhu; Hoekzema, Kendra; Wu, Huidan; Gillentine, Madelyn A.; Liu, Cenying; Ni, Hailun; Peng, Pengwei; Zhao, Rongjuan; Zhang, Yu; Phornphutkul, Chanika; Stegmann, Alexander P. A.; Prada, Carlos E.; Hopkin, Robert J.; Shieh, Joseph T.; McWalter, Kirsty; Monaghan, Kristin G.; van Hasselt, Peter M.; van Gassen, Koen; Bai, Ting; Long, Min; Han, Lin; Quan, Yingting; Chen, Meilin; Zhang, Yaowen; Li, Kuokuo; Zhang, Qiumeng; Tan, Jieqiong; Zhu, Tengfei; Liu, Yaning; Pang, Nan; Peng, Jing; Scott, Daryl A.; Lalani, Seema R.; Azamian, Mahshid; Mancini, Grazia M. S.; Adams, Darius J.; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Pevsner, Jonathan; Osei-Owusu, Ikeoluwa A.; Romano, Corrado; Calabrese, Giuseppe; Galesi, Ornella; Gecz, Jozef; Haan, Eric; Ranells, Judith; Racobaldo, Melissa; Nordenskjold, Magnus; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Ball, Susie; Zou, Xiaobing; Zhao, Jingping; Hu, Zhengmao; Xia, Fan; Liu, Pengfei; Rosenfeld, Jill A.; de Vries, Bert B. A.; Bernier, Raphael A.; Xu, Zhi-Qing David; Li, Honghui; Xie, Wei; Hufnagel, Robert B.; Eichler, Evan E.; Xia, Kun 分享 收藏
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability Cogne, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slave; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R.; Sanders, Stephan J.; Uguen, Kevin; Harris, Jacqueline; Cohen, Julie S.; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H.; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T.; Humberson, Jennifer B.; Robak, Laurie; Scott, Daryl A.; Sutton, Vernon R.; Skraban, Cara M.; Johnston, Jennifer J.; Poduri, Annapurna; Nordenskjold, Magnus; Shashi, Vandana; Gerkes, Erica H.; Bongers, Ernie M. H. F.; Gilissen, Christian; Zarate, Yuri A.; Kvarnung, Malin; Lally, Kevin P.; Kulch, Peggy A.; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R.; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M.; Klee, Eric W.; Sapp, Julie C.; Zyskind, Jacob; Holla, Oystein L.; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Oyvind L.; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N.; Dewan, Tammie; Akdemir, Zeynep H. Coban; Telegrafi, Aida; Zackai, Elaine H.; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M.; Odent, Sylvie; Bonneau, Dominique; Latypova, Xenia; Deb, Wallid; Redon, Sylvia; Bilan, Frederic; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine, I; Pichurin, Pavel N.; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L.; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G.; Lowenstein, Dan; Posey, Jennifer E.; Denomme-Pichon, Anne-Sophie; Ferec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill A.; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Severine; Redon, Richard; Stessman, Holly A. F.; Nellaker, Christoffer; Yang, Yaping; Lupski, James R.; Goldstein, David B.; Eichler, Evan E.; Bolduc, Francois; Bezieau, Stephane; Kury, Sebastien; Campeau, Philippe M. 分享 收藏
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia Grigelioniene, Giedre; Suzuki, Hiroshi I.; Taylan, Fulya; Mirzamohammadi, Fatemeh; Borochowitz, Zvi U.; Ayturk, Ugur M.; Tzur, Shay; Horemuzova, Eva; Lindstrand, Anna; Weis, Mary Ann; Grigelionis, Gintautas; Hammarsjo, Anna; Marsk, Elin; Nordgren, Ann; Nordenskjold, Magnus; Eyre, David R.; Warman, Matthew L.; Nishimura, Gen; Sharp, Phillip A.; Kobayashi, Tatsuya 分享 收藏
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