未登录 In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome Reynisdottir, Tinna; Anderson, Kimberley J.; Moller, Katrin; Petursson, Stefan; Brinn, Andrew; Franklin, Katheryn P.; Ouyang, Juan; Snorradottir, Asbjorg O.; Lutz, Cathleen M.; Zuberi, Aamir R.; Deleon, Valerie B.; Bjornsson, Hans T. 分享 收藏
N-Acetylcysteine for Hereditary Cystatin C Amyloid Angiopathy A Nonrandomized Clinical Trial N-乙酰半胱氨酸治疗遗传性胱抑素C淀粉样血管病：一项非随机临床试验 Snorradottir, Asbjorg Osk; Gutierrez-Uzquiza, Alvaro; Bragado, Paloma; March, Michael E.; Kao, Charlly; Arkink, Enrico Bernardo; Jonsdottir, Solveig; Sigurdardottir, Arna; Isaksson, Helgi J.; Mariasdottir, Hekla Liv; Bjorgvinsdottir, Olga Yr; Kowal, Natalia M.; Heimisdottir, Hugrun L.; Sverrisdottir, Astros; Palsdottir, Astridur; Bjornsson, Hans Tomas 分享 收藏
SMYD5 is a regulator of the mild hypothermia response Rafnsdottir, Salvor; Jang, Kijin; Halldorsdottir, Sara Tholl; Vinod, Meghna; Tomasdottir, Arnhildur; Moller, Katrin; Halldorsdottir, Katrin; Reynisdottir, Tinna; Atladottir, Laufey Halla; Allison, Kristin Elisabet; Ostacolo, Kevin; He, Jin; Zhang, Li; Northington, Frances J.; Magnusdottir, Erna; Chavez-Valdez, Raul; Anderson, Kimberley Jade; Bjornsson, Hans Tomas 分享 收藏
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KMT2D regulates activation, localization, and integrin expression by T-cells Potter, Sarah J.; Zhang, Li; Kotliar, Michael; Wu, Yuehong; Schafer, Caitlin; Stefan, Kurtis; Boukas, Leandros; Qu'd, Dima; Bodamer, Olaf; Simpson, Brittany N.; Barski, Artem; Lindsley, Andrew W.; Bjornsson, Hans T. 分享 收藏
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A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome Klemenzdottir, Elin Ola; Arnadottir, Gudny Anna; Jensson, Brynjar Orn; Jonasdottir, Adalbjorg; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Gudjonsson, Sigurjon Axel; Jonsson, Jon Johannes; Stefansdottir, Vigdis; Danielsen, Ragnar; Palsdottir, Astridur; Jonsson, Hakon; Helgason, Agnar; Magnusson, Olafur Thor; Thorsteinsdottir, Unnur; Bjornsson, Hans Tomas; Stefansson, Kari; Sulem, Patrick 分享 收藏
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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, Rosanna 分享 收藏
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Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4) Jefri, Malvin; Zhang, Xin; Stumpf, Patrick S.; Zhang, Li; Peng, Huashan; Hettige, Nuwan; Theroux, Jean-Francois; Aouabed, Zahia; Wilson, Khadija; Deshmukh, Shriya; Antonyan, Lilit; Ni, Anjie; Alsuwaidi, Shaima; Zhang, Ying; Jabado, Nada; Garcia, Benjamin A.; Schuppert, Andreas; Bjornsson, Hans T.; Ernst, Carl 分享 收藏
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 分享 收藏
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene Arnadottir, Gudny A.; Oddsson, Asmundur; Jensson, Brynjar O.; Gisladottir, Svanborg; Simon, Mariella T.; Arnthorsson, Asgeir O.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Ivarsdottir, Erna, V; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Barrick, Rebekah; Saemundsdottir, Jona; le Roux, Louise; Oskarsson, Gudjon R.; Asmundsson, Jurate; Steffensen, Thora; Gudmundsson, Kjartan R.; Ludvigsson, Petur; Jonsson, Jon J.; Masson, Gisli; Jonsdottir, Ingileif; Holm, Hilma; Jonasson, Jon G.; Magnusson, Olafur Th; Thorarensen, Olafur; Abdenur, Jose; Norddahl, Gudmundur L.; Gudbjartsson, Daniel F.; Bjornsson, Hans T.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari 分享 收藏
Universal prediction of cell-cycle position using transfer learning Zheng, Shijie C.; Stein-O'Brien, Genevieve; Augustin, Jonathan J.; Slosberg, Jared; Carosso, Giovanni A.; Winer, Briana; Shin, Gloria; Bjornsson, Hans T.; Goff, Loyal A.; Hansen, Kasper D. 分享 收藏
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Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database Fridriksdottir, Run; Jonsson, Arnar J.; Jensson, Brynjar O.; Sverrisson, Kristinn O.; Arnadottir, Gudny A.; Skarphedinsdottir, Sigurbjorg J.; Katrinardottir, Hildigunnur; Snaebjornsdottir, Steinunn; Jonsson, Hakon; Eiriksson, Ogmundur; Oskarsson, Gudjon R.; Oddsson, Asmundur; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Sigurdsson, Gisli H.; Indridason, Einar P.; Sigurdsson, Stefan B.; Bjornsdottir, Gyda; Saemundsdottir, Jona; Magnusson, Olafur T.; Bjornsson, Hans T.; Thorsteinsdottir, Unnur; Sigurdsson, Theodor S.; Sulem, Patrick; Sigurdsson, Martin, I; Stefansson, Kari 分享 收藏
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