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Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression Malka, Samantha; Biswas, Pooja; Berry, Anne-Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; Santos, Cristina; Rehman, Atta Ur; Mehrotra, Sudeep; Baig, Hafiz Muhammad Azhar; Iqbal, Muhammad; Nsar, Muhammad A.; Santos, Luisa Coutinho; Sousa, Ana Berta; Tran, Viet H.; Matsui, Hiroko; Bhatia, Anjana; Naeem, Muhammad Asif; Akram, Shehla J.; Akram, Javed; Riazuddin, Sheikh; Ayuso, Carmen; Pierce, Eric A.; Hardcastle, Alison J.; Riazuddin, S. Amer; Frazer, Kelly A.; Hejtmancik, J. Fielding; Rivolta, Carlo; Bujakowska, Kinga M.; Arno, Gavin; Webster, Andrew R.; Ayyagari, Radha 分享 收藏
High resolution long-read telomere sequencing reveals dynamic mechanisms in aging and cancer 高分辨率长读端粒测序揭示衰老和癌症的动态机制 Schmidt, Tobias T.; Tyer, Carly; Rughani, Preeyesh; Haggblom, Candy; Jones, Jeffrey R.; Dai, Xiaoguang; Frazer, Kelly A.; Gage, Fred H.; Juul, Sissel; Hickey, Scott; Karlseder, Jan 分享 收藏
Telomere dynamics in aging and cancer by nanopore long-read sequencing Schmidt, Tobias T.; Tyer, Carly; Rughani, Preeyesh; Haggblom, Candy; Jones, Jeff; Dai, Xiaoguang; Frazer, Kelly A.; Gage, Fred H.; Juul, Sissel; Hickey, Scott; Karlseder, Jan 分享 收藏
Complex regulatory networks influence pluripotent cell state transitions in human iPSCs Arthur, Timothy D.; Nguyen, Jennifer P.; D'Antonio-Chronowska, Agnieszka; Matsui, Hiroko; Silva, Nayara S.; Joshua, Isaac N.; Aguiar, Lana Ribeiro; Arias, Angelo D.; Benaglio, Paola; Berggren, W. Travis; Belmonte, Juan Carlos Izpisua; Borja, Victor; Cook, Megan; Deboever, Christopher; Diffenderfer, Kenneth E.; Donovan, Margaret K. R.; Farnam, Kathyjean; Fujita, Kyohei; Garcia, Melvin; Henson, Benjamin A.; Harismendy, Olivier; Jakubosky, David; Jepsen, Kristen; Li, He; Nariai, Naoki; O'Connor, Daniel T.; Okubo, Jonathan; Panopoulos, Athanasia D.; Rao, Fengwen; Reyna, Joaquin; Salgado, Bianca M.; Smith, Erin N.; Sohmer, Josh; Yost, Shawn; Luchessi, Andre D.; Greenwald, William W. Young; D'Antonio, Matteo; Pera, Martin F.; Frazer, Kelly A. 分享 收藏
Single-nucleotide variants within heart enhancers increase binding affinity and disrupt heart development Jindal, Granton A.; Bantle, Alexis T.; Solvason, Joe J.; Grudzien, Jessica L.; D'Antonio-Chronowska, Agnieszka; Lim, Fabian; Le, Sophia H.; Song, Benjamin P.; Ragsac, Michelle F.; Klie, Adam; Larsen, Reid O.; Frazer, Kelly A.; Farley, Emma K. 分享 收藏
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Systems genomics in age-related macular degeneration 年龄相关性黄斑变性的系统基因组学 den Hollander, Anneke I.; Mullins, Robert F.; Orozco, Luz D.; Voigt, Andrew P.; Chen, Hsu-Hsin; Strunz, Tobias; Grassmann, Felix; Haines, Jonathan L.; Kuiper, Jonas J. W.; Tumminia, Santa J.; Allikmets, Rando; Hageman, Gregory S.; Stambolian, Dwight; Klaver, Caroline C. W.; Boeke, Jef D.; Chen, Hao; Honigberg, Lee; Katti, Suresh; Frazer, Kelly A.; Weber, Bernhard H. F.; Gorin, Michael B. 分享 收藏
Type 1 diabetes risk genes mediate pancreatic beta cell survival in response to proinflammatory cytokines Benaglio, Paola; Zhu, Han; Okino, Mei-Lin; Yan, Jian; Elgamal, Ruth; Nariai, Naoki; Beebe, Elisha; Korgaonkar, Katha; Qiu, Yunjiang; Donovan, Margaret K. R.; Chiou, Joshua; Wang, Gaowei; Newsome, Jacklyn; Kaur, Jaspreet; Miller, Michael; Preissl, Sebastian; Corban, Sierra; Aylward, Anthony; Taipale, Jussi; Ren, Bing; Frazer, Kelly A.; Sander, Maike; Gaulton, Kyle J. 分享 收藏
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Ultra-Sharp Nanowire Arrays Natively Permeate, Record, and Stimulate Intracellular Activity in Neuronal and Cardiac Networks 超锐纳米线阵列天然渗透，记录和刺激神经元和心脏网络中的细胞内活动 Liu, Ren; Lee, Jihwan; Tchoe, Youngbin; Pre, Deborah; Bourhis, Andrew M.; D'Antonio-Chronowska, Agnieszka; Robin, Gaelle; Lee, Sang Heon; Ro, Yun Goo; Vatsyayan, Ritwik; Tonsfeldt, Karen J.; Hossain, Lorraine A.; Phipps, M. Lisa; Yoo, Jinkyoung; Nogan, John; Martinez, Jennifer S.; Frazer, Kelly A.; Bang, Anne G.; Dayeh, Shadi A. 分享 收藏
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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis 通过全基因组序列分析破译三个种族人群中IRD的遗传结构和人种学分布 Biswas, Pooja; Villanueva, Adda L.; Soto-Hermida, Angel; Duncan, Jacque L.; Matsui, Hiroko; Borooah, Shyamanga; Kumarov, Berzhan; Richard, Gabriele; Khan, Shahid Yar; Branham, Kari; Huang, Bonnie; Suk, John; Bakall, Benjamin; Goldberg, Jeffrey L.; Gabriel, Luis; Khan, Naheed W.; Raghavendra, Pongali B.; Zhao, Jason; Devalaraja, Sindhu; Huynh, Andrew; Alapati, Akhila; Zawaydeh, Qais; Weleber, Richard G.; Heckenlively, John R.; Hejtmancik, J. Fielding; Riazuddin, Sheikh; Sieving, Paul A.; Riazuddin, S. Amer; Frazer, Kelly A.; Ayyagari, Radha 分享 收藏
Genomics Links Inflammation With Neurocognitive Impairment in Children Living With Human Immunodeficiency Virus Type-1 Rawat, Pratima; Brummel, Sean S.; Singh, Kumud K.; Kim, Jihoon; Frazer, Kelly A.; Nichols, Sharon; Seage, George R.; Williams, Paige L.; Van Dyke, Russell B.; Harismendy, Olivier; Trout, Rodney N.; Spector, Stephen A. 分享 收藏
Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model 使用WGS和hipsc-rpes模型在视网膜变性的单纯病例中检测和验证MERTK中的新突变 Biswas, Pooja; Borooah, Shyamanga; Matsui, Hiroko; Voronchikhina, Marina; Zhou, Jason; Zawaydeh, Qais; Raghavendra, Pongali B.; Ferreyra, Henry; Riazuddin, S. Amer; Wahlin, Karl; Frazer, Kelly A.; Ayyagari, Radha 分享 收藏
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