未登录Long-Read Sequencing of a Neurodevelopmental Disorder Patient Reveals Complex Rearrangement Involving the ARID1B Gene长读长测序揭示了一名神经发育障碍患者的复杂重排，涉及ARID1B基因
Sneddon, Tam P.; Melville, Scott A.; Xiong, Mai; Foss, Kimberly; Cardwell, Emma B.; Rafferty, Kelly; Weck, Karen E.; Berglind, Ana; Heinzen, Erin L.; Tedder, Matt L.; Gucsavas-Calikoglu, Muge; Shiloh-Malawsky, Yael; Fan, Zheng (Jane); Powell, Bradford C.; Hunter, Senyene E. .png)
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收藏分享 收藏 Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels在智力障碍/自闭症测序面板上经常测试的基因的临床有效性评估Riggs, Erin Rooney; Bingaman, Taylor, I; Barry, Carrie-Ann; Behlmann, Andrea; Bluske, Krista; Bostwick, Bret; Bright, Alison; Chen, Chun-An; Clause, Amanda R.; Dharmadhikari, Avinash, V; Ganapathi, Mythily; Gonzaga-Jauregui, Claudia; Grant, Andrew R.; Hughes, Madeline Y.; Kim, Se Rin; Krause, Amanda; Liao, Jun; Lumaka, Aime; Mah, Michelle; Maloney, Caitlin M.; Mohan, Shruthi; Osei-Owusu, Ikeoluwa A.; Reble, Emma; Rennie, Olivia; Savatt, Juliann M.; Shimelis, Hermela; Siegert, Rebecca K.; Sneddon, Tam P.; Thaxton, Courtney; Toner, Kelly A.; Tran, Kien Trung; Webb, Ryan; Wilcox, Emma H.; Yin, Jiani; Zhuo, Xinming; Znidarsic, Masa; Martin, Christa Lese; Betancur, Catalina; Vorstman, Jacob A. S.; Miller, David T.; Schaaf, Christian P. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Long-read genome sequencing identifies causal structural variation in a Mendelian disease长读基因组测序确定孟德尔疾病的因果结构变异Merker, Jason D.; Wenger, Aaron M.; Sneddon, Tam; Grove, Megan; Zappala, Zachary; Fresard, Laure; Waggott, Daryl; Utiramerur, Sowmi; Hou, Yanli; Smith, Kevin S.; Montgomery, Stephen B.; Wheeler, Matthew; Buchan, Jillian G.; Lambert, Christine C.; Eng, Kevin S.; Hickey, Luke; Korlach, Jonas; Ford, James; Ashley, Euan A. 分享 收藏 Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome ResourceStrande, Natasha T.; Riggs, Erin Rooney; Buchanan, Adam H.; Ceyhan-Birsoy, Ozge; DiStefano, Marina; Dwight, Selina S.; Goldstein, Jenny; Ghosh, Rajarshi; Seifert, Bryce A.; Sneddon, Tam P.; Wright, Matt W.; Milko, Laura V.; Cherry, J. Michael; Giovanni, Monica A.; Murray, Michael F.; O'Daniel, Julianne M.; Ramos, Erin M.; Santani, Avni B.; Scott, Alan F.; Plon, Sharon E.; Rehm, Heidi L.; Martin, Christa L.; Berg, Jonathan S. 分享 收藏 分享 收藏 分享 收藏 Public data archives for genomic structural variationChurch, Deanna M.; Lappalainen, Ilkka; Sneddon, Tam P.; Hinton, Jonathan; Maguire, Michael; Lopez, John; Garner, John; Paschall, Justin; DiCuccio, Michael; Yaschenko, Eugene; Scherer, Stephen W.; Feuk, Lars; Flicek, Paul 分享 收藏 分享 收藏 分享 收藏 The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein常染色体隐性遗传性多囊肾病中突变的基因编码一种大的受体样蛋白Ward, CJ; Hogan, MC; Rossetti, S; Walker, D; Sneddon, T; Wang, XF; Kubly, V; Cunningham, JM; Bacallao, R; Ishibashi, M; Milliner, DS; Torres, VE; Harris, PC 分享 收藏 
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