未登录 Pyroptotic cell corpses are crowned with F-actin-rich filopodia that engage CLEC9A signaling in incoming dendritic cells Holley, Caroline L.; Monteleone, Mercedes; Fisch, Daniel; Libert, Alexandre E. S.; Ju, Robert J.; Choi, Joon H.; Condon, Nicholas D.; Emming, Stefan; Crawford, Joanna; Lawrence, Grace M. E. P.; Coombs, Jared R.; Lefevre, James G.; Bajracharya, Rinie; Lahoud, Mireille H.; Yap, Alpha S.; Hamilton, Nicholas; Stehbens, Samantha J.; Kagan, Jonathan C.; Ariotti, Nicholas; Burgener, Sabrina S.; Schroder, Kate 分享 收藏
High risk clear cell renal cell carcinoma microenvironments contain protumour immunophenotypes lacking specific immune checkpoints Raghubar, Arti M.; Matigian, Nicholas A.; Crawford, Joanna; Francis, Leo; Ellis, Robert; Healy, Helen G.; Kassianos, Andrew J.; Ng, Monica S. Y.; Roberts, Matthew J.; Wood, Simon; Mallett, Andrew J. 分享 收藏
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Spatial transcriptomic analysis of Sonic hedgehog medulloblastoma identifies that the loss of heterogeneity and promotion of differentiation underlies the response to CDK4/6 inhibition Vo, Tuan; Balderson, Brad; Jones, Kahli; Ni, Guiyan; Crawford, Joanna; Millar, Amanda; Tolson, Elissa; Singleton, Matthew; Kojic, Marija; Robertson, Thomas; Walters, Shaun; Mulay, Onkar; Bhuva, Dharmesh D.; Davis, Melissa J.; Wainwright, Brandon J.; Nguyen, Quan; Genovesi, Laura A. 分享 收藏
Iris and Ciliary Body Melanocytomas Are Defined by Solitary GNAQ Mutation Without Additional Oncogenic Alterations 虹膜和睫状体黑素细胞瘤由孤立的GNAQ突变定义，没有其他致癌改变 Solomon, David A.; Ramani, Biswarathan; Eiger-Moscovich, Maya; Milman, Tatyana; Uludag, Gunay; Crawford, J. Brooks; Phan, Isabella; Char, Devron H.; Shields, Carol L.; Eagle Jr, Ralph C.; Bastian, Boris C.; Bloomer, Michele M.; Pekmezci, Melike 分享 收藏
Spatially Resolved Transcriptomes of Mammalian Kidneys Illustrate the Molecular Complexity and Interactions of Functional Nephron Segments Raghubar, Arti M.; Pham, Duy T.; Tan, Xiao; Grice, Laura F.; Crawford, Joanna; Lam, Pui Yeng; Andersen, Stacey B.; Yoon, Sohye; Teoh, Siok Min; Matigian, Nicholas A.; Stewart, Anne; Francis, Leo; Ng, Monica S. Y.; Healy, Helen G.; Combes, Alexander N.; Kassianos, Andrew J.; Nguyen, Quan; Mallett, Andrew J. 分享 收藏
Altered differentiation of endometrial mesenchymal stromal fibroblasts is associated with endometriosis susceptibility McKinnon, Brett D.; Lukowski, Samuel W.; Mortlock, Sally; Crawford, Joanna; Atluri, Sharat; Subramaniam, Sugarniya; Johnston, Rebecca L.; Nirgianakis, Konstantinos; Tanaka, Keisuke; Amoako, Akwasi; Mueller, Michael D.; Montgomery, Grant W. 分享 收藏
Biallelic PI4KA variants cause neurological, intestinal and immunological disease 双等位基因PI4KA变体引起神经，肠道和免疫性疾病 Salter, Claire G.; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S.; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A.; Ferla, Matteo P.; Chioza, Barry A.; Wenger, Olivia; Scott, Ethan; Cross, Harold E.; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Melver, Catherine Ward; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N.; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Vockley, Catherine Walsh; Butte, Manish J.; Acar, Utkucan; van der Knaap, Marjo S.; Korenke, G. Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H.; Crosby, Andrew H.; De Camilli, Pietro; Wolf, Nicole, I; Baple, Emma L. 分享 收藏
Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants Hudson, Rebecca; Patel, Chirag; Hawley, Carmel M.; O'Shea, Stacey; Snelling, Paul; Ho, Gladys; Holman, Katherine; Bennetts, Bruce; Crawford, Joanna; Francis, Leo; Simons, Cas; Mallett, Andrew 分享 收藏
Genome sequencing in persistently unsolved white matter disorders Helman, Guy; Lajoie, Bryan R.; Crawford, Joanna; Takanohashi, Asako; Walkiewicz, Marzena; Dolzhenko, Egor; Gross, Andrew M.; Gainullin, Vladimir G.; Bent, Stephen J.; Jenkinson, Emma M.; Ferdinandusse, Sacha; Waterham, Hans R.; Dorboz, Imen; Bertini, Enrico; Miyake, Noriko; Wolf, Nicole, I; Abbink, Truus E. M.; Kirwin, Susan M.; Tan, Christina M.; Hobson, Grace M.; Guo, Long; Ikegawa, Shiro; Pizzino, Amy; Schmidt, Johanna L.; Bernard, Genevieve; Schiffmann, Raphael; van der Knaap, Marjo S.; Simons, Cas; Taft, Ryan J.; Vanderver, Adeline 分享 收藏
Genotype-free demultiplexing of pooled single-cell RNA-seq Xu, Jun; Falconer, Caitlin; Nguyen, Quan; Crawford, Joanna; McKinnon, Brett D.; Mortlock, Sally; Senabouth, Anne; Andersen, Stacey; Chiu, Han Sheng; Jiang, Longda; Palpant, Nathan J.; Yang, Jian; Mueller, Michael D.; Hewitt, Alex W.; Pebay, Alice; Montgomery, Grant W.; Powell, Joseph E.; Coin, Lachlan J. M. 分享 收藏
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy Yan, Huifang; Helman, Guy; Murthy, Swetha E.; Ji, Haoran; Crawford, Joanna; Kubisiak, Thomas; Bent, Stephen J.; Xiao, Jiangxi; Taft, Ryan J.; Coombs, Adam; Wu, Ye; Pop, Ana; Li, Dongxiao; de Vries, Linda S.; Jiang, Yuwu; Salomons, Gajja S.; van der Knaap, Marjo S.; Patapoutian, Ardem; Simons, Cas; Burmeister, Margit; Wang, Jingmin; Wolf, Nicole I. 分享 收藏
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (vol 105, pg 413, 2019) Kanca, Oguz; Andrews, Jonathan C.; Lee, Pei-Tseng; Patel, Chirag; Braddock, Stephen R.; Slavotinek, Anne M.; Cohen, Julie S.; Gubbels, Cynthia S.; Aldinger, Kimberly A.; Williams, Judy; Indaram, Maanasa; Fatemi, Ali; Yu, Timothy W.; Agrawal, Pankaj B.; Vezina, Gilbert; Simons, Cas; Crawford, Joanna; Lau, C. Christopher; Chung, Wendy K.; Markello, Thomas C.; Dobyns, William B.; Adams, David R.; Gahl, William A.; Wangler, Michael F.; Yamamoto, Shinya; Bellen, Hugo J.; Malicdan, May Christine V. 分享 收藏
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia Kanca, Oguz; Andrews, Jonathan C.; Lee, Pei-Tseng; Patel, Chirag; Braddock, Stephen R.; Slavotinek, Anne M.; Cohen, Julie S.; Gubbels, Cynthia S.; Aldinger, Kimberly A.; Williams, Judy; Indaram, Maanasa; Fatemi, Ali; Yu, Timothy W.; Agrawal, Pankaj B.; Vezina, Gilbert; Simons, Cas; Crawford, Joanna; Lau, C. Christopher; Chung, Wendy K.; Markello, Thomas C.; Dobyns, William B.; Adams, David R.; Gahl, William A.; Wangler, Michael F.; Yamamoto, Shinya; Bellen, Hugo J.; Malicdan, May Christine, V 分享 收藏
Biallelic variants in LARS2 and KARS cause deafness and ovario leukodystrophy LARS2和KARS中的双等位基因变体引起耳聋和卵巢脑白质营养不良 van der Knaap, Marjo S.; Bugiani, Marianna; Mendes, Marisa I.; Riley, Lisa G.; Smith, Desiree E. C.; Rudinger-Thirion, Joelle; Frugier, Magali; Breur, Marjolein; Crawford, Joanna; van Gaalen, Judith; Schouten, Meyke; Willems, Marjolaine; Waisfisz, Quinten; Mau-Them, Frederic Tran; Rodenburg, Richard J.; Taft, Ryan J.; Keren, Boris; Christodoulou, John; Depienne, Christel; Simons, Cas; Salomons, Gajja S.; Mochel, Fanny 分享 收藏
Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome Helman, Guy; Sharma, Suvasini; Crawford, Joanna; Patra, Bijoy; Jain, Puneet; Bent, Stephen J.; Urtizberea, J. Andoni; Saran, Ravindra K.; Taft, Ryan J.; van der Knaap, Marjo S.; Simons, Cas 分享 收藏
Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms Forbes, Thomas A.; Howden, Sara E.; Lawlor, Kynan; Phipson, Belinda; Maksimovic, Jovana; Hale, Lorna; Wilson, Sean; Quinlan, Catherine; Ho, Gladys; Holman, Katherine; Bennetts, Bruce; Crawford, Joanna; Trnka, Peter; Oshlack, Alicia; Patel, Chirag; Mallett, Andrew; Simons, Cas; Little, Melissa H. 分享 收藏
Universal Alternative Splicing of Noncoding Exons Deveson, Ira W.; Brunck, Marion E.; Blackburn, James; Tseng, Elizabeth; Hon, Ting; Clark, Tyson A.; Clark, Michael B.; Crawford, Joanna; Dinger, Marcel E.; Nielsen, Lars K.; Mattick, John S.; Mercer, Tim R. 分享 收藏
Intergenic disease-associated regions are abundant in novel transcripts Bartonicek, N.; Clark, M. B.; Quek, X. C.; Torpy, J. R.; Pritchard, A. L.; Maag, J. L. V.; Gloss, B. S.; Crawford, J.; Taft, R. J.; Hayward, N. K.; Montgomery, G. W.; Mattick, J. S.; Mercer, T. R.; Dinger, M. E. 分享 收藏
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