Just in time: mal-HLH in Sweden, 1997 to 2018 von Martin, Beth A

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Embryo model completes gastrulation to neurulation and organogenesis von Amadei, Gianluca, Handford, Charlotte E., Qiu, Chengxiang, De Jonghe, Joachim, Greenfeld, Hannah, Tran, Martin, Martin, Beth K., Chen, Dong-Yuan, Aguilera-Castrejon, Alejandro, Hanna, Jacob H., Elowitz, Michael B., Hollfelder, Florian, Shendure, Jay, Glover, David M., Zernicka-Goetz, Magdalena

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Systematic reconstruction of cellular trajectories across mouse embryogenesis von Qiu, Chengxiang, Cao, Junyue, Martin, Beth K., Li, Tony, Welsh, Ian C., Srivatsan, Sanjay, Huang, Xingfan, Calderon, Diego, Noble, William Stafford, Disteche, Christine M., Murray, Stephen A., Spielmann, Malte, Moens, Cecilia B., Trapnell, Cole, Shendure, Jay

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Single-cell lineage tracing of metastatic cancer reveals selection of hybrid EMT states von Simeonov, Kamen P., Byrns, China N., Clark, Megan L., Norgard, Robert J., Martin, Beth, Stanger, Ben Z., Shendure, Jay, McKenna, Aaron, Lengner, Christopher J.

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MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing von Boyle, Evan A, O'Roak, Brian J, Martin, Beth K, Kumar, Akash, Shendure, Jay

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Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution von Kircher, Martin, Xiong, Chenling, Martin, Beth, Schubach, Max, Inoue, Fumitaka, Bell, Robert J. A., Costello, Joseph F., Shendure, Jay, Ahituv, Nadav

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A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity von Inoue, Fumitaka, Kircher, Martin, Martin, Beth, Cooper, Gregory M, Witten, Daniela M, McManus, Michael T, Ahituv, Nadav, Shendure, Jay

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Bone marrow histomorphological criteria can accurately diagnose hemophagocytic lymphohistiocytosis von Gars, Eric, Purington, Natasha, Scott, Gregory, Chisholm, Karen, Gratzinger, Dita, Martin, Beth A, Ohgami, Robert S

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Optimized single-nucleus transcriptional profiling by combinatorial indexing von Martin, Beth K., Qiu, Chengxiang, Nichols, Eva, Phung, Melissa, Green-Gladden, Rula, Srivatsan, Sanjay, Blecher-Gonen, Ronnie, Beliveau, Brian J., Trapnell, Cole, Cao, Junyue, Shendure, Jay

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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders von O'Roak, Brian J., Vives, Laura, Fu, Wenqing, Egertson, Jarrett D., Stanaway, Ian B., Phelps, Ian G., Carvill, Gemma, Kumar, Akash, Lee, Choli, Ankenman, Katy, Munson, Jeff, Hiatt, Joseph B., Turner, Emily H., Levy, Roie, O'Day, Diana R., Krumm, Niklas, Coe, Bradley P., Martin, Beth K., Borenstein, Elhanan, Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Akey, Joshua M., Bernier, Raphael, Eichler, Evan E., Shendure, Jay

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The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line von Adey, Andrew, Burton, Joshua N., Kitzman, Jacob O., Hiatt, Joseph B., Lewis, Alexandra P., Martin, Beth K., Qiu, Ruolan, Lee, Choli, Shendure, Jay

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Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States von Johnsen, Jill M., Fletcher, Shelley N., Dove, Angela, McCracken, Haley, Martin, Beth K., Kircher, Martin, Josephson, Neil C., Shendure, Jay, Ruuska, Sarah E., Valentino, Leonard A., Pierce, Glenn F., Watson, Crystal, Cheng, Dunlei, Recht, Michael, Konkle, Barbara A.

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Predicting cellular responses to complex perturbations in high‐throughput screens von Lotfollahi, Mohammad, Klimovskaia Susmelj, Anna, De Donno, Carlo, Hetzel, Leon, Ji, Yuge, Ibarra, Ignacio L, Srivatsan, Sanjay R, Naghipourfar, Mohsen, Daza, Riza M, Martin, Beth, Shendure, Jay, McFaline‐Figueroa, Jose L, Boyeau, Pierre, Wolf, F Alexander, Yakubova, Nafissa, Günnemann, Stephan, Trapnell, Cole, Lopez‐Paz, David, Theis, Fabian J

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Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants von Rehker, Jan, Rodhe, Johanna, Nesbitt, Ryan R, Boyle, Evan A, Martin, Beth K, Lord, Jenny, Karaca, Ilker, Naj, Adam, Jessen, Frank, Helisalmi, Seppo, Soininen, Hilkka, Hiltunen, Mikko, Ramirez, Alfredo, Scherer, Martin, Farrer, Lindsay A, Haines, Jonathan L, Pericak-Vance, Margaret A, Raskind, Wendy H, Cruchaga, Carlos, Schellenberg, Gerard D, Joseph, Bertrand, Brkanac, Zoran

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HemoMIPs—Automated analysis and result reporting pipeline for targeted sequencing data von Kleinert, Philip, Martin, Beth, Kircher, Martin

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Multiplex profiling of developmental cis-regulatory elements with quantitative single-cell expression reporters von Lalanne, Jean-Benoît, Regalado, Samuel G., Domcke, Silvia, Calderon, Diego, Martin, Beth K., Li, Xiaoyi, Li, Tony, Suiter, Chase C., Lee, Choli, Trapnell, Cole, Shendure, Jay

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Machine learning dissection of human accelerated regions in primate neurodevelopment von Whalen, Sean, Inoue, Fumitaka, Ryu, Hane, Fair, Tyler, Markenscoff-Papadimitriou, Eirene, Keough, Kathleen, Kircher, Martin, Martin, Beth, Alvarado, Beatriz, Elor, Orry, Laboy Cintron, Dianne, Williams, Alex, Hassan Samee, Md. Abul, Thomas, Sean, Krencik, Robert, Ullian, Erik M., Kriegstein, Arnold, Rubenstein, John L., Shendure, Jay, Pollen, Alex A., Ahituv, Nadav, Pollard, Katherine S.

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Chromatin context-dependent regulation and epigenetic manipulation of prime editing von Li, Xiaoyi, Chen, Wei, Martin, Beth K., Calderon, Diego, Lee, Choli, Choi, Junhong, Chardon, Florence M., McDiarmid, Troy A., Daza, Riza M., Kim, Haedong, Lalanne, Jean-Benoît, Nathans, Jenny F., Lee, David S., Shendure, Jay

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Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements von Chardon, Florence M., McDiarmid, Troy A., Page, Nicholas F., Daza, Riza M., Martin, Beth K., Domcke, Silvia, Regalado, Samuel G., Lalanne, Jean-Benoît, Calderon, Diego, Li, Xiaoyi, Starita, Lea M., Sanders, Stephan J., Ahituv, Nadav, Shendure, Jay

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Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia von D'Gama, Alissa M., Geng, Ying, Couto, Javier A., Martin, Beth, Boyle, Evan A., LaCoursiere, Christopher M., Hossain, Amer, Hatem, Nicole E., Barry, Brenda J., Kwiatkowski, David J., Vinters, Harry V., Barkovich, A. James, Shendure, Jay, Mathern, Gary W., Walsh, Christopher A., Poduri, Annapurna

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