The microglial sensome revealed by direct RNA sequencing von Hickman, Suzanne E, Kingery, Nathan D, Ohsumi, Toshiro K, Borowsky, Mark L, Wang, Li-chong, Means, Terry K, El Khoury, Joseph

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Genome-wide Identification of Polycomb-Associated RNAs by RIP-seq von Zhao, Jing, Ohsumi, Toshiro K., Kung, Johnny T., Ogawa, Yuya, Grau, Daniel J., Sarma, Kavitha, Song, Ji Joon, Kingston, Robert E., Borowsky, Mark, Lee, Jeannie T.

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Genome-wide Chromatin Interactions of the Nanog Locus in Pluripotency, Differentiation, and Reprogramming von Apostolou, Effie, Ferrari, Francesco, Walsh, Ryan M., Bar-Nur, Ori, Stadtfeld, Matthias, Cheloufi, Sihem, Stuart, Hannah T., Polo, Jose M., Ohsumi, Toshiro K., Borowsky, Mark L., Kharchenko, Peter V., Park, Peter J., Hochedlinger, Konrad

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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries von Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia M., Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David J., Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.

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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA von Charbonnier, Louis-Marie, PhD, Janssen, Erin, MD, PhD, Chou, Janet, MD, Ohsumi, Toshiro K., PhD, Keles, Sevgi, MD, Hsu, Joyce T., MD, Massaad, Michel J., PhD, Garcia-Lloret, Maria, MD, Hanna-Wakim, Rima, MD, Dbaibo, Ghassan, MD, Alangari, Abdullah A., MD, Alsultan, Abdulrahman, MD, Al-Zahrani, Daifulah, MD, Geha, Raif S., MD, Chatila, Talal A., MD, MSc

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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency von Jabara, Haifa H, Boyden, Steven E, Chou, Janet, Ramesh, Narayanaswamy, Massaad, Michel J, Benson, Halli, Bainter, Wayne, Fraulino, David, Rahimov, Fedik, Sieff, Colin, Liu, Zhi-Jian, Alshemmari, Salem H, Al-Ramadi, Basel K, Al-Dhekri, Hasan, Arnaout, Rand, Abu-Shukair, Mohammad, Vatsayan, Anant, Silver, Eli, Ahuja, Sanjay, Davies, E Graham, Sola-Visner, Martha, Ohsumi, Toshiro K, Andrews, Nancy C, Notarangelo, Luigi D, Fleming, Mark D, Al-Herz, Waleed, Kunkel, Louis M, Geha, Raif S

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Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration von Badran, Yousef R, Dedeoglu, Fatma, Leyva Castillo, Juan Manuel, Bainter, Wayne, Ohsumi, Toshiro K, Bousvaros, Athos, Goldsmith, Jeffrey D, Geha, Raif S, Chou, Janet

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Spreading of X chromosome inactivation via a hierarchy of defined Polycomb stations von Pinter, Stefan F, Sadreyev, Ruslan I, Yildirim, Eda, Jeon, Yesu, Ohsumi, Toshiro K, Borowsky, Mark, Lee, Jeannie T

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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration von Chiang, Colby, Jacobsen, Jessie C, Ernst, Carl, Hanscom, Carrie, Heilbut, Adrian, Blumenthal, Ian, Mills, Ryan E, Kirby, Andrew, Lindgren, Amelia M, Rudiger, Skye R, McLaughlan, Clive J, Bawden, C Simon, Reid, Suzanne J, Faull, Richard L M, Snell, Russell G, Hall, Ira M, Shen, Yiping, Ohsumi, Toshiro K, Borowsky, Mark L, Daly, Mark J, Lee, Charles, Morton, Cynthia C, MacDonald, Marcy E, Gusella, James F, Talkowski, Michael E

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Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research von Talkowski, Michael E., Ernst, Carl, Heilbut, Adrian, Chiang, Colby, Hanscom, Carrie, Lindgren, Amelia, Kirby, Andrew, Liu, Shangtao, Muddukrishna, Bhavana, Ohsumi, Toshiro K., Shen, Yiping, Borowsky, Mark, Daly, Mark J., Morton, Cynthia C., Gusella, James F.

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The CIP2A-TOPBP1 axis safeguards chromosome stability and is a synthetic lethal target for BRCA-mutated cancer von Adam, Salome, Rossi, Silvia Emma, Moatti, Nathalie, Zompit, Mara De Marco, Xue, Yibo, Ng, Timothy F., Alvarez-Quilon, Alejandro, Desjardins, Jessica, Bhaskaran, Vivek, Martino, Giovanni, Setiaputra, Dheva, Noordermeer, Sylvie M., Ohsumi, Toshiro K., Hustedt, Nicole, Szilard, Rachel K., Chaudhary, Natasha, Munro, Meagan, Veloso, Artur, Melo, Henrique, Yin, Shou Yun, Papp, Robert, Young, Jordan T. F., Zinda, Michael, Stucki, Manuel, Durocher, Daniel

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Functional analysis of the microtubule-interacting transcriptome von Sharp, Judith A, Plant, Joshua J, Ohsumi, Toshiro K, Borowsky, Mark, Blower, Michael D

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Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association von Yee, Christina S., MD, PhD, Massaad, Michel J., PhD, Bainter, Wayne, BA, Ohsumi, Toshiro K., PhD, Föger, Niko, PhD, Chan, Andrew C., MD, PhD, Akarsu, Nurten A., MD, Aytekin, Caner, MD, Ayvaz, Deniz Çagdas, MD, PhD, Tezcan, Ilhan, MD, PhD, Sanal, Özden, MD, Geha, Raif S., MD, Chou, Janet, MD

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A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function von Chou, Janet, MD, Badran, Yousef R., MD, Yee, Christina S.K., MD, PhD, Bainter, Wayne, BA, Ohsumi, Toshiro K., PhD, Al-Hammadi, Suleiman, MD, Pai, Sung-Yun, MD, Feske, Stefan, MD, Geha, Raif S., MD

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MUT-14 and SMUT-1 DEAD Box RNA Helicases Have Overlapping Roles in Germline RNAi and Endogenous siRNA Formation von Phillips, Carolyn M., Montgomery, Brooke E., Breen, Peter C., Roovers, Elke F., Rim, Young-Soo, Ohsumi, Toshiro K., Newman, Martin A., van Wolfswinkel, Josien C., Ketting, Rene F., Ruvkun, Gary, Montgomery, Taiowa A.

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Histone H3R2 Symmetric Dimethylation and Histone H3K4 Trimethylation Are Tightly Correlated in Eukaryotic Genomes von Yuan, Chih-Chi, Matthews, Adam G.W., Jin, Yi, Chen, Chang Feng, Chapman, Brad A., Ohsumi, Toshiro K., Glass, Karen C., Kutateladze, Tatiana G., Borowsky, Mark L., Struhl, Kevin, Oettinger, Marjorie A.

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Transposon activation mutagenesis as a screening tool for identifying resistance to cancer therapeutics von Chen, Li, Stuart, Lynda, Ohsumi, Toshiro K, Burgess, Shawn, Varshney, Gaurav K, Dastur, Anahita, Borowsky, Mark, Benes, Cyril, Lacy-Hulbert, Adam, Schmidt, Emmett V

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Lessons in gene hunting: A RAG1 mutation presenting with agammaglobulinemia and absence of B cells von Hedayat, Mona, MD, Massaad, Michel J., PhD, Lee, Yu Nee, PhD, Conley, Mary Ellen, MD, Orange, Jordan S., MD, PhD, Ohsumi, Toshiro K., PhD, Al-Herz, Waleed, MD, Notarangelo, Luigi D., MD, Geha, Raif S., MD, Chou, Janet, MD

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Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections von Dobbs, Kerry, Domínguez Conde, Cecilia, Zhang, Shen-Ying, Parolini, Silvia, Audry, Magali, Chou, Janet, Haapaniemi, Emma, Keles, Sevgi, Bilic, Ivan, Okada, Satoshi, Massaad, Michel J, Rounioja, Samuli, Alwahadneh, Adel M, Serwas, Nina K, Capuder, Kelly, Çiftçi, Ergin, Felgentreff, Kerstin, Ohsumi, Toshiro K, Pedergnana, Vincent, Boisson, Bertrand, Haskoloğlu, Şule, Ensari, Arzu, Schuster, Michael, Moretta, Alessandro, Itan, Yuval, Patrizi, Ornella, Rozenberg, Flore, Lebon, Pierre, Saarela, Janna, Knip, Mikael, Petrovski, Slavé, Goldstein, David B, Parrott, Roberta E, Savas, Berna, Schambach, Axel, Tabellini, Giovanna, Bock, Christoph, Chatila, Talal A, Comeau, Anne Marie, Geha, Raif S, Abel, Laurent, Buckley, Rebecca H, İkincioğulları, Aydan, Al-Herz, Waleed, Helminen, Merja, Doğu, Figen, Casanova, Jean-Laurent, Boztuğ, Kaan, Notarangelo, Luigi D

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Analysis of combinatorial CRISPR screens with the Orthrus scoring pipeline von Ward, Henry N., Aregger, Michael, Gonatopoulos-Pournatzis, Thomas, Billmann, Maximilian, Ohsumi, Toshiro K., Brown, Kevin R., Blencowe, Benjamin J., Moffat, Jason, Myers, Chad L.

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