The microglial sensome revealed by direct RNA sequencing
Hickman, Suzanne E, Kingery, Nathan D, Ohsumi, Toshiro K, Borowsky, Mark L, Wang, Li-chong, Means, Terry K, El Khoury, Joseph
Published in Nature neuroscience (01.12.2013)
Published in Nature neuroscience (01.12.2013)
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Journal Article
Genome-wide Identification of Polycomb-Associated RNAs by RIP-seq
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.
Published in Molecular cell (22.12.2010)
Published in Molecular cell (22.12.2010)
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Journal Article
Genome-wide Chromatin Interactions of the Nanog Locus in Pluripotency, Differentiation, and Reprogramming
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
Published in Cell stem cell (06.06.2013)
Published in Cell stem cell (06.06.2013)
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Journal Article
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
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.
Published in Cell (27.04.2012)
Published in Cell (27.04.2012)
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Journal Article
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA
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
Published in Journal of allergy and clinical immunology (01.01.2015)
Published in Journal of allergy and clinical immunology (01.01.2015)
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Journal Article
Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration
Badran, Yousef R, Dedeoglu, Fatma, Leyva Castillo, Juan Manuel, Bainter, Wayne, Ohsumi, Toshiro K, Bousvaros, Athos, Goldsmith, Jeffrey D, Geha, Raif S, Chou, Janet
Published in The Journal of experimental medicine (03.07.2017)
Published in The Journal of experimental medicine (03.07.2017)
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Journal Article
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency
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
Published in Nature genetics (01.01.2016)
Published in Nature genetics (01.01.2016)
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Journal Article
Spreading of X chromosome inactivation via a hierarchy of defined Polycomb stations
Pinter, Stefan F, Sadreyev, Ruslan I, Yildirim, Eda, Jeon, Yesu, Ohsumi, Toshiro K, Borowsky, Mark, Lee, Jeannie T
Published in Genome research (01.10.2012)
Published in Genome research (01.10.2012)
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Journal Article
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
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
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Journal Article
Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research
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.
Published in American journal of human genetics (08.04.2011)
Published in American journal of human genetics (08.04.2011)
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Journal Article
The CIP2A-TOPBP1 axis safeguards chromosome stability and is a synthetic lethal target for BRCA-mutated cancer
Adam, Salomé, Rossi, Silvia Emma, Moatti, Nathalie, De Marco Zompit, Mara, Xue, Yibo, Ng, Timothy F, Álvarez-Quilón, 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
Published in Nature cancer (01.12.2021)
Published in Nature cancer (01.12.2021)
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Journal Article
Functional analysis of the microtubule-interacting transcriptome
Sharp, Judith A, Plant, Joshua J, Ohsumi, Toshiro K, Borowsky, Mark, Blower, Michael D
Published in Molecular biology of the cell (15.11.2011)
Published in Molecular biology of the cell (15.11.2011)
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Journal Article
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association
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
Published in Journal of allergy and clinical immunology (01.03.2016)
Published in Journal of allergy and clinical immunology (01.03.2016)
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Journal Article
MUT-14 and SMUT-1 DEAD Box RNA Helicases Have Overlapping Roles in Germline RNAi and Endogenous siRNA Formation
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.
Published in Current biology (14.04.2014)
Published in Current biology (14.04.2014)
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Journal Article
A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function
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
Published in Journal of allergy and clinical immunology (01.08.2015)
Published in Journal of allergy and clinical immunology (01.08.2015)
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Journal Article
Histone H3R2 Symmetric Dimethylation and Histone H3K4 Trimethylation Are Tightly Correlated in Eukaryotic Genomes
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.
Published in Cell reports (Cambridge) (23.02.2012)
Published in Cell reports (Cambridge) (23.02.2012)
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Journal Article
Lessons in gene hunting: A RAG1 mutation presenting with agammaglobulinemia and absence of B cells
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
Published in Journal of allergy and clinical immunology (01.10.2014)
Published in Journal of allergy and clinical immunology (01.10.2014)
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Journal Article
Transposon activation mutagenesis as a screening tool for identifying resistance to cancer therapeutics
Chen, Li, Stuart, Lynda, Ohsumi, Toshiro K, Burgess, Shawn, Varshney, Gaurav K, Dastur, Anahita, Borowsky, Mark, Benes, Cyril, Lacy-Hulbert, Adam, Schmidt, Emmett V
Published in BMC cancer (27.02.2013)
Published in BMC cancer (27.02.2013)
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Journal Article
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections
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
Published in The New England journal of medicine (18.06.2015)
Published in The New England journal of medicine (18.06.2015)
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Journal Article
Analysis of combinatorial CRISPR screens with the Orthrus scoring pipeline
Ward, Henry N., Aregger, Michael, Gonatopoulos-Pournatzis, Thomas, Billmann, Maximilian, Ohsumi, Toshiro K., Brown, Kevin R., Blencowe, Benjamin J., Moffat, Jason, Myers, Chad L.
Published in Nature protocols (01.10.2021)
Published in Nature protocols (01.10.2021)
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