Altered Chromatin Occupancy of Master Regulators Underlies Evolutionary Divergence in the Transcriptional Landscape of Erythroid Differentiation

por Ulirsch, Jacob C., Lacy, Jessica N., An, Xiuli, Mohandas, Narla, Mikkelsen, Tarjei S., Sankaran, Vijay G.
Publicado 2014

HRI coordinates translation necessary for protein homeostasis and mitochondrial function in erythropoiesis

por Zhang, Shuping, Macias-Garcia, Alejandra, Ulirsch, Jacob C, Velazquez, Jason, Butty, Vincent L, Levine, Stuart S, Sankaran, Vijay G, Chen, Jane-Jane
Publicado 2019

Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation

por Khetan, Shubham, Kales, Susan, Kursawe, Romy, Jillette, Alexandria, Ulirsch, Jacob C., Reilly, Steven K., Ucar, Duygu, Tewhey, Ryan, Stitzel, Michael L.
Publicado 2021

Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia

por Steinberg-Shemer, Orna, Ulirsch, Jacob C., Noy-Lotan, Sharon, Krasnov, Tanya, Attias, Dina, Dgany, Orly, Laor, Ruth, Sankaran, Vijay G., Tamary, Hannah
Publicado 2017

Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia

por Lacy, Jessica N., Ulirsch, Jacob C., Grace, Rachael F., Towne, Meghan C., Hale, John, Mohandas, Narla, Lux, Samuel E., Agrawal, Pankaj B., Sankaran, Vijay G.
Publicado 2016

Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis

por Ludwig, Leif S., Lareau, Caleb A., Bao, Erik L., Nandakumar, Satish K., Muus, Christoph, Ulirsch, Jacob C., Chowdhary, Kaitavjeet, Buenrostro, Jason D., Mohandas, Narla, An, Xiuli, Aryee, Martin J., Regev, Aviv, Sankaran, Vijay G.
Publicado 2019

Interrogation of human hematopoiesis at single-cell and single-variant resolution

por Ulirsch, Jacob C., Lareau, Caleb A., Bao, Erik L., Ludwig, Leif S., Guo, Michael H., Benner, Christian, Satpathy, Ansuman T., Kartha, Vinay K., Salem, Rany M., Hirschhorn, Joel N., Finucane, Hilary K., Aryee, Martin J., Buenrostro, Jason D., Sankaran, Vijay G.
Publicado 2019

Tractor uses local ancestry to enable inclusion of admixed individuals into GWAS and boost power

por Atkinson, Elizabeth G., Maihofer, Adam X., Kanai, Masahiro, Martin, Alicia R., Karczewski, Konrad J., Santoro, Marcos L., Ulirsch, Jacob C., Kamatani, Yoichiro, Okada, Yukinori, Finucane, Hilary K., Koenen, Karestan C., Nievergelt, Caroline M., Daly, Mark J., Neale, Benjamin M.
Publicado 2021

Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features

por Ray, John P., de Boer, Carl G., Fulco, Charles P., Lareau, Caleb A., Kanai, Masahiro, Ulirsch, Jacob C., Tewhey, Ryan, Ludwig, Leif S., Reilly, Steven K., Bergman, Drew T., Engreitz, Jesse M., Issner, Robbyn, Finucane, Hilary K., Lander, Eric S., Regev, Aviv, Hacohen, Nir
Publicado 2020

RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation

por Martell, Danya J., Merens, Hope E., Fiorini, Claudia, Caulier, Alexis, Ulirsch, Jacob C., Ietswaart, Robert, Choquet, Karine, Graziadei, Giovanna, Brancaleoni, Valentina, Cappellini, Maria Domenica, Scott, Caroline, Roberts, Nigel, Proven, Melanie, Roy, Noémi BA, Babbs, Christian, Higgs, Douglas R., Sankaran, Vijay G., Churchman, L. Stirling
Publicado 2023

Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis

por Nandakumar, Satish K, McFarland, Sean K, Mateyka, Laura M, Lareau, Caleb A, Ulirsch, Jacob C, Ludwig, Leif S, Agarwal, Gaurav, Engreitz, Jesse M, Przychodzen, Bartlomiej, McConkey, Marie, Cowley, Glenn S, Doench, John G, Maciejewski, Jaroslaw P, Ebert, Benjamin L, Root, David E, Sankaran, Vijay G
Publicado 2019

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

por Reshef, Yakir A, Finucane, Hilary K, Kelley, David R, Gusev, Alexander, Kotliar, Dylan, Ulirsch, Jacob C, Hormozdiari, Farhad, Nasser, Joseph, O’Connor, Luke, van de Geijn, Bryce, Loh, Po-Ru, Grossman, Sharon R, Bhatia, Gaurav, Gazal, Steven, Palamara, Pier Francesco, Pinello, Luca, Patterson, Nick, Adams, Ryan P, Price, Alkes L
Publicado 2018

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

por Abdulhay, Nour J., Fiorini, Claudia, Verboon, Jeffrey M., Ludwig, Leif S., Ulirsch, Jacob C., Zieger, Barbara, Lareau, Caleb A., Mi, Xiaoli, Roy, Anindita, Obeng, Esther A., Erlacher, Miriam, Gupta, Namrata, Gabriel, Stacey B., Ebert, Benjamin L., Niemeyer, Charlotte M., Khoriaty, Rami N., Ancliff, Philip, Gazda, Hanna T., Wlodarski, Marcin W., Sankaran, Vijay G.
Publicado 2019

Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation

por Basak, Anindita, Munschauer, Mathias, Lareau, Caleb A., Montbleau, Kara E., Ulirsch, Jacob C., Hartigan, Christina R., Schenone, Monica, Lian, John, Wang, Yaomei, Huang, Yumin, Wu, Xianfang, Gehrke, Lee, Rice, Charles M., An, Xiuli, Christou, Helen A., Mohandas, Narla, Carr, Steven A., Chen, Jane-Jane, Orkin, Stuart H., Lander, Eric S., Sankaran, Vijay G.
Publicado 2020

Rare penetrant mutations confer severe risk of common diseases

por Fiziev, Petko, McRae, Jeremy, Ulirsch, Jacob C., Dron, Jacqueline S., Hamp, Tobias, Yang, Yanshen, Wainschtein, Pierrick, Ni, Zijian, Schraiber, Joshua G., Gao, Hong, Cable, Dylan, Field, Yair, Aguet, Francois, Fasnacht, Marc, Metwally, Ahmed, Rogers, Jeffrey, Marques-Bonet, Tomas, Rehm, Heidi L., O’Donnell-Luria, Anne, Khera, Amit V., Kai-How Farh, Kyle
Publicado 2023

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease

por Raffield, Laura M., Ulirsch, Jacob C., Naik, Rakhi P., Lessard, Samuel, Handsaker, Robert E., Jain, Deepti, Kang, Hyun M., Pankratz, Nathan, Auer, Paul L., Bao, Erik L., Smith, Joshua D., Lange, Leslie A., Lange, Ethan M., Li, Yun, Thornton, Timothy A., Young, Bessie A., Abecasis, Goncalo R., Laurie, Cathy C., Nickerson, Deborah A., McCarroll, Steven A., Correa, Adolfo, Wilson, James G., Lettre, Guillaume, Sankaran, Vijay G., Reiner, Alex P.
Publicado 2018

Genetic predisposition to mosaic Y chromosome loss in blood

por Thompson, Deborah J., Genovese, Giulio, Halvardson, Jonatan, Ulirsch, Jacob C., Wright, Daniel J., Terao, Chikashi, Davidsson, Olafur B., Day, Felix R., Sulem, Patrick, Jiang, Yunxuan, Danielsson, Marcus, Davies, Hanna, Dennis, Joe, Dunlop, Malcolm G., Easton, Douglas F., Fisher, Victoria A., Zink, Florian, Houlston, Richard S., Ingelsson, Martin, Kar, Siddhartha, Kerrison, Nicola D., Kinnersley, Ben, Kristjansson, Ragnar P., Law, Philip J., Li, Rong, Loveday, Chey, Mattisson, Jonas, McCarroll, Steven A., Murakami, Yoshinori, Murray, Anna, Olszewski, Pawel, Rychlicka-Buniowska, Edyta, Scott, Robert A., Thorsteinsdottir, Unnur, Tomlinson, Ian, Torabi Moghadam, Behrooz, Turnbull, Clare, Wareham, Nicholas J., Gudbjartsson, Daniel F., Kamatani, Yoichiro, Hoffmann, Eva R., Jackson, Steve P., Stefansson, Kari, Auton, Adam, Ong, Ken K., Machiela, Mitchell J., Loh, Po-Ru, Dumanski, Jan P., Chanock, Stephen J., Forsberg, Lars A., Perry, John R. B.
Publicado 2019

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

por Aragam, Krishna G., Jiang, Tao, Goel, Anuj, Kanoni, Stavroula, Wolford, Brooke N., Atri, Deepak S., Weeks, Elle M., Wang, Minxian, Hindy, George, Zhou, Wei, Grace, Christopher, Roselli, Carolina, Marston, Nicholas A., Kamanu, Frederick K., Surakka, Ida, Venegas, Loreto Muñoz, Sherliker, Paul, Koyama, Satoshi, Ishigaki, Kazuyoshi, Åsvold, Bjørn O., Brown, Michael R., Brumpton, Ben, de Vries, Paul S., Giannakopoulou, Olga, Giardoglou, Panagiota, Gudbjartsson, Daniel F., Güldener, Ulrich, Haider, Syed M. Ijlal, Helgadottir, Anna, Ibrahim, Maysson, Kastrati, Adnan, Kessler, Thorsten, Kyriakou, Theodosios, Konopka, Tomasz, Li, Ling, Ma, Lijiang, Meitinger, Thomas, Mucha, Sören, Munz, Matthias, Murgia, Federico, Nielsen, Jonas B., Nöthen, Markus M., Pang, Shichao, Reinberger, Tobias, Schnitzler, Gavin, Smedley, Damian, Thorleifsson, Gudmar, von Scheidt, Moritz, Ulirsch, Jacob C., Arnar, David O., Burtt, Noël P., Costanzo, Maria C., Flannick, Jason, Ito, Kaoru, Jang, Dong-Keun, Kamatani, Yoichiro, Khera, Amit V., Komuro, Issei, Kullo, Iftikhar J., Lotta, Luca A., Nelson, Christopher P., Roberts, Robert, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Webb, Thomas R., Baras, Aris, Björkegren, Johan L. M., Boerwinkle, Eric, Dedoussis, George, Holm, Hilma, Hveem, Kristian, Melander, Olle, Morrison, Alanna C., Orho-Melander, Marju, Rallidis, Loukianos S., Ruusalepp, Arno, Sabatine, Marc S., Stefansson, Kari, Zalloua, Pierre, Ellinor, Patrick T., Farrall, Martin, Danesh, John, Ruff, Christian T., Finucane, Hilary K., Hopewell, Jemma C., Clarke, Robert, Gupta, Rajat M., Erdmann, Jeanette, Samani, Nilesh J., Schunkert, Heribert, Watkins, Hugh, Willer, Cristen J., Deloukas, Panos, Kathiresan, Sekar, Butterworth, Adam S.
Publicado 2022

Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population

por Kurki, Mitja I., Karjalainen, Juha, Palta, Priit, Sipilä, Timo P., Kristiansson, Kati, Donner, Kati M., Reeve, Mary P., Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A., Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A., Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O., Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G., Sun, Benjamin, Foley, Christopher N., Aalto-Setälä, Katriina, Alasoo, Kaur, Arvas, Mikko, Auro, Kirsi, Biswas, Shameek, Bizaki-Vallaskangas, Argyro, Carpen, Olli, Chen, Chia-Yen, Dada, Oluwaseun A., Ding, Zhihao, Ehm, Margaret G., Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Graham, Robert R., Green, Eric M., Hakanen, Antti, Hautalahti, Marco, Hedman, Åsa K., Hiltunen, Mikko, Hinttala, Reetta, Hovatta, Iiris, Hu, Xinli, Huertas-Vazquez, Adriana, Huilaja, Laura, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Julkunen, Valtteri, Jung, Marc, Junttila, Juhani, Kaarniranta, Kai, Kähönen, Mika, Kajanne, Risto, Kallio, Lila, Kälviäinen, Reetta, Kaprio, Jaakko, Kerimov, Nurlan, Kettunen, Johannes, Kilpeläinen, Elina, Kilpi, Terhi, Klinger, Katherine, Kosma, Veli-Matti, Kuopio, Teijo, Kurra, Venla, Laisk, Triin, Laukkanen, Jari, Lawless, Nathan, Liu, Aoxing, Longerich, Simonne, Mägi, Reedik, Mäkelä, Johanna, Mäkitie, Antti, Malarstig, Anders, Mannermaa, Arto, Maranville, Joseph, Matakidou, Athena, Meretoja, Tuomo, Mozaffari, Sahar V., Niemi, Mari E. K., Niemi, Marianna, Niiranen, Teemu, O´Donnell, Christopher J., Obeidat, Ma´en, Okafo, George, Ollila, Hanna M., Palomäki, Antti, Palotie, Tuula, Partanen, Jukka, Paul, Dirk S., Pelkonen, Margit, Pendergrass, Rion K., Petrovski, Slavé, Pitkäranta, Anne, Platt, Adam, Pulford, David, Punkka, Eero, Pussinen, Pirkko, Raghavan, Neha, Rahimov, Fedik, Rajpal, Deepak, Renaud, Nicole A., Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Saarentaus, Elmo, Salminen, Aino, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-yi, Siegel, Richard, Silander, Kaisa, Siltanen, Sanna, Soini, Sirpa, Soininen, Hilkka, Sul, Jae Hoon, Tachmazidou, Ioanna, Tasanen, Kaisa, Tienari, Pentti, Toppila-Salmi, Sanna, Tukiainen, Taru, Tuomi, Tiinamaija, Turunen, Joni A., Ulirsch, Jacob C., Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Reigo, Anu, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Fox, Caroline, Havulinna, Aki S., Perola, Markus, Ripatti, Samuli, Jalanko, Anu, Laitinen, Tarja, Mäkelä, Tomi P., Plenge, Robert, McCarthy, Mark, Runz, Heiko, Daly, Mark J., Palotie, Aarno
Publicado 2023

FinnGen provides genetic insights from a well-phenotyped isolated population

por Kurki, Mitja I., Karjalainen, Juha, Palta, Priit, Sipilä, Timo P., Kristiansson, Kati, Donner, Kati M., Reeve, Mary P., Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A., Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A., Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O., Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G., Sun, Benjamin, Foley, Christopher N., Aalto-Setälä, Katriina, Alasoo, Kaur, Arvas, Mikko, Auro, Kirsi, Biswas, Shameek, Bizaki-Vallaskangas, Argyro, Carpen, Olli, Chen, Chia-Yen, Dada, Oluwaseun A., Ding, Zhihao, Ehm, Margaret G., Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Graham, Robert R., Green, Eric M., Hakanen, Antti, Hautalahti, Marco, Hedman, Åsa K., Hiltunen, Mikko, Hinttala, Reetta, Hovatta, Iiris, Hu, Xinli, Huertas-Vazquez, Adriana, Huilaja, Laura, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Julkunen, Valtteri, Jung, Marc, Junttila, Juhani, Kaarniranta, Kai, Kähönen, Mika, Kajanne, Risto, Kallio, Lila, Kälviäinen, Reetta, Kaprio, Jaakko, Kerimov, Nurlan, Kettunen, Johannes, Kilpeläinen, Elina, Kilpi, Terhi, Klinger, Katherine, Kosma, Veli-Matti, Kuopio, Teijo, Kurra, Venla, Laisk, Triin, Laukkanen, Jari, Lawless, Nathan, Liu, Aoxing, Longerich, Simonne, Mägi, Reedik, Mäkelä, Johanna, Mäkitie, Antti, Malarstig, Anders, Mannermaa, Arto, Maranville, Joseph, Matakidou, Athena, Meretoja, Tuomo, Mozaffari, Sahar V., Niemi, Mari E. K., Niemi, Marianna, Niiranen, Teemu, O´Donnell, Christopher J., Obeidat, Ma´en, Okafo, George, Ollila, Hanna M., Palomäki, Antti, Palotie, Tuula, Partanen, Jukka, Paul, Dirk S., Pelkonen, Margit, Pendergrass, Rion K., Petrovski, Slavé, Pitkäranta, Anne, Platt, Adam, Pulford, David, Punkka, Eero, Pussinen, Pirkko, Raghavan, Neha, Rahimov, Fedik, Rajpal, Deepak, Renaud, Nicole A., Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Saarentaus, Elmo, Salminen, Aino, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-yi, Siegel, Richard, Silander, Kaisa, Siltanen, Sanna, Soini, Sirpa, Soininen, Hilkka, Sul, Jae Hoon, Tachmazidou, Ioanna, Tasanen, Kaisa, Tienari, Pentti, Toppila-Salmi, Sanna, Tukiainen, Taru, Tuomi, Tiinamaija, Turunen, Joni A., Ulirsch, Jacob C., Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Reigo, Anu, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Fox, Caroline, Havulinna, Aki S., Perola, Markus, Ripatti, Samuli, Jalanko, Anu, Laitinen, Tarja, Mäkelä, Tomi P., Plenge, Robert, McCarthy, Mark, Runz, Heiko, Daly, Mark J., Palotie, Aarno
Publicado 2023