Cellular and molecular mechanisms underlying muscular dystrophy

por Rahimov, Fedik, Kunkel, Louis M.
Publicado 2013

Telomere Position Effect (TPE) Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy (FSHD)

por Stadler, Guido, Rahimov, Fedik, King, Oliver D., Chen, Jennifer C. J., Robin, Jerome D., Wagner, Kathryn R., Shay, Jerry W., Emerson, Charles P., Wright, Woodring E.
Publicado 2013

Comparative RNA Editing in Autistic and Neurotypical Cerebella

por Eran, Alal, Li, Jin Billy, Vatalaro, Kayla, McCarthy, Jillian, Rahimov, Fedik, Collins, Christin, Markianos, Kyriacos, Margulies, David M., Brown, Emery N., Calvo, Sarah E., Kohane, Isaac S., Kunkel, Louis M.
Publicado 2012

Functional characterization of a single nucleotide polymorphism associated with Alzheimer’s disease in a hiPSC-based neuron model

por Stolzenburg, Lindsay R., Esmaeeli, Sahar, Kulkarni, Ameya S., Murphy, Erin, Kwon, Taekyung, Preiss, Christina, Bahnassawy, Lamiaa, Stender, Joshua D., Manos, Justine D., Reinhardt, Peter, Rahimov, Fedik, Waring, Jeffrey F., Ramathal, Cyril Y.
Publicado 2023

Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease

por Palmer, Nathan P., Silvester, Jocelyn A., Lee, Jessica J., Beam, Andrew L., Fried, Inbar, Valtchinov, Vladimir I., Rahimov, Fedik, Kong, Sek Won, Ghodoussipour, Saum, Hood, Helen C., Bousvaros, Athos, Grand, Richard J., Kunkel, Louis M., Kohane, Isaac S.
Publicado 2019

Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate

por Vieira, Alexandre R, Avila, Joseph R, Daack-Hirsch, Sandra, Dragan, Ecaterina, Félix, Têmis M, Rahimov, Fedik, Harrington, Jill, Schultz, Rebecca R, Watanabe, Yoriko, Johnson, Marla, Fang, Jennifer, O'Brien, Sarah E, Orioli, Iêda M, Castilla, Eduardo E, FitzPatrick, David R, Jiang, Rulang, Marazita, Mary L, Murray, Jeffrey C
Publicado 2005

Disruption of an AP-2α binding site in an IRF6 enhancer is strongly associated with cleft lip

por Rahimov, Fedik, Marazita, Mary L., Visel, Axel, Cooper, Margaret E., Hitchler, Michael J., Rubini, Michele, Domann, Frederick E., Govil, Manika, Christensen, Kaare, Bille, Camille, Melbye, Mads, Jugessur, Astanand, Lie, Rolv T., Wilcox, Allen J., Fitzpatrick, David R., Green, Eric D., Mossey, Peter A., Little, Julian, Steegers-Theunissen, Regine P., Pennacchio, Len A., Schutte, Brian C., Murray, Jeffrey C.
Publicado 2008

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

por 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.
Publicado 2015

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

por Karczewski, Konrad J., Solomonson, Matthew, Chao, Katherine R., Goodrich, Julia K., Tiao, Grace, Lu, Wenhan, Riley-Gillis, Bridget M., Tsai, Ellen A., Kim, Hye In, Zheng, Xiuwen, Rahimov, Fedik, Esmaeeli, Sahar, Grundstad, A. Jason, Reppell, Mark, Waring, Jeff, Jacob, Howard, Sexton, David, Bronson, Paola G., Chen, Xing, Hu, Xinli, Goldstein, Jacqueline I., King, Daniel, Vittal, Christopher, Poterba, Timothy, Palmer, Duncan S., Churchhouse, Claire, Howrigan, Daniel P., Zhou, Wei, Watts, Nicholas A., Nguyen, Kevin, Nguyen, Huy, Mason, Cara, Farnham, Christopher, Tolonen, Charlotte, Gauthier, Laura D., Gupta, Namrata, MacArthur, Daniel G., Rehm, Heidi L., Seed, Cotton, Philippakis, Anthony A., Daly, Mark J., Davis, J. Wade, Runz, Heiko, Miller, Melissa R., Neale, Benjamin M.
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