A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

por Rajagopalan, Ramakrishnan, Murrell, Jill R., Luo, Minjie, Conlin, Laura K.
Publicado 2020

Selenium level and depressive symptoms in a rural elderly Chinese cohort

por Gao, Sujuan, Jin, Yinlong, Unverzagt, Frederick W, Liang, Chaoke, Hall, Kathleen S, Cao, Jingxiang, Ma, Feng, Murrell, Jill R, Cheng, Yibin, Li, Ping, Bian, Jianchao, Hendrie, Hugh C
Publicado 2012

The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family

por Spina, Salvatore, Farlow, Martin R., Unverzagt, Frederick W., Kareken, David A., Murrell, Jill R., Fraser, Graham, Epperson, Francine, Crowther, R. Anthony, Spillantini, Maria G., Goedert, Michel, Ghetti, Bernardino
Publicado 2008

Mutation ∆K281 in MAPT causes Pick’s disease

por Schweighauser, Manuel, Garringer, Holly J., Klingstedt, Therése, Nilsson, K. Peter R., Masuda-Suzukake, Masami, Murrell, Jill R., Risacher, Shannon L., Vidal, Ruben, Scheres, Sjors H. W., Goedert, Michel, Ghetti, Bernardino, Newell, Kathy L.
Publicado 2023

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings

por Oblak, Adrian L., Hagen, Matthew C., Sweadner, Kathleen J., Haq, Ihtsham, Whitlow, Christopher T., Maldjian, Joseph A., Epperson, Francine, Cook, Jared F., Stacy, Mark, Murrell, Jill R., Ozelius, Laurie J., Brashear, Allison, Ghetti, Bernardino
Publicado 2014

Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [(18)F]Flortaucipir PET

por Risacher, Shannon L., Farlow, Martin R., Bateman, Daniel R., Epperson, Francine, Tallman, Eileen F., Richardson, Rose, Murrell, Jill R., Unverzagt, Frederick W., Apostolova, Liana G., Bonnin, Jose M., Ghetti, Bernardino, Saykin, Andrew J.
Publicado 2018

The relationship between cholesterol and cognitive function is homocysteine-dependent

por Cheng, Yibin, Jin, Yinlong, Unverzagt, Frederick W, Su, Liqin, Yang, Lili, Ma, Feng, Hake, Ann M, Kettler, Carla, Chen, Chen, Liu, Jingyi, Bian, Jianchao, Li, Ping, Murrell, Jill R, Hendrie, Hugh C, Gao, Sujuan
Publicado 2014

The Tau Tubulin Kinases TTBK1/2 Promote Accumulation of Pathological TDP-43

por Liachko, Nicole F., McMillan, Pamela J., Strovas, Timothy J., Loomis, Elaine, Greenup, Lynne, Murrell, Jill R., Ghetti, Bernardino, Raskind, Murray A., Montine, Thomas J., Bird, Thomas D., Leverenz, James B., Kraemer, Brian C.
Publicado 2014

Cognitive function, body mass index and mortality in a rural elderly Chinese cohort

por Gao, Sujuan, Jin, Yinlong, Unverzagt, Frederick W, Cheng, Yibin, Su, Liqin, Wang, Chenkun, Ma, Feng, Hake, Ann M, Kettler, Carla, Chen, Chen, Liu, Jingyi, Bian, Jianchao, Li, Ping, Murrell, Jill R, Clark, Daniel O, Hendrie, Hugh C
Publicado 2014

Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein

por Ehrlich, Marc, Hallmann, Anna-Lena, Reinhardt, Peter, Araúzo-Bravo, Marcos J., Korr, Sabrina, Röpke, Albrecht, Psathaki, Olympia E., Ehling, Petra, Meuth, Sven G., Oblak, Adrian L., Murrell, Jill R., Ghetti, Bernardino, Zaehres, Holm, Schöler, Hans R., Sterneckert, Jared, Kuhlmann, Tanja, Hargus, Gunnar
Publicado 2015

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

por Stevens, Servi J. C., Stumpel, Constance T. R. M., Diderich, Karin E. M., van Slegtenhorst, Marjon A., Abbott, Mary‐Alice, Manning, Courtney, Balciuniene, Jorune, Pyle, Louise C., Leonard, Jacqueline, Murrell, Jill R., van de Putte, Romy, van Rooij, Iris A. L. M., Hoischen, Alexander, Lasko, Paul, Brunner, Han G.
Publicado 2021

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

por Murrell, Jill R., Nesbitt, Addie May I., Baker, Samuel W., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wu, Chao, Jayaraman, Pushkala, Cao, Kajia, Gonzalez, Michael, Devoto, Marcella, Testori, Alessandro, Monos, John D., Dulik, Matthew C., Conlin, Laura K., Luo, Minjie, McDonald Gibson, Kristin, Guan, Qiaoning, Sarmady, Mahdi, Bhoj, Elizabeth, Helbig, Ingo, Zackai, Elaine H., Bedoukian, Emma C., Wilkens, Alisha, Tarpinian, Jennifer, Izumi, Kosuke, Skraban, Cara M., Deardorff, Matthew A., Medne, Livija, Krantz, Ian D., Krock, Bryan L., Santani, Avni B.
Publicado 2022

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

por Sharma, Mehul, Leung, Daniel, Momenilandi, Mana, Jones, Lauren C.W., Pacillo, Lucia, James, Alyssa E., Murrell, Jill R., Delafontaine, Selket, Maimaris, Jesmeen, Vaseghi-Shanjani, Maryam, Del Bel, Kate L., Lu, Henry Y., Chua, Gilbert T., Di Cesare, Silvia, Fornes, Oriol, Liu, Zhongyi, Di Matteo, Gigliola, Fu, Maggie P., Amodio, Donato, Tam, Issan Yee San, Chan, Gavin Shueng Wai, Sharma, Ashish A., Dalmann, Joshua, van der Lee, Robin, Blanchard-Rohner, Géraldine, Lin, Susan, Philippot, Quentin, Richmond, Phillip A., Lee, Jessica J., Matthews, Allison, Seear, Michael, Turvey, Alexandra K., Philips, Rachael L., Brown-Whitehorn, Terri F., Gray, Christopher J., Izumi, Kosuke, Treat, James R., Wood, Kathleen H., Lack, Justin, Khleborodova, Asya, Niemela, Julie E., Yang, Xingtian, Liang, Rui, Kui, Lin, Wong, Christina Sze Man, Poon, Grace Wing Kit, Hoischen, Alexander, van der Made, Caspar I., Yang, Jing, Chan, Koon Wing, Rosa Duque, Jaime Sou Da, Lee, Pamela Pui Wah, Ho, Marco Hok Kung, Chung, Brian Hon Yin, Le, Huong Thi Minh, Yang, Wanling, Rohani, Pejman, Fouladvand, Ali, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Miryounesi, Mohammad, Puel, Anne, Shahrooei, Mohammad, Finocchi, Andrea, Rossi, Paolo, Rivalta, Beatrice, Cifaldi, Cristina, Novelli, Antonio, Passarelli, Chiara, Arasi, Stefania, Bullens, Dominique, Sauer, Kate, Claeys, Tania, Biggs, Catherine M., Morris, Emma C., Rosenzweig, Sergio D., O’Shea, John J., Wasserman, Wyeth W., Bedford, H. Melanie, van Karnebeek, Clara D.M., Palma, Paolo, Burns, Siobhan O., Meyts, Isabelle, Casanova, Jean-Laurent, Lyons, Jonathan J., Parvaneh, Nima, Nguyen, Anh Thi Van, Cancrini, Caterina, Heimall, Jennifer, Ahmed, Hanan, McKinnon, Margaret L., Lau, Yu Lung, Béziat, Vivien, Turvey, Stuart E.
Publicado 2023

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

por Van Deerlin, Vivianna M., Sleiman, Patrick M. A., Martinez-Lage, Maria, Chen-Plotkin, Alice, Wang, Li-San, Graff-Radford, Neill R, Dickson, Dennis W., Rademakers, Rosa, Boeve, Bradley F., Grossman, Murray, Arnold, Steven E., Mann, David M.A., Pickering-Brown, Stuart M., Seelaar, Harro, Heutink, Peter, van Swieten, John C., Murrell, Jill R., Ghetti, Bernardino, Spina, Salvatore, Grafman, Jordan, Hodges, John, Spillantini, Maria Grazia, Gilman, Sid', Lieberman, Andrew P., Kaye, Jeffrey A., Woltjer, Randall L., Bigio, Eileen H, Mesulam, Marsel, al-Sarraj, Safa, Troakes, Claire, Rosenberg, Roger N., White, Charles L., Ferrer, Isidro, Lladó, Albert, Neumann, Manuela, Kretzschmar, Hans A., Hulette, Christine Marie, Welsh-Bohmer, Kathleen A., Miller, Bruce L, Alzualde, Ainhoa, de Munain, Adolfo Lopez, McKee, Ann C., Gearing, Marla, Levey, Allan I., Lah, James J., Hardy, John, Rohrer, Jonathan D., Lashley, Tammaryn, Mackenzie, Ian R.A., Feldman, Howard H., Hamilton, Ronald L., Dekosky, Steven T., van der Zee, Julie, Kumar-Singh, Samir, Van Broeckhoven, Christine, Mayeux, Richard, Vonsattel, Jean Paul G., Troncoso, Juan C., Kril, Jillian J, Kwok, John B.J., Halliday, Glenda M., Bird, Thomas D., Ince, Paul G., Shaw, Pamela J., Cairns, Nigel J., Morris, John C., McLean, Catriona Ann, DeCarli, Charles, Ellis, William G., Freeman, Stefanie H., Frosch, Matthew P., Growdon, John H., Perl, Daniel P., Sano, Mary, Bennett, David A., Schneider, Julie A., Beach, Thomas G., Reiman, Eric M., Woodruff, Bryan K., Cummings, Jeffrey, Vinters, Harry V., Miller, Carol A., Chui, Helena C., Alafuzoff, Irina, Hartikainen, Päivi, Seilhean, Danielle, Galasko, Douglas, Masliah, Eliezer, Cotman, Carl W., Tuñón, M. Teresa, Martínez, M. Cristina Caballero, Munoz, David G., Carroll, Steven L., Marson, Daniel, Riederer, Peter F., Bogdanovic, Nenad, Schellenberg, Gerard D., Hakonarson, Hakon, Trojanowski, John Q., Lee, Virginia M.-Y.
Publicado 2010

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

por Whitcomb, David C., LaRusch, Jessica, Krasinskas, Alyssa M., Klei, Lambertus, Smith, Jill P., Brand, Randall E., Neoptolemos, John P., Lerch, Markus M., Tector, Matt, Sandhu, Bimaljit S., Guda, Nalini M., Orlichenko, Lidiya, Alkaade, Samer, Amann, Stephen T., Anderson, Michelle A., Baillie, John, Banks, Peter A., Conwell, Darwin, Coté, Gregory A., Cotton, Peter B., DiSario, James, Farrer, Lindsay A., Forsmark, Chris E., Johnstone, Marianne, Gardner, Timothy B., Gelrud, Andres, Greenhalf, William, Haines, Jonathan L., Hartman, Douglas J., Hawes, Robert A., Lawrence, Christopher, Lewis, Michele, Mayerle, Julia, Mayeux, Richard, Melhem, Nadine M., Money, Mary E., Muniraj, Thiruvengadam, Papachristou, Georgios I., Pericak-Vance, Margaret A., Romagnuolo, Joseph, Schellenberg, Gerard D., Sherman, Stuart, Simon, Peter, Singh, Vijay K., Slivka, Adam, Stolz, Donna, Sutton, Robert, Weiss, Frank Ulrich, Wilcox, C. Mel, Zarnescu, Narcis Octavian, Wisniewski, Stephen R., O'Connell, Michael R., Kienholz, Michelle L., Roeder, Kathryn, Barmada, M. Michael, Yadav, Dhiraj, Devlin, Bernie, Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Baldwin, Clinton T., Barber, Robert, Barnes, Lisa L., Beach, Thomas G., Beecham, Gary W., Beekly, Duane, Bennett, David A., Bigio, Eileen H., Bird, Thomas D., Blacker, Deborah, Boxer, Adam, Burke, James R., Buxbaum, Joseph D., Cairns, Nigel J., Cantwell, Laura B., Cao, Chuanhai, Carney, Regina M., Carroll, Steven L., Chui, Helena C., Clark, David G., Cribbs, David H., Crocco, Elizabeth A., Cruchaga, Carlos, DeCarli, Charles, Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Duara, Ranjan, Ertekin-Taner, Nilufer, Faber, Kelley M., Fallon, Kenneth B., Farlow, Martin R., Ferris, Steven, Foroud, Tatiana M., Frosch, Matthew P., Galasko, Douglas R., Ganguli, Mary, Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Gilman, Sid, Glass, Jonathan D., Goate, Alison M., Graff-Radford, Neill R., Green, Robert C., Growdon, John H., Hakonarson, Hakon, Hamilton-Nelson, Kara L., Hamilton, Ronald L., Harrell, Lindy E., Head, Elizabeth, Honig, Lawrence S., Hulette, Christine M., Hyman, Bradley T., Jicha, Gregory A., Jin, Lee-Way, Jun, Gyungah, Kamboh, M. Ilyas, Karydas, Anna, Kaye, Jeffrey A., Kim, Ronald, Koo, Edward H., Kowall, Neil W., Kramer, Joel H., Kramer, Patricia, Kukull, Walter A., LaFerla, Frank M., Lah, James J., Leverenz, James B., Levey, Allan I., Li, Ge, Lin, Chiao-Feng, Lieberman, Andrew P., Lopez, Oscar L., Lunetta, Kathryn L., Lyketsos, Constantine G., Mack, Wendy J., Marson, Daniel C., Martin, Eden R., Martiniuk, Frank, Mash, Deborah C., Masliah, Eliezer, McKee, Ann C., Mesulam, Marsel, Miller, Bruce L., Miller, Carol A., Miller, Joshua W., Montine, Thomas J., Morris, John C., Murrell, Jill R., Naj, Adam C., Olichney, John M., Parisi, Joseph E., Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raskind, Murray, Reiman, Eric M., Reisberg, Barry, Reitz, Christiane, Ringman, John M., Roberson, Erik D., Rosen, Howard J., Rosenberg, Roger N., Sano, Mary, Saykin, Andrew J., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Tanzi, Rudolph E., Trojanowski, John Q., Troncoso, Juan C., Tsuang, Debby W., Valladares, Otto, Van Deerlin, Vivianna M., Van Eldik, Linda J., Vardarajan, Badri N., Vinters, Harry V., Vonsattel, Jean Paul, Wang, Li-San, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Williamson, Jennifer, Woltjer, Randall L., Wright, Clinton B., Younkin, Steven G., Yu, Chang-En, Yu, Lei
Publicado 2012