Antisense oligonucleotides: A primer

por Scoles, Daniel R., Minikel, Eric V., Pulst, Stefan M.
Publicado 2019

Analysis of non-human primate models for evaluating prion disease therapeutic efficacy

por Mortberg, Meredith A., Minikel, Eric Vallabh, Vallabh, Sonia M.
Publicado 2022

Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials

por Mortberg, Meredith A., Vallabh, Sonia M., Minikel, Eric Vallabh
Publicado 2022

ClinVar data parsing

por Zhang, Xiaolei, Minikel, Eric V., O'Donnell-Luria, Anne H., MacArthur, Daniel G., Ware, James S., Weisburd, Ben
Publicado 2017

Strictly co-isogenic C57BL/6J-Prnp(−/−) mice: A rigorous resource for prion science

por Nuvolone, Mario, Hermann, Mario, Sorce, Silvia, Russo, Giancarlo, Tiberi, Cinzia, Schwarz, Petra, Minikel, Eric, Sanoudou, Despina, Pelczar, Pawel, Aguzzi, Adriano
Publicado 2016

Characterization of the Prion Protein Binding Properties of Antisense Oligonucleotides

por Reidenbach, Andrew G., Minikel, Eric Vallabh, Zhao, Hien T., Guzman, Stacy G., Leed, Alison J., Mesleh, Michael F., Kordasiewicz, Holly B., Schreiber, Stuart L., Vallabh, Sonia M.
Publicado 2019

Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease

por Vallabh, Sonia M., Zou, Dan, Pitstick, Rose, O’Moore, Jill, Peters, Janet, Silvius, Derek, Kriz, Jasna, Jackson, Walker S., Carlson, George A., Minikel, Eric Vallabh, Cabin, Deborah E.
Publicado 2023

Using high-resolution variant frequencies to empower clinical genome interpretation

por Whiffin, Nicola, Minikel, Eric, Walsh, Roddy, O’Donnell-Luria, Anne H, Karczewski, Konrad, Ing, Alexander Y, Barton, Paul J R, Funke, Birgit, Cook, Stuart A, MacArthur, Daniel, Ware, James S
Publicado 2017

A single-cell map of antisense oligonucleotide activity in the brain

por Mortberg, Meredith A, Gentile, Juliana E, Nadaf, Naeem, Vanderburg, Charles, Simmons, Sean, Dubinsky, Dan, Slamin, Adam, Maldonado, Salome, Petersen, Caroline L, Jones, Nichole, Kordasiewicz, Holly B, Zhao, Hien T, Vallabh, Sonia M, Minikel, Eric Vallabh
Publicado 2023

A single-cell map of antisense oligonucleotide activity in the brain

por Mortberg, Meredith A, Gentile, Juliana E, Nadaf, Naeem M, Vanderburg, Charles, Simmons, Sean, Dubinsky, Dan, Slamin, Adam, Maldonado, Salome, Petersen, Caroline L, Jones, Nichole, Kordasiewicz, Holly B, Zhao, Hien T, Vallabh, Sonia M, Minikel, Eric Vallabh
Publicado 2023

Evaluating drug targets through human loss-of-function genetic variation

por Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schreiber, Stuart L., MacArthur, Daniel G.
Publicado 2020

Author Correction: Evaluating drug targets through human loss-of-function genetic variation

por Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schreiber, Stuart L., MacArthur, Daniel G.
Publicado 2021

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

por Walsh, Roddy, Thomson, Kate L., Ware, James S., Funke, Birgit H., Woodley, Jessica, McGuire, Karen J., Mazzarotto, Francesco, Blair, Edward, Seller, Anneke, Taylor, Jenny C., Minikel, Eric V., Exome Aggregation Consortium, MacArthur, Daniel G., Farrall, Martin, Cook, Stuart A., Watkins, Hugh
Publicado 2017

Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease

por Vallabh, Sonia M., Minikel, Eric Vallabh, Williams, Victoria J., Carlyle, Becky C., McManus, Alison J., Wennick, Chase D., Bolling, Anna, Trombetta, Bianca A., Urick, David, Nobuhara, Chloe K., Gerber, Jessica, Duddy, Holly, Lachmann, Ingolf, Stehmann, Christiane, Collins, Steven J., Blennow, Kaj, Zetterberg, Henrik, Arnold, Steven E.
Publicado 2020

Regional variability and genotypic and pharmacodynamic effects on PrP concentration in the CNS

por Mortberg, Meredith A., Zhao, Hien T., Reidenbach, Andrew G., Gentile, Juliana E., Kuhn, Eric, O’Moore, Jill, Dooley, Patrick M., Connors, Theresa R., Mazur, Curt, Allen, Shona W., Trombetta, Bianca A., McManus, Alison, Moore, Matthew R., Liu, Jiewu, Cabin, Deborah E., Kordasiewicz, Holly B., Mathews, Joel, Arnold, Steven E., Vallabh, Sonia M., Minikel, Eric Vallabh
Publicado 2022

Antisense oligonucleotides extend survival of prion-infected mice

por Raymond, Gregory J., Zhao, Hien Tran, Race, Brent, Raymond, Lynne D., Williams, Katie, Swayze, Eric E., Graffam, Samantha, Le, Jason, Caron, Tyler, Stathopoulos, Jacquelyn, O’Keefe, Rhonda, Lubke, Lori L., Reidenbach, Andrew G., Kraus, Allison, Schreiber, Stuart L., Mazur, Curt, Cabin, Deborah E., Carroll, Jeffrey B., Minikel, Eric Vallabh, Kordasiewicz, Holly, Caughey, Byron, Vallabh, Sonia M.
Publicado 2019

Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints

por Minikel, Eric Vallabh, Zhao, Hien T, Le, Jason, O’Moore, Jill, Pitstick, Rose, Graffam, Samantha, Carlson, George A, Kavanaugh, Michael P, Kriz, Jasna, Kim, Jae Beom, Ma, Jiyan, Wille, Holger, Aiken, Judd, McKenzie, Deborah, Doh-ura, Katsumi, Beck, Matthew, O’Keefe, Rhonda, Stathopoulos, Jacquelyn, Caron, Tyler, Schreiber, Stuart L, Carroll, Jeffrey B, Kordasiewicz, Holly B, Cabin, Deborah E, Vallabh, Sonia M
Publicado 2020

The effect of LRRK2 loss-of-function variants in humans

por Whiffin, Nicola, Armean, Irina M., Kleinman, Aaron, Marshall, Jamie L., Minikel, Eric V., Goodrich, Julia K., Quaife, Nicholas M., Cole, Joanne B., Wang, Qingbo, Karczewski, Konrad J., Cummings, Beryl B., Francioli, Laurent, Laricchia, Kristen, Guan, Anna, Alipanahi, Babak, Morrison, Peter, Baptista, Marco A. S., Merchant, Kalpana M., Ware, James S., Havulinna, Aki S., Iliadou, Bozenna, Lee, Jung-Jin, Nadkarni, Girish N., Whiteman, Cole, Daly, Mark, Esko, Tõnu, Hultman, Christina, Loos, Ruth J. F., Milani, Lili, Palotie, Aarno, Pato, Carlos, Pato, Michele, Saleheen, Danish, Sullivan, Patrick F., Alföldi, Jessica, Cannon, Paul, MacArthur, Daniel G.
Publicado 2020

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

por Rivas, Manuel A., Avila, Brandon E., Koskela, Jukka, Huang, Hailiang, Stevens, Christine, Pirinen, Matti, Haritunians, Talin, Neale, Benjamin M., Kurki, Mitja, Ganna, Andrea, Graham, Daniel, Glaser, Benjamin, Peter, Inga, Atzmon, Gil, Barzilai, Nir, Levine, Adam P., Schiff, Elena, Pontikos, Nikolas, Weisburd, Ben, Lek, Monkol, Karczewski, Konrad J., Bloom, Jonathan, Minikel, Eric V., Petersen, Britt-Sabina, Beaugerie, Laurent, Seksik, Philippe, Cosnes, Jacques, Schreiber, Stefan, Bokemeyer, Bernd, Bethge, Johannes, Heap, Graham, Ahmad, Tariq, Plagnol, Vincent, Segal, Anthony W., Targan, Stephan, Turner, Dan, Saavalainen, Paivi, Farkkila, Martti, Kontula, Kimmo, Palotie, Aarno, Brant, Steven R., Duerr, Richard H., Silverberg, Mark S., Rioux, John D., Weersma, Rinse K., Franke, Andre, Jostins, Luke, Anderson, Carl A., Barrett, Jeffrey C., MacArthur, Daniel G., Jalas, Chaim, Sokol, Harry, Xavier, Ramnik J., Pulver, Ann, Cho, Judy H., McGovern, Dermot P. B., Daly, Mark J.
Publicado 2018

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

por Rivas, Manuel A., Avila, Brandon E., Koskela, Jukka, Huang, Hailiang, Stevens, Christine, Pirinen, Matti, Haritunians, Talin, Neale, Benjamin M., Kurki, Mitja, Ganna, Andrea, Graham, Daniel, Glaser, Benjamin, Peter, Inga, Atzmon, Gil, Barzilai, Nir, Levine, Adam P., Schiff, Elena, Pontikos, Nikolas, Weisburd, Ben, Lek, Monkol, Karczewski, Konrad J., Bloom, Jonathan, Minikel, Eric V., Petersen, Britt-Sabina, Beaugerie, Laurent, Seksik, Philippe, Cosnes, Jacques, Schreiber, Stefan, Bokemeyer, Bernd, Bethge, Johannes, Heap, Graham, Ahmad, Tariq, Plagnol, Vincent, Segal, Anthony W., Targan, Stephan, Turner, Dan, Saavalainen, Paivi, Farkkila, Martti, Kontula, Kimmo, Palotie, Aarno, Brant, Steven R., Duerr, Richard H., Silverberg, Mark S., Rioux, John D., Weersma, Rinse K., Franke, Andre, Jostins, Luke, Anderson, Carl A., Barrett, Jeffrey C., MacArthur, Daniel G., Jalas, Chaim, Sokol, Harry, Xavier, Ramnik J., Pulver, Ann, Cho, Judy H., McGovern, Dermot P. B., Daly, Mark J.
Publicado 2019