Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalop...

Por G. Day-Williams, Aaron, Sun, Chao, Jelcic, Ilijas, McLaughlin, Helen, Harris, Tim, Martin, Roland, Carulli, John P.
Publicado no J Clin Immunol (2014)

Sequencing and Analysis of JC Virus DNA From Natalizumab-Treated PML Patients

Por Reid, Carl E., Li, Huo, Sur, Gargi, Carmillo, Paul, Bushnell, Steven, Tizard, Rich, McAuliffe, Michele, Tonkin, Christopher, Simon, Kenneth, Goelz, Susan, Cinque, Paola, Gorelik, Leonid, Carulli, John P.
Publicado em 2011

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage

Por Jangi, Mohini, Fleet, Christina, Cullen, Patrick, Gupta, Shipra V., Mekhoubad, Shila, Chiao, Eric, Allaire, Norm, Bennett, C. Frank, Rigo, Frank, Krainer, Adrian R., Hurt, Jessica A., Carulli, John P., Staropoli, John F.
Publicado no Proc Natl Acad Sci U S A (2017)

Several regions in the major histocompatibility complex confer risk for anti-CCP- antibody positive rheumatoid arthritis, independent of the DRB1 locus

Por Lee, Hye-Soon, Lee, Annette T., Criswell, Lindsey A., Seldin, Michael F., Amos, Christopher I, Carulli, John P, Navarrete, Cristina, Remmers, Elaine F, Kastner, Daniel L., Plenge, Robert M, Li, Wentian, Gregersen, Peter K.
Publicado em 2008

Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in Rheumatoid Arthritis

Por Liu, Chunyu, Batliwalla, Franak, Li, Wentian, Lee, Annette, Roubenoff, Ronenn, Beckman, Evan, Khalili, Houman, Damle, Aarti, Kern, Marlena, Plenge, Robert M., Coenen, Marieke, Behrens, Timothy W., Furie, Richard, Carulli, John P., Gregersen, Peter K.
Publicado em 2008

Linkage Analyses of Chromosome 18 Markers Do Not Identify a Major Susceptibility Locus for Bipolar Affective Disorder in the Old Order Amish

Por Pauls, David L., Ott, Jurg, Paul, Steven M., Allen, Cleona R., Fann, Cathy S. J., Carulli, John P., Falls, Kathleen M., Bouthillier, Christine A., Gravius, Thomas C., Keith, Tim P., Egeland, Janice A., Ginns, Edward I.
Publicado em 1995

Chromosome 18 Markers: Linked or Not Linked to Bipolar Affective Disorders in the Old Order Amish? A Reply to Gershon et al

Por Pauls, David L., Ott, Jurg, Paul, Steven M., Allen, Cleona R., Fann, Cathy S. J., Carulli, John P., Falls, Kathleen M., Bouthillier, Christine A., Gravius, Thomas C., Keith, Tim P., Egeland, Janice A., Ginns, Edward I.
Publicado em 1996

Progressive Multifocal Leukoencephalopathy (PML) Development Is Associated With Mutations in JC Virus Capsid Protein VP1 That Change Its Receptor Specificity

Por Gorelik, Leonid, Reid, Carl, Testa, Manuela, Brickelmaier, Margot, Bossolasco, Simona, Pazzi, Annamaria, Bestetti, Arabella, Carmillo, Paul, Wilson, Ewa, McAuliffe, Michele, Tonkin, Christopher, Carulli, John P., Lugovskoy, Alexey, Lazzarin, Adriano, Sunyaev, Shamil, Simon, Kenneth, Cinque, Paola
Publicado em 2011

Development of a Multi-Biomarker Disease Activity Test for Rheumatoid Arthritis

Por Centola, Michael, Cavet, Guy, Shen, Yijing, Ramanujan, Saroja, Knowlton, Nicholas, Swan, Kathryn A., Turner, Mary, Sutton, Chris, Smith, Dustin R., Haney, Douglas J., Chernoff, David, Hesterberg, Lyndal K., Carulli, John P., Taylor, Peter C., Shadick, Nancy A., Weinblatt, Michael E., Curtis, Jeffrey R.
Publicado em 2013

JC Polyomavirus Abundance and Distribution in Progressive Multifocal Leukoencephalopathy (PML) Brain Tissue Implicates Myelin Sheath in Intracerebral Dissemination of Infection

Por Wharton, Keith A., Quigley, Catherine, Themeles, Marian, Dunstan, Robert W., Doyle, Kathryn, Cahir-McFarland, Ellen, Wei, Jing, Buko, Alex, Reid, Carl E., Sun, Chao, Carmillo, Paul, Sur, Gargi, Carulli, John P., Mansfield, Keith G., Westmoreland, Susan V., Staugaitis, Susan M., Fox, Robert J., Meier, Werner, Goelz, Susan E.
Publicado no PLoS One (2016)

STAT4 and the Risk of Rheumatoid Arthritis and Systemic Lupus Erythematosus

Por Remmers, Elaine F., Plenge, Robert M., Lee, Annette T., Graham, Robert R., Hom, Geoffrey, Behrens, Timothy W., de Bakker, Paul I.W., Le, Julie M., Lee, Hye-Soon, Batliwalla, Franak, Li, Wentian, Masters, Seth L., Booty, Matthew G., Carulli, John P., Padyukov, Leonid, Alfredsson, Lars, Klareskog, Lars, Chen, Wei V., Amos, Christopher I., Criswell, Lindsey A., Seldin, Michael F., Kastner, Daniel L., Gregersen, Peter K.
Publicado em 2007

TRAF1-C5 as a Risk Locus for Rheumatoid Arthritis — A Genomewide Study

Por Plenge, Robert M., Seielstad, Mark, Padyukov, Leonid, Lee, Annette T., Remmers, Elaine F., Ding, Bo, Liew, Anthony, Khalili, Houman, Chandrasekaran, Alamelu, Davies, Leela R.L., Li, Wentian, Tan, Adrian K.S., Bonnard, Carine, Ong, Rick T.H., Thalamuthu, Anbupalam, Pettersson, Sven, Liu, Chunyu, Tian, Chao, Chen, Wei V., Carulli, John P., Beckman, Evan M., Altshuler, David, Alfredsson, Lars, Criswell, Lindsey A., Amos, Christopher I., Seldin, Michael F., Kastner, Daniel L., Klareskog, Lars, Gregersen, Peter K.
Publicado em 2007

A genome-wide search for chromosomal loci linked to mental health wellness in relatives at high risk for bipolar affective disorder among the Old Order Amish

Por Ginns, Edward I., St. Jean, Pamela, Philibert, Robert A., Galdzicka, Marzena, Damschroder-Williams, Patricia, Thiel, Bonnie, Long, Robert T., Ingraham, Loring J., Dalwaldi, Harnisha, Murray, Melissa A., Ehlert, Melissa, Paul, Sharon, Remortel, Brian G., Patel, Ashima P., Anderson, Maria C. H., Shaio, Cary, Lau, Elaine, Dymarskaia, Inna, Martin, Brian M., Stubblefield, Barbara, Falls, Kathleen M., Carulli, John P., Keith, Tim P., Fann, Cathy S. J., Lacy, Lucy G., Allen, Cleona R., Hostetter, Abram M., Elston, Robert C., Schork, Nicholas J., Egeland, Janice A., Paul, Steven M.
Publicado em 1998

A Mutation in the LDL Receptor–Related Protein 5 Gene Results in the Autosomal Dominant High–Bone-Mass Trait

Por Little, Randall D., Carulli, John P., Del Mastro, Richard G., Dupuis, Josée, Osborne, Mark, Folz, Colleen, Manning, Susan P., Swain, Pamela M., Zhao, Shan-Chuan, Eustace, Brenda, Lappe, Michelle M., Spitzer, Lia, Zweier, Susan, Braunschweiger, Karen, Benchekroun, Youssef, Hu, Xintong, Adair, Ronald, Chee, Linda, FitzGerald, Michael G., Tulig, Craig, Caruso, Anthony, Tzellas, Nia, Bawa, Alicia, Franklin, Barbara, McGuire, Shannon, Nogues, Xavier, Gong, Gordon, Allen, Kristina M., Anisowicz, Anthony, Morales, Arturo J., Lomedico, Peter T., Recker, Susan M., Van Eerdewegh, Paul, Recker, Robert R., Johnson, Mark L.
Publicado em 2002

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Por Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J.M.B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., Goldstein, David B.
Publicado no Science (2015)