The contribution of de novo coding mutations to autism spectrum disorder
Iossifov, Ivan, O'Roak, Brian J, Sanders, Stephan J, Ronemus, Michael, Krumm, Niklas, Levy, Dan, Stessman, Holly A, Witherspoon, Kali T, Vives, Laura, Patterson, Karynne E, Smith, Joshua D, Paeper, Bryan, Nickerson, Deborah A, Dea, Jeanselle, Dong, Shan, Gonzalez, Luis E, Mandell, Jeffrey D, Mane, Shrikant M, Murtha, Michael T, Sullivan, Catherine A, Walker, Michael F, Waqar, Zainulabedin, Wei, Liping, Willsey, A Jeremy, Yamrom, Boris, Lee, Yoon-ha, Grabowska, Ewa, Dalkic, Ertugrul, Wang, Zihua, Marks, Steven, Andrews, Peter, Leotta, Anthony, Kendall, Jude, Hakker, Inessa, Rosenbaum, Julie, Ma, Beicong, Rodgers, Linda, Troge, Jennifer, Narzisi, Giuseppe, Yoon, Seungtai, Schatz, Michael C, Ye, Kenny, McCombie, W Richard, Shendure, Jay, Eichler, Evan E, State, Matthew W, Wigler, Michael
Published in Nature (London) (13.11.2014)
Published in Nature (London) (13.11.2014)
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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein
Brunkow, Mary E., Gardner, Jessica C., Van Ness, Jeff, Paeper, Bryan W., Kovacevich, Brian R., Proll, Sean, Skonier, John E., Zhao, L., Sabo, P.J., Fu, Ying-Hui, Alisch, Reid S., Gillett, Lucille, Colbert, Trenton, Tacconi, Paolo, Galas, David, Hamersma, Herman, Beighton, Peter, Mulligan, John T.
Published in American journal of human genetics (01.03.2001)
Published in American journal of human genetics (01.03.2001)
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Genomic analysis reveals a potential role for cell cycle perturbation in HCV-mediated apoptosis of cultured hepatocytes
Walters, Kathie-Anne, Syder, Andrew J, Lederer, Sharon L, Diamond, Deborah L, Paeper, Bryan, Rice, Charles M, Katze, Michael G
Published in PLoS pathogens (01.01.2009)
Published in PLoS pathogens (01.01.2009)
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Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
Brunkow, Mary E, Jeffery, Eric W, Hjerrild, Kathryn A, Paeper, Bryan, Clark, Lisa B, Yasayko, Sue-Ann, Wilkinson, J. Erby, Galas, David, Ziegler, Steven F, Ramsdell, Fred
Published in Nature genetics (01.01.2001)
Published in Nature genetics (01.01.2001)
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Proteomic profiling of human liver biopsies: Hepatitis C virus–induced fibrosis and mitochondrial dysfunction
Diamond, Deborah L., Jacobs, Jon M., Paeper, Bryan, Proll, Sean C., Gritsenko, Marina A., Carithers, Robert L., Larson, Anne M., Yeh, Matthew M., Camp, David G., Smith, Richard D., Katze, Michael G.
Published in Hepatology (Baltimore, Md.) (01.09.2007)
Published in Hepatology (Baltimore, Md.) (01.09.2007)
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Impaired Cholesterol Biosynthesis in a Neuronal Cell Line Persistently Infected with Measles Virus
ROBINZON, Shahar, DAFA-BERGER, Avis, DYER, Mathew D, PAEPER, Bryan, PROLL, Sean C, TEAL, Thomas H, ROM, Slava, FISHMAN, Daniel, RAGER-ZISMAN, Bracha, KATZE, Michael G
Published in Journal of Virology (01.06.2009)
Published in Journal of Virology (01.06.2009)
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Polymorphisms in the Sclerosteosis/van Buchem Disease Gene ( SOST) Region Are Associated with Bone-Mineral Density in Elderly Whites
Uitterlinden, Andre G., Arp, Pascal P., Paeper, Bryan W., Charmley, Patrick, Proll, Sean, Rivadeneira, Fernando, Fang, Yue, van Meurs, Joyce B.J., Britschgi, Theresa B., Latham, John A., Schatzman, Randall C., Pols, Huibert A.P., Brunkow, Mary E.
Published in American journal of human genetics (01.12.2004)
Published in American journal of human genetics (01.12.2004)
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MAID : an effect size based model for microarray data integration across laboratories and platforms
Borozan, Ivan, Chen, Limin, Paeper, Bryan, Heathcote, Jenny E, Edwards, Aled M, Katze, Michael, Zhang, Zhaolei, McGilvray, Ian D
Published in BMC bioinformatics (10.07.2008)
Published in BMC bioinformatics (10.07.2008)
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Distinct cellular responses differentiating alcohol- and hepatitis C virus-induced liver cirrhosis
Lederer, Sharon L, Walters, Kathie-Anne, Proll, Sean, Paeper, Bryan, Robinzon, Shahar, Boix, Loreto, Fausto, Nelson, Bruix, Jordi, Katze, Michael G
Published in Virology journal (22.11.2006)
Published in Virology journal (22.11.2006)
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High-density rhesus macaque oligonucleotide microarray design using early-stage rhesus genome sequence information and human genome annotations
Wallace, James C, Korth, Marcus J, Paeper, Bryan, Proll, Sean C, Thomas, Matthew J, Magness, Charles L, Iadonato, Shawn P, Nelson, Charles, Katze, Michael G
Published in BMC genomics (23.01.2007)
Published in BMC genomics (23.01.2007)
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Functional gene analysis of individual response to challenge of SIVmac239 in M. mulatta PBMC culture
Thomas, Matthew J., Agy, Michael B., Proll, Sean C., Paeper, Bryan W., Li, Yu, Jensen, Kara L., Korth, Marcus J., Katze, Michael G.
Published in Virology (New York, N.Y.) (25.04.2006)
Published in Virology (New York, N.Y.) (25.04.2006)
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Systems biology and the host response to viral infection
Tan, Seng-Lai, Ganji, Gopinath, Paeper, Bryan, Proll, Sean, Katze, Michael G
Published in Nature biotechnology (01.12.2007)
Published in Nature biotechnology (01.12.2007)
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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
Chong, Jessica X., Burrage, Lindsay C., Beck, Anita E., Marvin, Colby T., McMillin, Margaret J., Shively, Kathryn M., Harrell, Tanya M., Buckingham, Kati J., Bacino, Carlos A., Jain, Mahim, Alanay, Yasemin, Berry, Susan A., Carey, John C., Gibbs, Richard A., Lee, Brendan H., Krakow, Deborah, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
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A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population
Staehling-Hampton, Karen, Proll, Sean, Paeper, Bryan W, Zhao, Lei, Charmley, Patrick, Brown, Analisa, Gardner, Jessica C, Galas, David, Schatzman, Randall C, Beighton, Peter, Papapoulos, Socrates, Hamersma, Herman, Brunkow, Mary E
Published in American journal of medical genetics (15.06.2002)
Published in American journal of medical genetics (15.06.2002)
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Challenges and solutions for gene identification in the presence of familial locus heterogeneity
Rehman, Atteeq U, Santos-Cortez, Regie Lyn P, Drummond, Meghan C, Shahzad, Mohsin, Lee, Kwanghyuk, Morell, Robert J, Ansar, Muhammad, Jan, Abid, Wang, Xin, Aziz, Abdul, Riazuddin, Saima, Smith, Joshua D, Wang, Gao T, Ahmed, Zubair M, Gul, Khitab, Shearer, A Eliot, Smith, Richard J H, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Hinnant, John, Khan, Shaheen N, Fisher, Rachel A, Ahmad, Wasim, Friderici, Karen H, Riazuddin, Sheikh, Friedman, Thomas B, Wilch, Ellen S, Leal, Suzanne M
Published in European journal of human genetics : EJHG (01.09.2015)
Published in European journal of human genetics : EJHG (01.09.2015)
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Sequencing and expression analysis of the serine protease gene cluster located in chromosome 19q13 region
Gan, Lu, Lee, Inyou, Smith, Ryan, Argonza-Barrett, Rhoda, Lei, He, McCuaig, Jill, Moss, Patrick, Paeper, Bryan, Wang, Kai
Published in Gene (17.10.2000)
Published in Gene (17.10.2000)
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Genomic Analysis Reveals a Potential Role for Cell Cycle Perturbation in HCV-Mediated Apoptosis of Cultured Hepatocytes: e1000269
Walters, Kathie-Anne, Syder, Andrew J, Lederer, Sharon L, Diamond, Deborah L, Paeper, Bryan, Rice, Charles M, Katze, Michael G
Published in PLoS pathogens (01.01.2009)
Published in PLoS pathogens (01.01.2009)
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A Novel Mutation in CD83 Results in the Development of a Unique Population of CD4+ T Cells
Garcia-Martinez, Leon F, Appleby, Mark W, Staehling-Hampton, Karen, Andrews, Dawn M, Chen, Yuching, McEuen, Mark, Tang, Phuong, Rhinehart, Rebecca L, Proll, Sean, Paeper, Bryan, Brunkow, Mary E, Grandea, Andres G., III, Howard, Edward D, Walker, Don E, Charmley, Patrick, Jonas, Mechthild, Shaw, Stevan, Latham, John A, Ramsdell, Fred
Published in The Journal of immunology (1950) (01.09.2004)
Published in The Journal of immunology (1950) (01.09.2004)
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Temporal expression of the human alcohol dehydrogenase gene family during liver development correlates with differential promoter activation by hepatocyte nuclear factor 1, CCAAT/enhancer-binding protein alpha, liver activator protein, and D-element-binding protein
VAN OOIJ, C, SNYDER, R. C, PAEPER, B. W, DUESTER, G
Published in Molecular and Cellular Biology (01.07.1992)
Published in Molecular and Cellular Biology (01.07.1992)
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