Mutations in NOTCH1 Cause Adams-Oliver Syndrome
Stittrich, Anna-Barbara, Lehman, Anna, Bodian, Dale L., Ashworth, Justin, Zong, Zheyuan, Li, Hong, Lam, Patricia, Khromykh, Alina, Iyer, Ramaswamy K., Vockley, Joseph G., Baveja, Rajiv, Silva, Ermelinda Santos, Dixon, Joanne, Leon, Eyby L., Solomon, Benjamin D., Glusman, Gustavo, Niederhuber, John E., Roach, Jared C., Patel, Millan S.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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Parent-of-origin-specific signatures of de novo mutations
Goldmann, Jakob M, Wong, Wendy S W, Pinelli, Michele, Farrah, Terry, Bodian, Dale, Stittrich, Anna B, Glusman, Gustavo, Vissers, Lisenka E L M, Hoischen, Alexander, Roach, Jared C, Vockley, Joseph G, Veltman, Joris A, Solomon, Benjamin D, Gilissen, Christian, Niederhuber, John E
Published in Nature genetics (01.08.2016)
Published in Nature genetics (01.08.2016)
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Journal Article
Kaviar: an accessible system for testing SNV novelty
Glusman, Gustavo, Caballero, Juan, Mauldin, Denise E., Hood, Leroy, Roach, Jared C.
Published in Bioinformatics (15.11.2011)
Published in Bioinformatics (15.11.2011)
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Journal Article
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Roach, Jared C, Glusman, Gustavo, Smit, Arian F.A, Huff, Chad D, Hubley, Robert, Shannon, Paul T, Rowen, Lee, Pant, Krishna P, Goodman, Nathan, Bamshad, Michael, Shendure, Jay, Drmanac, Radoje, Jorde, Lynn B, Hood, Leroy, Galas, David J
Published in Science (American Association for the Advancement of Science) (30.04.2010)
Published in Science (American Association for the Advancement of Science) (30.04.2010)
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Journal Article
High functional diversity in Mycobacterium tuberculosis driven by genetic drift and human demography
Hershberg, Ruth, Lipatov, Mikhail, Small, Peter M, Sheffer, Hadar, Niemann, Stefan, Homolka, Susanne, Roach, Jared C, Kremer, Kristin, Petrov, Dmitri A, Feldman, Marcus W, Gagneux, Sebastien
Published in PLoS biology (01.12.2008)
Published in PLoS biology (01.12.2008)
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RTX-KG2: a system for building a semantically standardized knowledge graph for translational biomedicine
Wood, E C, Glen, Amy K, Kvarfordt, Lindsey G, Womack, Finn, Acevedo, Liliana, Yoon, Timothy S, Ma, Chunyu, Flores, Veronica, Sinha, Meghamala, Chodpathumwan, Yodsawalai, Termehchy, Arash, Roach, Jared C, Mendoza, Luis, Hoffman, Andrew S, Deutsch, Eric W, Koslicki, David, Ramsey, Stephen A
Published in BMC bioinformatics (29.09.2022)
Published in BMC bioinformatics (29.09.2022)
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Journal Article
The Evolution of Vertebrate Toll-Like Receptors
Roach, Jared C., Glusman, Gustavo, Rowen, Lee, Kaur, Amardeep, Purcell, Maureen K., Smith, Kelly D., Hood, Leroy E., Aderem, Alan, Unanue, Emil R.
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2005)
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Journal Article
Whole-genome sequencing of the world's oldest people
Gierman, Hinco J, Fortney, Kristen, Roach, Jared C, Coles, Natalie S, Li, Hong, Glusman, Gustavo, Markov, Glenn J, Smith, Justin D, Hood, Leroy, Coles, L Stephen, Kim, Stuart K
Published in PloS one (12.11.2014)
Published in PloS one (12.11.2014)
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Evolutionary history of Tibetans inferred from whole-genome sequencing
Hu, Hao, Petousi, Nayia, Glusman, Gustavo, Yu, Yao, Bohlender, Ryan, Tashi, Tsewang, Downie, Jonathan M, Roach, Jared C, Cole, Amy M, Lorenzo, Felipe R, Rogers, Alan R, Brunkow, Mary E, Cavalleri, Gianpiero, Hood, Leroy, Alpatty, Sama M, Prchal, Josef T, Jorde, Lynn B, Robbins, Peter A, Simonson, Tatum S, Huff, Chad D
Published in PLoS genetics (27.04.2017)
Published in PLoS genetics (27.04.2017)
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Journal Article
Population-specific genetic modification of Huntington's disease in Venezuela
Chao, Michael J, Kim, Kyung-Hee, Shin, Jun Wan, Lucente, Diane, Wheeler, Vanessa C, Li, Hong, Roach, Jared C, Hood, Leroy, Wexler, Nancy S, Jardim, Laura B, Holmans, Peter, Jones, Lesley, Orth, Michael, Kwak, Seung, MacDonald, Marcy E, Gusella, James F, Lee, Jong-Min
Published in PLoS genetics (11.05.2018)
Published in PLoS genetics (11.05.2018)
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Journal Article
Relationship estimation from whole-genome sequence data
Li, Hong, Glusman, Gustavo, Hu, Hao, Shankaracharya, Caballero, Juan, Hubley, Robert, Witherspoon, David, Guthery, Stephen L, Mauldin, Denise E, Jorde, Lynn B, Hood, Leroy, Roach, Jared C, Huff, Chad D
Published in PLoS genetics (01.01.2014)
Published in PLoS genetics (01.01.2014)
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Journal Article
TFCat: the curated catalog of mouse and human transcription factors
Fulton, Debra L, Sundararajan, Saravanan, Badis, Gwenael, Hughes, Timothy R, Wasserman, Wyeth W, Roach, Jared C, Sladek, Rob
Published in Genome Biology (01.01.2009)
Published in Genome Biology (01.01.2009)
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Journal Article
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
Hu, Hao, Roach, Jared C, Coon, Hilary, Guthery, Stephen L, Voelkerding, Karl V, Margraf, Rebecca L, Durtschi, Jacob D, Tavtigian, Sean V, Shankaracharya, Wu, Wilfred, Scheet, Paul, Wang, Shuoguo, Xing, Jinchuan, Glusman, Gustavo, Hubley, Robert, Li, Hong, Garg, Vidu, Moore, Barry, Hood, Leroy, Galas, David J, Srivastava, Deepak, Reese, Martin G, Jorde, Lynn B, Yandell, Mark, Huff, Chad D
Published in Nature biotechnology (01.07.2014)
Published in Nature biotechnology (01.07.2014)
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Journal Article
Uncovering a macrophage transcriptional program by integrating evidence from motif scanning and expression dynamics
Ramsey, Stephen A, Klemm, Sandy L, Zak, Daniel E, Kennedy, Kathleen A, Thorsson, Vesteinn, Li, Bin, Gilchrist, Mark, Gold, Elizabeth S, Johnson, Carrie D, Litvak, Vladimir, Navarro, Garnet, Roach, Jared C, Rosenberger, Carrie M, Rust, Alistair G, Yudkovsky, Natalya, Aderem, Alan, Shmulevich, Ilya
Published in PLoS computational biology (21.03.2008)
Published in PLoS computational biology (21.03.2008)
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Journal Article
Accurate and robust prediction of genetic relationship from whole-genome sequences
Li, Hong, Glusman, Gustavo, Huff, Chad, Caballero, Juan, Roach, Jared C
Published in PloS one (28.02.2014)
Published in PloS one (28.02.2014)
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Journal Article
Sequence-Level Analysis of the Major European Huntington Disease Haplotype
Lee, Jong-Min, Kim, Kyung-Hee, Shin, Aram, Chao, Michael J., Abu Elneel, Kawther, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Kaye, Julia A., Zahed, Hengameh, Kratter, Ian H., Daub, Aaron C., Finkbeiner, Steven, Li, Hong, Roach, Jared C., Goodman, Nathan, Hood, Leroy, Myers, Richard H., MacDonald, Marcy E., Gusella, James F.
Published in American journal of human genetics (03.09.2015)
Published in American journal of human genetics (03.09.2015)
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Journal Article
Paramecium bursaria Chlorella Virus 1 Proteome Reveals Novel Architectural and Regulatory Features of a Giant Virus
DUNIGAN, David D, CERNY, Ronald L, KRONSCHNABEL, Bernard J, JEANNIARD, Adrien, BLANC, Guillaume, UPTON, Chris, DUNCAN, Garry A, MCCLUNG, O. William, FANGRUI MA, VAN ETTENA, James L, BAUMAN, Andrew T, ROACH, Jared C, LANE, Leslie C, AGARKOVA, Irina V, WULSER, Kurt, YANAI-BALSER, Giane M, GURNON, James R, VITEK, Jason C
Published in Journal of Virology (01.08.2012)
Published in Journal of Virology (01.08.2012)
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Journal Article
Chromosomal Haplotypes by Genetic Phasing of Human Families
Roach, Jared C., Glusman, Gustavo, Hubley, Robert, Montsaroff, Stephen Z., Holloway, Alisha K., Mauldin, Denise E., Srivastava, Deepak, Garg, Vidu, Pollard, Katherine S., Galas, David J., Hood, Leroy, Smit, Arian F.A.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Journal Article
A population-specific reference panel empowers genetic studies of Anabaptist populations
Hou, Liping, Kember, Rachel L, Roach, Jared C, O'Connell, Jeffrey R, Craig, David W, Bucan, Maja, Scott, William K, Pericak-Vance, Margaret, Haines, Jonathan L, Crawford, Michael H, Shuldiner, Alan R, McMahon, Francis J
Published in Scientific reports (20.07.2017)
Published in Scientific reports (20.07.2017)
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