Mutations in NOTCH1 Cause Adams-Oliver Syndrome von 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.

Volltext

Parent-of-origin-specific signatures of de novo mutations von 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

Volltext

Kaviar: an accessible system for testing SNV novelty von Glusman, Gustavo, Caballero, Juan, Mauldin, Denise E., Hood, Leroy, Roach, Jared C.

Volltext

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing von 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

Volltext

High functional diversity in Mycobacterium tuberculosis driven by genetic drift and human demography von 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

Volltext

Editorial: Insights in human and medical genomics: 2022 von Roach, Jared C., Freidin, Maxim B.

Volltext

The Evolution of Vertebrate Toll-Like Receptors von Roach, Jared C., Glusman, Gustavo, Rowen, Lee, Kaur, Amardeep, Purcell, Maureen K., Smith, Kelly D., Hood, Leroy E., Aderem, Alan, Unanue, Emil R.

Volltext

RTX-KG2: a system for building a semantically standardized knowledge graph for translational biomedicine von 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

Volltext

Whole-genome sequencing of the world's oldest people von 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

Volltext

Evolutionary history of Tibetans inferred from whole-genome sequencing von 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

Volltext

Relationship estimation from whole-genome sequence data von 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

Volltext

Population-specific genetic modification of Huntington's disease in Venezuela von 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

Volltext

TFCat: the curated catalog of mouse and human transcription factors von Fulton, Debra L, Sundararajan, Saravanan, Badis, Gwenael, Hughes, Timothy R, Wasserman, Wyeth W, Roach, Jared C, Sladek, Rob

Volltext

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data von 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

Volltext

Uncovering a macrophage transcriptional program by integrating evidence from motif scanning and expression dynamics von 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

Volltext

Accurate and robust prediction of genetic relationship from whole-genome sequences von Li, Hong, Glusman, Gustavo, Huff, Chad, Caballero, Juan, Roach, Jared C

Volltext

Sequence-Level Analysis of the Major European Huntington Disease Haplotype von 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.

Volltext

Paramecium bursaria Chlorella Virus 1 Proteome Reveals Novel Architectural and Regulatory Features of a Giant Virus von 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

Volltext

Chromosomal Haplotypes by Genetic Phasing of Human Families von 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.

Volltext

A population-specific reference panel empowers genetic studies of Anabaptist populations von 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.

Volltext