Disruption of Fnip1 Reveals a Metabolic Checkpoint Controlling B Lymphocyte Development von Park, Heon, Staehling, Karen, Tsang, Mark, Appleby, Mark W., Brunkow, Mary E., Margineantu, Daciana, Hockenbery, David M., Habib, Tania, Liggitt, H. Denny, Carlson, George, Iritani, Brian M.

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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

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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 von Ochs, Hans D, Bennett, Craig L, Christie, Jacinda, Ramsdell, Fred, Brunkow, Mary E, Ferguson, Polly J, Whitesell, Luke, Kelly, Thaddeus E, Saulsbury, Frank T, Chance, Phillip F

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Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse von 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

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Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein von 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.

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Sclerostin: how human mutations have helped reveal a new target for the treatment of osteoporosis von Robinson, Martyn K., Caminis, John, Brunkow, Mary E.

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A point mutation in the murine Hem1 gene reveals an essential role for Hematopoietic protein 1 in lymphopoiesis and innate immunity von Park, Heon, Staehling-Hampton, Karen, Appleby, Mark W, Brunkow, Mary E, Habib, Tania, Zhang, Yi, Ramsdell, Fred, Liggitt, H Denny, Freie, Brian, Tsang, Mark, Carlson, George, Friend, Sherree, Frevert, Charles, Iritani, Brian M

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Rare variants in neuronal excitability genes influence risk for bipolar disorder von Amenta, Seth A., Szelinger, Szabolcs, Glusman, Gustavo, Ashworth, Justin, Hou, Liping, Akula, Nirmala, Shekhtman, Tatyana, Badner, Judith A., Brunkow, Mary E., Mauldin, Denise E., Stittrich, Anna-Barbara, Rouleau, Katherine, Detera-Wadleigh, Sevilla D., Nurnberger, John I., Edenberg, Howard J., Gershon, Elliot S., Schork, Nicholas, Price, Nathan D., Gelinas, Richard, Hood, Leroy, Craig, David, McMahon, Francis J., Kelsoe, John R., Roach, Jared C.

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Multi-Omic characterization of the effects of Ocrelizumab in patients with relapsing-remitting multiple sclerosis von Kornilov, Sergey A., Price, Nathan D., Gelinas, Richard, Acosta, Juan, Brunkow, Mary E., Gervasi-Follmar, Tiffany, Winger, Ryan C., Aldershoff, Dmitri, Lausted, Christopher, Troisch, Pamela, Smith, Brett, Heath, James R., Repovic, Pavle, Cohan, Stanley, Magis, Andrew T.

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Identification of copy number variants in whole-genome data using Reference Coverage Profiles von Glusman, Gustavo, Severson, Alissa, Dhankani, Varsha, Robinson, Max, Farrah, Terry, Mauldin, Denise E, Stittrich, Anna B, Ament, Seth A, Roach, Jared C, Brunkow, Mary E, Bodian, Dale L, Vockley, Joseph G, Shmulevich, Ilya, Niederhuber, John E, Hood, Leroy

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Osteocyte control of bone formation via sclerostin, a novel BMP antagonist von Latham, John A, Winkler, David G, Sutherland, May Kung, Geoghegan, James C, Yu, Changpu, Hayes, Trenton, Skonier, John E, Shpektor, Diana, Jonas, Mechtild, Kovacevich, Brian R, Staehling-Hampton, Karen, Appleby, Mark, Brunkow, Mary E

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Measurement of Organ-Specific and Acute-Phase Blood Protein Levels in Early Lyme Disease von Zhou, Yong, Qin, Shizhen, Sun, Mingjuan, Tang, Li, Yan, Xiaowei, Kim, Taek-Kyun, Caballero, Juan, Glusman, Gustavo, Brunkow, Mary E, Soloski, Mark J, Rebman, Alison W, Scavarda, Carol, Cooper, Denise, Omenn, Gilbert S, Moritz, Robert L, Wormser, Gary P, Price, Nathan D, Aucott, John N, Hood, Leroy

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Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease von Lalli, Matthew A, Cox, Hannah C, Arcila, Mary L, Cadavid, Liliana, Moreno, Sonia, Garcia, Gloria, Madrigal, Lucia, Reiman, Eric M, Arcos-Burgos, Mauricio, Bedoya, Gabriel, Brunkow, Mary E, Glusman, Gustavo, Roach, Jared C, Hood, Leroy, Kosik, Kenneth S, Lopera, Francisco

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The Amount of Scurfin Protein Determines Peripheral T Cell Number and Responsiveness von Khattri, Roli, Kasprowicz, Deborah, Cox, Tom, Mortrud, Marty, Appleby, Mark W, Brunkow, Mary E, Ziegler, Steven F, Ramsdell, Fred

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Polymorphisms in the Sclerosteosis/van Buchem Disease Gene ( SOST) Region Are Associated with Bone-Mineral Density in Elderly Whites von 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.

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X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy von Perroni, Lucia, Wildin, Robert S, Appleby, Mark, Levy-Lahad, Ephrat, Buist, Neil, Byrne, Geoffrey, Goulet, Olivier, Dagna Bricarelli, Franca, Ramsdell, Fred, Peake, Jane, Proll, Sean, McEuen, Mark, Brunkow, Mary E, Casanova, Jean-Laurent, Faravelli, Francesca, Mazzella, Massimo

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Cellular and Molecular Characterization of the scurfy Mouse Mutant von Clark, Lisa B, Appleby, Mark W, Brunkow, Mary E, Wilkinson, J. Erby, Ziegler, Steven F, Ramsdell, Fred

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Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals von Stittrich, Anna B, Ashworth, Justin, Shi, Mude, Robinson, Max, Mauldin, Denise, Brunkow, Mary E, Biswas, Shameek, Kim, Jin-Man, Kwon, Ki-Sun, Jung, Jae U, Galas, David, Serikawa, Kyle, Duerr, Richard H, Guthery, Stephen L, Peschon, Jacques, Hood, Leroy, Roach, Jared C, Glusman, Gustavo

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A Novel Mutation in CD83 Results in the Development of a Unique Population of CD4+ T Cells von 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

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Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry von Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J, Newcomb, Tara M, Reyna, Sandra P, Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L, Brown, Candida, Brunkow, Mary E, Chugani, Harry T, Cheyette, Sarah R, Collins, Abigail, DeBrosse, Suzanne D, Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B, King, Mary D, LaSalle, Bernie, Leventer, Richard J, Lewelt, Aga J, Massart, Mylynda B, Mérida, 2nd, Mario R, Ptáček, Louis J, Roach, Jared C, Rust, Robert S, Renault, Francis, Sanger, Terry D, Sotero de Menezes, Marcio A, Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J

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