Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development

Por 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.
Publicado em 2012

A point mutation in the murine Hem1 gene reveals an essential role for Hematopoietic Protein 1 in lymphopoiesis and innate immunity

Por 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.
Publicado em 2008

Osteocyte control of bone formation via sclerostin, a novel BMP antagonist

Por 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., Latham, John A.
Publicado em 2003

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

Por 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.
Publicado em 2004

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

Por 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
Publicado no Front Genet (2015)

Origin of the PSEN1 E280A mutation causing early–onset Alzheimer’s disease

Por 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
Publicado em 2013

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

Por 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.
Publicado em 2001

Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals

Por 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
Publicado no Hum Genome Var (2016)

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Por 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, 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.
Publicado no PLoS One (2015)

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Por 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, 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.
Publicado no PLoS One (2015)

Rare variants in neuronal excitability genes influence risk for bipolar disorder

Por Ament, 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., Kelsoe, John R., Greenwood, Tiffany A., Nievergelt, Caroline M., Shilling, Paul D., Shekhtman, Tatyana, Roach, Jared C., Ament, Seth A., Hood, Leroy, Nurnberger, John I., Edenberg, Howard J., Foroud, Tatiana, Koller, Daniel L., Gershon, Elliot S., Badner, Judith A., Liu, Chunyu, Scheftner, William A., Lawson, William B., Coryell, William, Potash, James B., Rice, John, Byerley, William, McMahon, Francis J., Hou, Liping, Berrettini, Wade H., Zandi, Peter P., McInnis, Melvin G., Craig, David W., Szelinger, Szabolcs, Schulze, Thomas G., Schork, Nicholas J., Quarless, Danjuma
Publicado no Proc Natl Acad Sci U S A (2015)