A Tlr7 Translocation Accelerates Systemic Autoimmunity in Murine Lupus
Subramanian, Srividya, Tus, Katalin, Li, Quan-Zhen, Wang, Andrew, Tian, Xiang-Hong, Zhou, Jinchun, Liang, Chaoying, Bartov, Guy, McDaniel, Lisa D., Zhou, Xin J., Schultz, Roger A., Wakeland, Edward K.
Published in Proceedings of the National Academy of Sciences - PNAS (27.06.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (27.06.2006)
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Journal Article
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
Ballif, Blake C., Rosenfeld, Jill A., Traylor, Ryan, Theisen, Aaron, Bader, Patricia I., Ladda, Roger L., Sell, Susan L., Steinraths, Michelle, Surti, Urvashi, McGuire, Marianne, Williams, Shelley, Farrell, Sandra A., Filiano, James, Schnur, Rhonda E., Coffey, Lauren B., Tervo, Raymond C., Stroud, Tracy, Marble, Michael, Netzloff, Michael, Hanson, Kristen, Aylsworth, Arthur S., Bamforth, J. S., Babu, Deepti, Niyazov, Dmitriy M., Ravnan, J. Britt, Schultz, Roger A., Lamb, Allen N., Torchia, Beth S., Bejjani, Bassem A., Shaffer, Lisa G.
Published in Human genetics (2012)
Published in Human genetics (2012)
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Journal Article
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
Sahoo, Trilochan, Theisen, Aaron, Rosenfeld, Jill A, Lamb, Allen N, Ravnan, J Britt, Schultz, Roger A, Torchia, Beth S, Neill, Nicholas, Casci, Ian, Bejjani, Bassem A, Shaffer, Lisa G
Published in Genetics in medicine (01.10.2011)
Published in Genetics in medicine (01.10.2011)
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Journal Article
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
Paciorkowski, Alex R., Traylor, Ryan N., Rosenfeld, Jill A., Hoover, Jacqueline M., Harris, Catharine J., Winter, Susan, Lacassie, Yves, Bialer, Martin, Lamb, Allen N., Schultz, Roger A., Berry-Kravis, Elizabeth, Porter, Brenda E., Falk, Marni, Venkat, Anu, Vanzo, Rena J., Cohen, Julie S., Fatemi, Ali, Dobyns, William B., Shaffer, Lisa G., Ballif, Blake C., Marsh, Eric D.
Published in Neurogenetics (01.05.2013)
Published in Neurogenetics (01.05.2013)
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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
Lamb, Allen N., Rosenfeld, Jill A., Neill, Nicholas J., Talkowski, Michael E., Blumenthal, Ian, Girirajan, Santhosh, Keelean-Fuller, Debra, Fan, Zheng, Pouncey, Jill, Stevens, Cathy, Mackay-Loder, Loren, Terespolsky, Deborah, Bader, Patricia I., Rosenbaum, Kenneth, Vallee, Stephanie E., Moeschler, John B., Ladda, Roger, Sell, Susan, Martin, Judith, Ryan, Shawnia, Jones, Marilyn C., Moran, Rocio, Shealy, Amy, Madan-Khetarpal, Suneeta, McConnell, Juliann, Surti, Urvashi, Delahaye, Andrée, Heron-Longe, Bénédicte, Pipiras, Eva, Benzacken, Brigitte, Passemard, Sandrine, Verloes, Alain, Isidor, Bertrand, Le Caignec, Cedric, Glew, Gwen M., Opheim, Kent E., Descartes, Maria, Eichler, Evan E., Morton, Cynthia C., Gusella, James F., Schultz, Roger A., Ballif, Blake C., Shaffer, Lisa G.
Published in Human mutation (01.04.2012)
Published in Human mutation (01.04.2012)
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Journal Article
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity
Gordillo, Miriam, Vega, Hugo, Trainer, Alison H., Hou, Fajian, Sakai, Norio, Luque, Ricardo, Kayserili, Hülya, Basaran, Seher, Skovby, Flemming, Hennekam, Raoul C. M., Uzielli, Maria L. Giovannucci, Schnur, Rhonda E., Manouvrier, Sylvie, Chang, Susan, Blair, Edward, Hurst, Jane A., Forzano, Francesca, Meins, Moritz, Simola, Kalle O.J., Raas-Rothschild, Annick, Schultz, Roger A., McDaniel, Lisa D., Ozono, Keiichi, Inui, Koji, Zou, Hui, Jabs, Ethylin Wang
Published in Human molecular genetics (15.07.2008)
Published in Human molecular genetics (15.07.2008)
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Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH
Neill, Nicholas J, Ballif, Blake C, Lamb, Allen N, Parikh, Sumit, Ravnan, J Britt, Schultz, Roger A, Torchia, Beth S, Rosenfeld, Jill A, Shaffer, Lisa G
Published in Genome research (01.04.2011)
Published in Genome research (01.04.2011)
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Journal Article
Cancer predisposition caused by elevated mitotic recombination in Bloom mice
Bradley, Allan, Luo, Guangbin, Santoro, Irma M, McDaniel, Lisa D, Nishijima, Ichiko, Mills, Michael, Youssoufian, Hagop, Vogel, Hannes, Schultz, Roger A
Published in Nature genetics (01.12.2000)
Published in Nature genetics (01.12.2000)
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Journal Article
The role of endogenous and exogenous DNA damage and mutagenesis
Friedberg, Errol C, McDaniel, Lisa D, Schultz, Roger A
Published in Current opinion in genetics & development (01.02.2004)
Published in Current opinion in genetics & development (01.02.2004)
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Journal Article
Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes
Kolquist, Kathryn A, Schultz, Roger A, Furrow, Aubry, Brown, Theresa C, Han, Jin-Yeong, Campbell, Lynda J, Wall, Meaghan, Slovak, Marilyn L, Shaffer, Lisa G, Ballif, Blake C
Published in Cancer genetics (01.11.2011)
Published in Cancer genetics (01.11.2011)
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Journal Article
The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis ( CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein
Wheeler, Ruth B., Sharp, Julie D., Schultz, Roger A., Joslin, John M., Williams, Ruth E., Mole, Sara E.
Published in American journal of human genetics (01.02.2002)
Published in American journal of human genetics (01.02.2002)
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Journal Article
Estrogen Excess Associated with Novel Gain-of-Function Mutations Affecting the Aromatase Gene
Shozu, Makio, Sebastian, Siby, Takayama, Kazuto, Hsu, Wei-Tong, Schultz, Roger A, Neely, Kirk, Bryant, Michael, Bulun, Serdar E
Published in The New England journal of medicine (08.05.2003)
Published in The New England journal of medicine (08.05.2003)
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Journal Article
Experience Using a Rapid Assay for Aneuploidy and Microdeletion/Microduplication Detection in over 2,900 Prenatal Specimens
Rosenfeld, Jill A., Morton, S. Anne, Hummel, Cathryn, Sulpizio, Scott G., McDaniel, Lisa D., Schultz, Roger A., Torchia, Beth S., Ravnan, J. Britt, Ellison, Jay W., Fisher, Allan J.
Published in Fetal diagnosis and therapy (01.01.2014)
Published in Fetal diagnosis and therapy (01.01.2014)
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Journal Article
Cryptic chromosome abnormalities in a patient with mixed phenotype acute leukemia
Ning, Yi, Slovak, Marilyn L., Schultz, Roger A., Gojo, Ivana, Baer, Maria R.
Published in Leukemia & lymphoma (01.03.2014)
Published in Leukemia & lymphoma (01.03.2014)
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Journal Article
Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene
Demura, Masashi, Martin, Regina M., Shozu, Makio, Sebastian, Siby, Takayama, Kazuto, Hsu, Wei-Tong, Schultz, Roger A., Neely, Kirk, Bryant, Michael, Mendonca, Berenice B., Hanaki, Keiichi, Kanzaki, Susumu, Rhoads, David B., Misra, Madhusmita, Bulun, Serdar E.
Published in Human molecular genetics (01.11.2007)
Published in Human molecular genetics (01.11.2007)
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Journal Article
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes
Rosenfeld, Jill A., Drautz, Joanne Milisa, Clericuzio, Carol L., Cushing, Tom, Raskin, Salmo, Martin, Judith, Tervo, Raymond C., Pitarque, Jose A., Nowak, Dorota M., Karolak, Justyna A., Lamb, Allen N., Schultz, Roger A., Ballif, Blake C., Bejjani, Bassem A., Gajecka, Marzena, Shaffer, Lisa G.
Published in American journal of medical genetics. Part A (01.08.2011)
Published in American journal of medical genetics. Part A (01.08.2011)
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Journal Article
Upregulation of TRAG3 gene in urothelial carcinoma of the bladder
Karam, Jose A., Huang, Sandra, Fan, Jinhai, Stanfield, Jennifer, Schultz, Roger A., Pong, Rey‐Chen, Sun, Xiankai, Mason, Ralph P., Xie, Xian‐Jin, Niu, Gang, Chen, Xiaoyuan, Frenkel, Eugene P., Sagalowsky, Arthur I., Hsieh, Jer‐Tsong
Published in International journal of cancer (15.06.2011)
Published in International journal of cancer (15.06.2011)
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