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
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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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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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
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
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
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome
Rosenfeld, Jill A, Lacassie, Yves, El-Khechen, Dima, Escobar, Luis F, Reggin, James, Heuer, Carolyn, Chen, Emily, Jenkins, Lauren S, Collins, A. Thomas, Zinner, Samuel, Babcock, Melanie, Morrow, Bernice, Schultz, Roger A, Torchia, Beth S, Ballif, Blake C, Tsuchiya, Karen D, Shaffer, Lisa G
Published in European journal of medical genetics (01.01.2011)
Published in European journal of medical genetics (01.01.2011)
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Journal Article
Translocation (4;19)(q35;q13.1)–Associated Primitive round Cell Sarcoma: Report of a Case and Review of the Literature
Rakheja, Dinesh, Goldman, Stanton, Wilson, Kathleen S., Lenarsky, Carl, Weinthal, Joel, Schultz, Roger A.
Published in Pediatric and developmental pathology (01.05.2008)
Published in Pediatric and developmental pathology (01.05.2008)
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Journal Article
Genomic microarray analysis on formalin-fixed paraffin-embedded material for uveal melanoma prognostication
Minca, Eugen C, Tubbs, Raymond R, Portier, Bryce P, Wang, Zhen, Lanigan, Christopher, Aronow, Mary E, Triozzi, Pierre L, Singh, Arun, Cook, James R, Saunthararajah, Yogen, Plesec, Thomas P, Schoenfield, Lynn, Cawich, Victoria, Sulpizio, Scott, Schultz, Roger A
Published in Cancer genetics (01.07.2014)
Published in Cancer genetics (01.07.2014)
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Journal Article
Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis
Schultz, Roger A, Delioukina, Maria, Gaal, Karl, Bedell, Victoria, Smith, David D, Forman, Stephen J, McDaniel, Lisa D, Ballif, Blake C, Shaffer, Lisa G, Slovak, Marilyn L
Published in Molecular cytogenetics (03.02.2011)
Published in Molecular cytogenetics (03.02.2011)
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Journal Article
Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis
Kolquist, Kathryn A, Schultz, Roger A, Slovak, Marilyn L, McDaniel, Lisa D, Brown, Theresa C, Tubbs, Raymond R, Cook, James R, Theil, Karl S, Cawich, Victoria, Valentin, Caitlin, Minier, Sara, Neill, Nicholas J, Byerly, Steve, Morton, S Annie, Sahoo, Trilochan, Ballif, Blake C, Shaffer, Lisa G
Published in Molecular cytogenetics (16.11.2011)
Published in Molecular cytogenetics (16.11.2011)
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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
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
Mapping of a Single Locus Capable of Complementing the Defective Heterochromatin Phenotype of Roberts Syndrome Cells
McDaniel, Lisa D., Tomkins, Darrell J., Stanbridge, Eric J., Somerville, Martin J., Friedberg, Errol C., Schultz, Roger A.
Published in American journal of human genetics (01.07.2005)
Published in American journal of human genetics (01.07.2005)
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Journal Article
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
MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes
Bhoj, Elizabeth J, Romeo, Stefano, Baroni, Marco G, Bartov, Guy, Schultz, Roger A, Zinn, Andrew R
Published in Molecular cytogenetics (13.02.2009)
Published in Molecular cytogenetics (13.02.2009)
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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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