Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency von Peter, Hans H, Grimbacher, Bodo, Hutloff, Andreas, Schlesier, Michael, Glocker, Erik, Warnatz, Klaus, Dräger, Ruth, Eibel, Hermann, Fischer, Beate, Schäffer, Alejandro A, Mages, Hans W, Kroczek, Richard A

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Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans von Grimbacher, B, Salzer, U, Chapel, H M, Webster, A D B, Pan-Hammarström, Q, Schmitt-Graeff, A, Schlesier, M, Peter, H H, Rockstroh, J K, Schneider, P, Schäffer, A A, Hammarström, L

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Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity von Lopez-Herrera, Gabriela, Tampella, Giacomo, Pan-Hammarström, Qiang, Herholz, Peer, Trujillo-Vargas, Claudia M., Phadwal, Kanchan, Simon, Anna Katharina, Moutschen, Michel, Etzioni, Amos, Mory, Adi, Srugo, Izhak, Melamed, Doron, Hultenby, Kjell, Liu, Chonghai, Baronio, Manuela, Vitali, Massimiliano, Philippet, Pierre, Dideberg, Vinciane, Aghamohammadi, Asghar, Rezaei, Nima, Enright, Victoria, Du, Likun, Salzer, Ulrich, Eibel, Hermann, Pfeifer, Dietmar, Veelken, Hendrik, Stauss, Hans, Lougaris, Vassilios, Plebani, Alessandro, Gertz, E. Michael, Schäffer, Alejandro A., Hammarström, Lennart, Grimbacher, Bodo

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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) von Dahl, Niklas, Appaswamy, Giridharan, Schwinzer, Beate, Melin, Malin, Henter, Jan-Inge, Rathinam, Chozhavendan, Germeshausen, Manuela, Fadeel, Bengt, Bohn, Georg, Zeidler, Cornelia, Welte, Karl, Rezaei, Nima, Boztug, Kaan, Grimbacher, Bodo, Sandrock, Inga, Palmblad, Jan, Klein, Christoph, Schäffer, Alejandro A, Grudzien, Magda, Carlsson, Göran

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DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency von Volk, Timo, Pannicke, Ulrich, Reisli, Ismail, Bulashevska, Alla, Ritter, Julia, Björkman, Andrea, Schäffer, Alejandro A, Fliegauf, Manfred, Sayar, Esra H, Salzer, Ulrich, Fisch, Paul, Pfeifer, Dietmar, Di Virgilio, Michela, Cao, Hongzhi, Yang, Fang, Zimmermann, Karin, Keles, Sevgi, Caliskaner, Zafer, Güner, S Ükrü, Schindler, Detlev, Hammarström, Lennart, Rizzi, Marta, Hummel, Michael, Pan-Hammarström, Qiang, Schwarz, Klaus, Grimbacher, Bodo

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Protein database searches using compositionally adjusted substitution matrices von Altschul, Stephen F., Wootton, John C., Gertz, E. Michael, Agarwala, Richa, Morgulis, Aleksandr, Schäffer, Alejandro A., Yu, Yi‐Kuo

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Improving the accuracy of PSI-BLAST protein database searches with composition-based statistics and other refinements von Schäffer, A A, Aravind, L, Madden, T L, Shavirin, S, Spouge, J L, Wolf, Y I, Koonin, E V, Altschul, S F

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Aneuploidy, TP53 mutation, and amplification of MYC correlate with increased intratumor heterogeneity and poor prognosis of breast cancer patients von Oltmann, Johanna, Heselmeyer‐Haddad, Kerstin, Hernandez, Leanora S., Meyer, Rüdiger, Torres, Irianna, Hu, Yue, Doberstein, Natalie, Killian, J. Keith, Petersen, David, Zhu, Yuelin Jack, Edelman, Daniel C., Meltzer, Paul S., Schwartz, Russell, Gertz, E. Michael, Schäffer, Alejandro A., Auer, Gert, Habermann, Jens K., Ried, Thomas

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Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes von Salzer, Ulrich, Bacchelli, Chiara, Buckridge, Sylvie, Pan-Hammarström, Qiang, Jennings, Stephanie, Lougaris, Vassilis, Bergbreiter, Astrid, Hagena, Tina, Birmelin, Jennifer, Plebani, Alessandro, Webster, A. David B., Peter, Hans-Hartmut, Suez, Daniel, Chapel, Helen, McLean-Tooke, Andrew, Spickett, Gavin P., Anover-Sombke, Stephanie, Ochs, Hans D., Urschel, Simon, Belohradsky, Bernd H., Ugrinovic, Sanja, Kumararatne, Dinakantha S., Lawrence, Tatiana C., Holm, Are M., Franco, Jose L., Schulze, Ilka, Schneider, Pascal, Gertz, E. Michael, Schäffer, Alejandro A., Hammarström, Lennart, Thrasher, Adrian J., Gaspar, H. Bobby, Grimbacher, Bodo

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High Levels of Chromosomal Copy Number Alterations and TP53 Mutations Correlate with Poor Outcome in Younger Breast Cancer Patients von Koçak, Ayla, Heselmeyer-Haddad, Kerstin, Lischka, Annette, Hirsch, Daniela, Fiedler, David, Hu, Yue, Doberstein, Natalie, Torres, Irianna, Chen, Wei-Dong, Gertz, E. Michael, Schäffer, Alejandro A., Freitag-Wolf, Sandra, Kirfel, Jutta, Auer, Gert, Habermann, Jens K., Ried, Thomas

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WindowMasker: window-based masker for sequenced genomes von Morgulis, Aleksandr, Gertz, E. Michael, Schäffer, Alejandro A., Agarwala, Richa

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Gapped BLAST and PSI-BLAST: a new generation of protein database search programs von Altschul, S.F, Madden, T.L, Schaffer, A.A, Zhang, J.H, Zhang, Z, Miller, W, Lipman, D.J

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Phylogenetic analysis of multiple FISH markers in oral tongue squamous cell carcinoma suggests that a diverse distribution of copy number changes is associated with poor prognosis von Wangsa, Darawalee, Chowdhury, Salim Akhter, Ryott, Michael, Gertz, E. Michael, Elmberger, Göran, Auer, Gert, Åvall Lundqvist, Elisabeth, Küffer, Stefan, Ströbel, Philipp, Schäffer, Alejandro A., Schwartz, Russell, Munck‐Wikland, Eva, Ried, Thomas, Heselmeyer‐Haddad, Kerstin

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Sucrose-to-starch metabolism in tomato fruit undergoing transient starch accumulation von Schaffer, A.A. (Agricultural Research Organization, Bet Dagan, Israel.), Petreikov, M

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Deconstructing common variable immunodeficiency by genetic analysis von Schäffer, Alejandro A, Salzer, Ulrich, Hammarström, Lennart, Grimbacher, Bodo

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Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with klippel-feil syndrome : Cl... von SCHAFFER, Alyssa A, KAPLAN, Frederick S, TRACY, Michael R, O'BRIEN, Megan L, DORMANS, John P, SHORE, Eileen M, HARLAND, Richard M, KUSUMI, Kenro

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Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23 von Polymeropoulos, Mihael H., Higgins, Joseph J., Golbe, Lawrence I., Johnson, William G., Ide, Susan E., Di Iorio, Giuseppe, Sanges, Giuseppe, Stenroos, Edward S., Pho, Lana T., Schaffer, Alejandro A., Lazzarini, Alice M., Nussbaum, Robert L., Duvoisin, Roger C.

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Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo von He, Qianchuan, Madsen, Mette, Kilkenney, Adam, Gregory, Brittany, Christensen, Erik I., Vorum, Henrik, Højrup, Peter, Schäffer, Alejandro A., Kirkness, Ewen F., Tanner, Stephan M., de la Chapelle, Albert, Giger, Urs, Moestrup, Søren K., Fyfe, John C.

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A Genetic Linkage Map of Microsatellites in the Domestic Cat (Felis catus) von Menotti-Raymond, Marilyn, David, Victor A., Lyons, Leslie A., Schäffer, Alejandro A., Tomlin, James F., Hutton, Michelle K., O'Brien, Stephen J.

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A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1 von Johnston, Jennifer J., Kelley, Richard I., Crawford, Thomas O., Morton, D. Holmes, Agarwala, Richa, Koch, Thorsten, Schäffer, Alejandro A., Francomano, Clair A., Biesecker, Leslie G.

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