Strategies for exome and genome sequence data analysis in disease-gene discovery projects von Robinson, PN, Krawitz, P, Mundlos, S

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Identification of a founder mutation in KRT14 associated with Naegeli–Franceschetti–Jadassohn syndrome von Ralser, D.J., Kumar, S., Borisov, O., Sarig, O., Richard, G., Wolf, S., Krawitz, P.M., Sprecher, E., Kreiß, M., Betz, R.C.

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Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype von Parenti, I., Gervasini, C., Pozojevic, J., Graul-Neumann, L., Azzollini, J., Braunholz, D., Watrin, E., Wendt, K.S., Cereda, A., Cittaro, D., Gillessen-Kaesbach, G., Lazarevic, D., Mariani, M., Russo, S., Werner, R., Krawitz, P., Larizza, L., Selicorni, A., Kaiser, F.J.

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Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkerat... von Haghighi, A., Nikuei, P., Haghighi-Kakhki, H., Saleh-Gohari, N., Baghestani, S., Krawitz, P.M., Hecht, J., Mundlos, S.

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Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals von Schmetz, Ariane, Lüdecke, Hermann-Josef, Surowy, Harald, Sivalingam, Sugirtahn, Bruel, Ange-Line, Caumes, Roseline, Charles, Perrine, Chatron, Nicolas, Chrzanowska, Krystyna, Codina-Solà, Marta, Colson, Cindy, Cuscó, Ivon, Denommé-Pichon, Anne-Sophie, Edery, Patrick, Faivre, Laurence, Green, Andrew, Heide, Solveig, Hsieh, Tzung-Chien, Hustinx, Alexander, Kleinendorst, Lotte, Knopp, Cordula, Kraft, Florian, Krawitz, Peter M., Lasa-Aranzasti, Amaia, Lesca, Gaetan, López-González, Vanesa, Maraval, Julien, Mignot, Cyril, Neuhann, Teresa, Netzer, Christian, Oehl-Jaschkowitz, Barbara, Petit, Florence, Philippe, Christophe, Posmyk, Renata, Putoux, Audrey, Reis, André, Sánchez-Soler, María José, Suh, Julia, Tkemaladze, Tinatin, Tran Mau Them, Frédéric, Travessa, André, Trujillano, Laura, Valenzuela, Irene, van Haelst, Mieke M., Vasileiou, Georgia, Vincent-Delorme, Catherine, Walther, Mona, Verde, Pablo, Bramswig, Nuria C., Wieczorek, Dagmar

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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation von Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cerdá, Celia, Medrano, Celia, Arnoldy, Andrea, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A.W., Holleboom, Adriaan G., Nassogne, Marie-Cécile, Sokal, Etienne, Salomon, Jody, van den Bogaart, Geert, Drenth, Joost P.H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert, Foulquier, François, Marquardt, Thorsten, Lefeber, Dirk J.

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Sex-Specific Genetic Associations for Barrett’s Esophagus and Esophageal Adenocarcinoma von Dong, Jing, Maj, Carlo, Tsavachidis, Spiridon, Ostrom, Quinn T., Gharahkhani, Puya, Anderson, Lesley A., Wu, Anna H., Ye, Weimin, Bernstein, Leslie, Borisov, Oleg, Schröder, Julia, Chow, Wong-Ho, Gammon, Marilie D., Liu, Geoffrey, Caldas, Carlos, Pharoah, Paul D., Risch, Harvey A., May, Andrea, Gerges, Christian, Anders, Mario, Venerito, Marino, Schmidt, Thomas, Izbicki, Jakob R., Hölscher, Arnulf H., Schumacher, Brigitte, Vashist, Yogesh, Neuhaus, Horst, Rösch, Thomas, Knapp, Michael, Krawitz, Peter, Böhmer, Anne, Iyer, Prasad G., Reid, Brian J., Lagergren, Jesper, Shaheen, Nicholas J., Corley, Douglas A., Gockel, Ines, Fitzgerald, Rebecca C., Dong, Jing, Maj, Carlo, Tsavachidis, Spiridon, Ostrom, Quinn T., Gharahkhani, Puya, Anderson, Lesley A., Wu, Anna H., Ye, Weimin, Bernstein, Leslie, Borisov, Oleg, Schröder, Julia, Chow, Wong-Ho, Gammon, Marilie D., Liu, Geoffrey, Caldas, Carlos, Pharoah, Paul D., Risch, Harvey A., May, Andrea, Gerges, Christian, Anders, Mario, Venerito, Marino, Schmidt, Thomas, Izbicki, Jakob R., Hölscher, Arnulf H., Schumacher, Brigitte, Vashist, Yogesh, Neuhaus, Horst, Rösch, Thomas, Knapp, Michael, Krawitz, Peter, Böhmer, Anne, Iyer, Prasad G., Reid, Brian J., Lagergren, Jesper, Shaheen, Nicholas J., Corley, Douglas A., Gockel, Ines, Fitzgerald, Rebecca C., Cook, Michael B., Whiteman, David C., Vaughan, Thomas L., Schumacher, Johannes, Thrift, Aaron P., Cook, Michael B., Whiteman, David C., Vaughan, Thomas L., Schumacher, Johannes, Thrift, Aaron P.

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Effects of a two-day intensive OAT intake on the gut microbiome in participants with metabolic syndrome von Klümpen, L., Mantri, A., Seel, W., Stoffel-Wagner, B., Coenen, M., Nöthen, M., Krawitz, P., Stehle, P., Simon, M.-C.

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Effects Of Dietary Intervention On Plasma Lipid Profile Is Linked To Changes In The Microbiome Composition von Schieren, A., Huber, H., Mantri, A., Seel, W., Stoffel-Wagner, B., Coenen, M., Nöthen, M., Schmid, M., Weinhold, L., Krawitz, P., Stehle, P., Simon, M.-C.

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Impact of diet and body mass index on parameters of the gut-brain axis in obese subjects: results from a dietary intervention trial von Huber, H., Mantri, A., Seel, W., Stoffel-Wagner, B., Coenen, M., Nöthen, M., Schmid, M., Weinhold, L., Krawitz, P., Holst, J.J., Stehle, P., Simon, M.-C.

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Differential Localization and Identification of a Critical Aspartate Suggest Non-redundant Proteolytic Functions of the Presenilin Homologues SPPL2b and SPPL3 von Krawitz, Peter, Haffner, Christof, Fluhrer, Regina, Steiner, Harald, Schmid, Bettina, Haass, Christian

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Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function von Zhao, Jin James, Halvardson, Jonatan, Knaus, Alexej, Georgii‐Hemming, Patrik, Baeck, Peter, Krawitz, Peter M., Thuresson, Ann‐Charlotte, Feuk, Lars

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Personalisierte Medizin durch individuelle Genome von Krawitz, P.

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A 6-week intervention with a nordic-like dietary pattern increased gut microbial diversity only in obese subjects showing a diet-improved lipid metabolism von Huber, H., Mantri, A., Seel, W., Schieren, A., Stoffel-Wagner, B., Coenen, M., Nöthen, M., Schmid, M., Krawitz, P., Stehle, P., Simon, M.-C.

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Strategies for exome and genome sequence data analysis in disease-gene discovery projects: EXOME SEQUENCING von ROBINSON, P. N, KRAWITZ, P, MUNDLOS, S

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Blockage of a Krupin valve tube von Krawitz, P L

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Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome von Zemojtel, T, Kahler, S, Mackenroth, L, Jager, M, Hecht, J, Krawitz, P, Graul-Neumann, L, Doelken, S, Ehmke, N, Spielmann, M, Christine, N, Schweiger, M, Krager, U, Frommer, G, Fischer, B, Kornak, U, Ardeshirdavani, Amin, Moreau, Yves, Lewis, S, Haendel, M, Smedley, D, Horn, D, Mundlos, S, NRobinson, P

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Personalisierte Medizin durch individuelle Genome von Krawitz, P.

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Dependence of age-specific incidence of acute myeloid leukemia on karyotype von Schoch, Claudia, Kern, Wolfgang, Krawitz, Peter, Dugas, Martin, Schnittger, Susanne, Haferlach, Torsten, Hiddemann, Wolfgang

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Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome von Knaus, A, Awaya, T, Helbig, I, Afawi, Z, Pendziwiat, M, Abu-Rachma, J, Thompson, MD, Cole, DE, Skinner, S, Annese, F, Canham, N, Schweiger, MR, Robinson, PN, Mundlos, S, Kinoshita, T, Munnich, A, Murakami, Y, Horn, D, Krawitz, PM

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