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Dworschak, G. C., Punetha, J., Kalanithy, J. C., Mingardo, E., Erdem, H. B., Akdemir, Z. C., Karaca, E., Mitani, T., Marafi, D., Fatih, J. M., Jhangiani, S. N., Hunter, J. V., Dakal, T., Dhabhai, B., Dabbagh, O., Alsaif, H. S., Alkuraya, F. S., Maroofian, R., Houlden, H., Efthymiou, S., Dominik, N., Salpietro, V., Sultan, T., Haider, S., Bibi, F., Thiele, H., Hoefele, J., Riedhammer, K. M., Wagner, M., Guella, I., Demos, M., Keren, B., Buratti, J., Charles, P., Nava, C., Valkanas, E., Waddell, L. B., Jones, K. J., Oates, E. C., Cooper, S. T., MacArthur, D., Schnur, R. E., Hoganson, G. E., Burton, J. E., McEntagart, M., Pehlivan, D., Posey, J. E., Lupski, J. R. and Reutter, H. (2020). Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomalies. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 130 - 132. LONDON: SPRINGERNATURE. ISSN 1476-5438
Hoebel, A. K., Drichel, D., van de Vorst, M., Boehmer, A. C., Sivalingam, S., Ishorst, N., Klamt, J., Goelz, L., Alblas, M., Maaser, A., Keppler, K., Zink, A. M., Dixon, M. J., Dixon, J., Hemprich, A., Kruse, T., Graf, I., Dunsche, A., Schmidt, G., Daratsianos, N., Nowak, S., Aldhorae, K. A., Noethen, M. M., Knapp, M., Thiele, H., Gilissen, C., Reutter, H., Hoischen, A., Mangold, E. and Ludwig, K. U. (2017). Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing. J. Dent. Res., 96 (11). S. 1314 - 1322. THOUSAND OAKS: SAGE PUBLICATIONS INC. ISSN 1544-0591
Hoelzel, S., Ishorst, N., Greve, C., Degenhardt, F., Drichel, D., Maj, C., Nothnagel, M. 
ORCID: 0000-0001-8305-7114, Hehir-Kwa, J. Y., Veltman, J. A., Kruse, T., Reutter, H., Nowak, S., Carels, C., van Rooij, I., Ludwig, K. U. and Mangold, E.
(2020).
Nonsyndromic orofacial clefts - Identifying putative causative genes by CNV analysis of whole exome sequencing data.
Eur. J. Hum. Genet., 28 (SUPPL 1).
S. 839 - 840.
LONDON:
SPRINGERNATURE.
ISSN 1476-5438
Kolvenbach, C. M. K., Weitensteiner, V., Thiele, H., Altmueller, J., Ludwig, M., Ludwig, K., Hilger, A. C., Zhang, R., Hepping, N. and Reutter, H. (2018). Whole-exome sequencing in a three generation family with autosomal-dominant inherited omphalocele. Eur. J. Hum. Genet., 26. S. 982 - 984. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
Ludwig, K. U., Boehmer, A. C., Rubini, M., Mossey, P. A., Herms, S., Nowak, S., Reutter, H., Alblas, M. A., Lippke, B., Barth, S., Paredes-Zenteno, M., Munoz-Jimenez, S. G., Ortiz-Lopez, R., Kreusch, T., Hemprich, A., Martini, M., Braumann, B., Jaeger, A., Poetzsch, B., Molloy, A., Peterlin, B., Hoffmann, P., Noethen, M. M., Rojas-Martinez, A., Knapp, M., Steegers-Theunissen, R. P. and Mangold, E. (2014). Strong Association of Variants around FOXE1 and Orofacial Clefting. J. Dent. Res., 93 (4). S. 376 - 382. THOUSAND OAKS: SAGE PUBLICATIONS INC. ISSN 1544-0591
Waffenschmidt, L., Schneider, S., Altmueller, J., Thiele, H., Weber, S., Roesch, W., Merz, W. M., Feldkotter, M., Hoppe, B., Schalk, G., Zaniew, M., Reutter, H., Schreuder, M. F., Beckers, G. M. A., van Wijk, J. A. E. and Hilger, A. C. (2020). ZSCAN12, a candidate gene for congenital lower urinary tract obstruction (LUTO). Eur. J. Hum. Genet., 28 (SUPPL 1). S. 221 - 223. LONDON: SPRINGERNATURE. ISSN 1476-5438
Zwink, N., Choinitzki, V., Baudisch, F., Hoelscher, A., Boemers, T. M., Turial, S., Kurz, R., Heydweiller, A., Keppler, K., Mueller, A., Bagci, S., Pauly, M., Brokmeier, U., Leutner, A., Degenhardt, P., Schmiedeke, E., Maerzheuser, S., Grasshoff-Derr, S., Holland-Cunz, S., Palta, M., Schaefer, M., Ure, B. M., Lacher, M., Noethen, M. M., Schumacher, J., Jenetzky, E. and Reutter, H. (2016). Comparison of environmental risk factors for esophageal atresia, anorectal malformations, and the combined phenotype in 263 German families. Dis. Esophagus, 29 (8). S. 1032 - 1043. CARY: OXFORD UNIV PRESS INC. ISSN 1442-2050