Items where Author is "Krawczak, Michael"

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Number of items: 74.


Caliebe, A., Harder, M., Schuett, R., Krawczak, M., Nebel, A. and von Wurmb-Schwark, N. (2016) The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population. European Journal of Human Genetics, 24 (5). pp. 739-747. DOI 10.1038/ejhg.2015.167.


Coble, M. D., Buckleton, J., Butler, J. M., Egeland, T., Fimmers, R., Gill, P., Gusmao, L., Guttman, B., Krawczak, M., Morling, N., Parson, W., Pinto, N., Schneider, P. M., Sherry, S. T., Willuweit, S. and Prinz, M. (2016) DNA Commission of the International Society for Forensic Genetics: Recommendations on the validation of software programs performing biostatistical calculations for forensic genetics applications. Forensic Science International-Genetics, 25 . pp. 191-197. DOI http://dx.doi.org/10.1016/j.fsigen.2016.09.002.


Diegoli, T. M., Rohde, H., Borowski, S., Krawczak, M., Coble, M. D. and Nothnagel, M. (2016) Genetic mapping of 15 human X chromosomal forensic short tandem repeat (STR) loci by means of multi-core parallelization. Forensic Science International: Genetics, 25 . pp. 39-44. DOI 10.1016/j.fsigen.2016.07.004.


Knecht, C., Fretter, C., Rosenstiel, P., Krawczak, M. and Hutt, M. T. (2016) Distinct metabolic network states manifest in the gene expression profiles of pediatric inflammatory bowel disease patients and controls. Scientific Reports, 6 . DOI 10.1038/srep32584.


Knecht, C., Mort, M., Junge, O., Cooper, D. N., Krawczak, M. and Caliebe, A. (2016) IMHOTEP—a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants. Nucleic Acids Research, 45 . gkw886. DOI 10.1093/nar/gkw886.


Seemanova, E., Varon, R., Vejvalka, J., Jarolim, P., Seeman, P., Chrzanowska, K. H., Digweed, M., Resnick, I., Kremensky, I., Saar, K., Hoffmann, K., Dutrannoy, V., Karbasiyan, M., Ghani, M., Baric, I., Tekin, M., Kovacs, P., Krawczak, M., Reis, A., Sperling, K. and Nothnagel, M. (2016) The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?. Plos One, 11 (12). DOI http://dx.doi.org/10.1371/journal.pone.0167984.


Szymczak, S., Muller, S., Hopfner, F., Kuhlenbaumer, G., Krawczak, M. and Dempfle, A. (2016) Comparison of Variant Calling Software for Pooled Sequencing Studies. Genetic Epidemiology, 40 (7). p. 666.


Widdig, A., Kessler, M. J., Bercovitch, F. B., Berard, J. D., Duggleby, C., Nurnberg, P., Rawlins, R. G., Sauermann, U., Wang, Q., Krawczak, M. and Schmidtke, J. (2016) Genetic Studies on the Cayo Santiago Rhesus Macaques: A Review of 40 Years Of Research. American Journal of Primatology, 78 (1). pp. 44-62. DOI 10.1002/ajp.22424.


Caliebe, A., Jochens, A., Willuweit, S., Roewer, L. and Krawczak, M. (2015) No shortcut solution to the problem of Y-STR match probability calculation. Forensic Science International-Genetics, 15 . pp. 69-75.


Grassmann, F., Friedrich, U., Fauser, S., Schick, T., Milenkovic, A., Schulz, H. L., von Strachwitz, C. N., Bettecken, T., Lichtner, P., Meitinger, T., Arend, N., Wolf, A., Haritoglou, C., Rudolph, G., Chakravarthy, U., Silvestri, G., McKay, G. J., Freitag-Wolf, S., Krawczak, M., Smith, R. T., Merriam, J. C., Merriam, J. E., Allikmets, R., Heid, I. M. and Weber, B. H. F. (2015) A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD). Neuromolecular Medicine, 17 (2). pp. 111-120.


Nutsua, M. E., Fischer, A., Nebel, A., Hofmann, S., Schreiber, S., Krawczak, M. and Nothnagel, M. (2015) Family-Based Benchmarking of Copy Number Variation Detection Software. Open Access Plos One, 10 (7).


Siegert, S., Wolf, A., Cooper, D. N., Krawczak, M. and Nothnagel, M. (2015) Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense. Open Access Plos One, 10 (7).


Szymczak, S. and Krawczak, M. (2015) Integrating biological knowledge and omics datausing network and module guided random forests. Genetic Epidemiology, 39 (7). pp. 584-585.


Yadav, P., Freitag-Wolf, S., Lieb, W. and Krawczak, M. (2015) The role of linkage disequilibrium in case-only studies of gene-environment interactions. Human Genetics, 134 (1). pp. 89-96.


Yadav, P., Freitag-Wolf, S., Lieb, W., Dempfle, A. and Krawczak, M. (2015) Allowing for population stratification in case-only studies of gene-environment interaction, using genomic control. Human Genetics, 134 (10). pp. 1117-1125.


Bettecken, T., Pfeufer, A., Sudbrak, R., Siddiqui, R., Franke, A., Wienker, T. F. and Krawczak, M. (2014) Next generation sequencing in diagnostic practice. From variant to diagnosis. Medizinische Genetik, 26 (1). pp. 21-27.


Daeumer, C., Flachsbart, F., Caliebe, A., Schreiber, S., Nebel, A. and Krawczak, M. (2014) Adjustment for smoking does not alter the FOXO3A association with longevity. Age, 36 (2). pp. 911-921.


Knecht, C. and Krawczak, M. (2014) Molecular genetic epidemiology of human diseases: from patterns to predictions. Human Genetics, 133 (4). pp. 425-430.


Krawczak, M. and Goebel, J. (2014) Causality of incest: a reply to ten Kate. International Journal of Legal Medicine, 128 (5). p. 747.


Meder, B., Ruehle, F., Weis, T., Homuth, G., Keller, A., Franke, J., Peil, B., Bermejo, J. L., Frese, K., Huge, A., Witten, A., Vogel, B., Haas, J., Voelker, U., Ernst, F., Teumer, A., Ehlermann, P., Zugck, C., Friedrichs, F., Kroemer, H., Doerr, M., Hoffmann, W., Maisch, B., Pankuweit, S., Ruppert, V., Scheffold, T., Kuehl, U., Schultheiss, H. P., Kreutz, R., Ertl, G., Angermann, C., Charron, P., Villard, E., Gary, F., Isnard, R., Komajda, M., Lutz, M., Meitinger, T., Sinner, M. F., Wichmann, H. E., Krawczak, M., Ivandic, B., Weichenhan, D., Gelbrich, G., El-Mokhtari, N. E., Schreiber, S., Felix, S. B., Hasenfuss, G., Pfeufer, A., Huebner, N., Kaeaeb, S., Arbustini, E., Rottbauer, W., Frey, N., Stoll, M. and Katus, H. A. (2014) A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy. European Heart Journal, 35 (16). 1069-+.


Purps, J., Siegert, S., Willuweit, S., Nagy, M., Alves, C., Salazar, R., Angustia, S. M. T., Santos, L. H., Anslinger, K., Bayer, B., Ayub, Q., Wei, W., Xue, Y., Tyler-Smith, C., Bafalluy, M. B., Martinez-Jarreta, B., Egyed, B., Balitzki, B., Tschumi, S., Ballard, D., Court, D. S., Barrantes, X., Bassler, G., Wiest, T., Berger, B., Niederstaetter, H., Parson, W., Davis, C., Budowle, B., Burri, H., Borer, U., Koller, C., Carvalho, E. F., Domingues, P. M., Chamoun, W. T., Coble, M. D., Hill, C. R., Corach, D., Caputo, M., D'Amato, M. E., Davison, S., Decorte, R., Larmuseau, M. H. D., Ottoni, C., Rickards, O., Lu, D., Jiang, C., Dobosz, T., Jonkisz, A., Frank, W. E., Furac, I., Gehrig, C., Castella, V., Grskovic, B., Haas, C., Wobst, J., Hadzic, G., Drobnic, K., Honda, K., Hou, Y., Zhou, D., Li, Y., Hu, S., Chen, S., Immel, U. D., Lessig, R., Jakovski, Z., Ilievska, T., Klann, A. E., Garcia, C. C., de Knijff, P., Kraaijenbrink, T., Kondili, A., Miniati, P., Vouropoulou, M., Kovacevic, L., Marjanovic, D., Lindner, I., Mansour, I., Al-Azem, M., El Andari, A., Marino, M., Furfuro, S., Locarno, L., Martin, P., Luque, G. M., Alonso, A., Miranda, L. S., Moreira, H., Mizuno, N., Iwashima, Y., Moura Neto, R. S., Nogueira, T. L. S., Silva, R., Nastainczyk-Wulf, M., Edelmann, J., Kohl, M., Nie, S., Wang, X., Cheng, B., Nunez, C., Martinez de Pancorbo, M., Olofsson, J. K., Morling, N., Onofri, V., Tagliabracci, A., Pamjav, H., Volgyi, A., Barany, G., Pawlowski, R., Maciejewska, A., Pelotti, S., Pepinski, W., Abreu-Glowacka, M., Phillips, C., Cardenas, J., Rey-Gonzalez, D., Salas, A., Brisighelli, F., Capelli, C., Toscanini, U., Piccinini, A., Piglionica, M., Baldassarra, S. L., Ploski, R., Konarzewska, M., Jastrzebska, E., Robino, C., Sajantila, A., Palo, J. U., Guevara, E., Salvador, J., Corazon De Ungria, M., Russell Rodriguez, J. J., Schmidt, U., Schlauderer, N., Saukko, P., Schneider, P. M., Sirker, M., Shin, K. J., Oh, Y. N., Skitsa, I., Ampati, A., Smith, T. G., de Calvit, L. S., Stenzl, V., Capal, T., Tillmar, A., Nilsson, H., Turrina, S., De Leo, D., Verzeletti, A., Cortellini, V., Wetton, J. H., Gwynne, G. M., Jobling, M. A., Whittle, M. R., Sumita, D. R., Wolanska-Nowak, P., Yong, R. Y. Y., Krawczak, M., Nothnagel, M. and Roewer, L. (2014) A global analysis of Y-chromosomal haplotype diversity for 23 STR loci. Forensic Science International-Genetics, 12 . pp. 12-23.


Stade, B., Seelow, D., Thomsen, I., Krawczak, M. and Franke, A. (2014) GrabBlur - a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files. Bmc Genomics, 15 .


Stickel, F., Buch, S., Zoller, H., Hultcrantz, R., Gallati, S., Oesterreicher, C., Finkenstedt, A., Stadlmayr, A., Aigner, E., Sahinbegovic, E., Sarrazin, C., Schafmayer, C., Braun, F., Erhart, W., Nothnagel, M., Lerch, M. M., Mayerle, J., Voelzke, H., Schaller, A., Kratzer, W., Boehm, B. O., Sipos, B., D'Amato, M., Torkvist, L., Stal, P., Arlt, A., Franke, A., Becker, T., Krawczak, M., Zwerina, J., Berg, T., Hinrichsen, H., Krones, E., Dejaco, C., Strasser, M., Datz, C. and Hampe, J. (2014) Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis. Human Molecular Genetics, 23 (14). pp. 3883-3890.


Yang, R., Chen, B., Pfuetze, K., Buch, S., Steinke, V., Holinski-Feder, E., Stoecker, S., von schoenfels, W., Becker, T., Schackert, H. K., Royer-Pokora, B., Kloor, M., Schmiegel, W. H., Buettner, R., Engel, C., Puertolas, J. L., Foersti, A., Kunkel, N., Bugert, P., Schreiber, S., Krawczak, M., Schafmayer, C., Propping, P., Hampe, J., Hemminki, K. and Burwinkel, B. (2014) Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3. Carcinogenesis, 35 (2). pp. 315-323.


Andersen, M. M., Caliebe, A., Jochens, A., Willuweit, S. and Krawczak, M. (2013) Estimating trace-suspect match probabilities for singleton Y-STR haplotypes using coalescent theory. Forensic Science International-Genetics, 7 (2). pp. 264-271.


Balding, D. J., Krawczak, M., Buckleton, J. S. and Curran, J. M. (2013) Decision-making in familial database searching: KI alone or not alone?. Forensic Science International-Genetics, 7 (1). pp. 52-54.


Cooper, D. N., Krawczak, M., Polychronakos, C., Tyler-Smith, C. and Kehrer-Sawatzki, H. (2013) Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Human Genetics, 132 (10). pp. 1077-1130.


Dickmann, F., Mathieu, N., Grutz, R. and Krawczak, M. (2013) Management and preservation of genome research data. Medizinische Genetik, 25 (1). pp. 15-21.


Grutz, R., Mathieu, N., Lohnhardt, B., Weil, P. and Krawczak, M. (2013) Archiving genome data. Medizinische Genetik, 25 (3). pp. 388-394.


Haase, C., Shved, N., Ruhli, F. J., Papageorgopoulou, C., Purps, J., Geppert, M., Willuweit, S., Roewer, L. and Krawczak, M. (2013) Y-chromosomal analysis identifies the skeletal remains of Swiss national hero Jorg Jenatsch (1596-1639). Forensic Science International-Genetics, 7 (6). pp. 610-617.


Koch, M., Jacobs, G., Hampe, J., Rosenstiel, P., Krawczak, M. and Nothlings, U. (2013) Higher Fetuin-A Level Is Associated with Coexistence of Elevated Alanine Aminotransferase and the Metabolic Syndrome in the General Population. Metabolic Syndrome and Related Disorders, 11 (6). pp. 377-384. DOI 10.1089/met.2013.0078.


Mathieu, N., Lohnhardt, B., Grutz, R., Weil, P., Drepper, J. and Krawczak, M. (2013) Ethical and legal implications of storing human genomic data. Medizinische Genetik, 25 (2). pp. 278-283.


Roewer, L., Nothnagel, M., Gusmao, L., Gomes, V., Gonzalez, M., Corach, D., Sala, A., Alechine, E., Palha, T., Santos, N., Ribeiro-dos-Santos, A., Geppert, M., Willuweit, S., Nagy, M., Zweynert, S., Baeta, M., Nunez, C., Martinez-Jarreta, B., Gonzalez-Andrade, F., de Carvalho, E. F., da Silva, D. A., Builes, J. J., Turbon, D., Parra, A. M. L., Arroyo-Pardo, E., Toscanini, U., Borjas, L., Barletta, C., Ewart, E., Santos, S. and Krawczak, M. (2013) Continent-Wide Decoupling of Y-Chromosomal Genetic Variation from Language and Geography in Native South Americans. PLoS Genetics, 9 (4).


Siegert, S., Hampe, J., Schafmayer, C., von Schonfels, W., Egberts, J. H., Forsti, A., Chen, B. W., Lascorz, J., Hemminki, K., Franke, A., Nothnagel, M., Nothlings, U. and Krawczak, M. (2013) Genome-wide investigation of gene-environment interactions in colorectal cancer. Human Genetics, 132 (2). pp. 219-231.


Siegert, S., Yu, Z. H., Wang-Sattler, R., Illig, T., Adamski, J., Hampe, J., Nikolaus, S., Schreiber, S., Krawczak, M., Nothnagel, M. and Nothlings, U. (2013) Diagnosing Fatty Liver Disease: A Comparative Evaluation of Metabolic Markers, Phenotypes, Genotypes and Established Biomarkers. Open Access PLoS ONE, 8 (10).


Yadav, P., Freitag-Wolf, S. and Krawczak, M. (2013) Exploiting Linkage Disequilibrium to Detect GxE Interactions in Case-Only Studies. Human Heredity, 76 (2). p. 101.


von Schonfels, W., Buch, S., Wolk, M., Aselmann, H., Egberts, J. H., Schreiber, S., Krawczak, M., Becker, T., Hampe, J. and Schafmayer, C. (2013) Recurrence of gallstones after cholecystectomy is associated with ABCG5/8 genotype. Journal of Gastroenterology, 48 (3). pp. 391-396.


Brosch, M., von Schoenfels, W., Ahrens, M., Nothnagel, M., Krawczak, M., Laudes, M., Sipos, B., Becker, T., Schreiber, S., Roecken, C., Schafmayer, C. and Hampe, J. (2012) SFRS10-A Splicing Factor Gene Reduced in Human Obesity?. Cell Metabolism, 15 (3). pp. 265-266.


Clarke, A. J., Cooper, D. N., Krawczak, M., Tyler-Smith, C., Wallace, H. M., Wilkie, A. O. M., Raymond, F. L., Chadwick, R., Craddock, N., John, R., Gallacher, J. and Chiano, M. (2012) 'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care. Human Genomics, 6 .


Fritsch, C., Herrmann, A., Nothnagel, M., Szafranski, K., Huse, K., Schumann, F., Schreiber, S., Platzer, M., Krawczak, M., Hampe, J. and Brosch, M. (2012) Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting. Genome Research, 22 (11). pp. 2208-2218.


Grond-Ginsbach, C., Chen, B., Pjontek, R., Wiest, T., Jiang, Y., Burwinkel, B., Tchatchou, S., Krawczak, M., Schreiber, S., Brandt, T., Kloss, M., Arnold, M. L., Hemminki, K., Lichy, C., Lyrer, P. A., Hausser, I. and Engelter, S. T. (2012) Copy number variation in patients with cervical artery dissection. European Journal of Human Genetics, 20 (12). pp. 1295-1299.


Hastings, R., de Wert, G., Fowler, B., Krawczak, M., Vermeulen, E., Bakker, E., Borry, P., Dondorp, W., Nijsingh, N., Barton, D., Schmidtke, J., van El, C. G., Vermeesch, J., Stol, Y., Howard, H. C. and Cornel, M. C. (2012) The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe. European Journal of Human Genetics, 20 (9). pp. 911-916.


Jochens, A., Caliebe, A., Roesler, U. and Krawczak, M. (2012) Empirical evaluation of microsatellite mutation models. Annals of Human Genetics, 76 . pp. 410-411.


Krawczak, M., Cooper, D. N., Faendrich, F., Engel, W. and Schmidtke, J. (2012) How to distinguish genetically between an alleged father and his monozygotic twin: A thought experiment. Forensic Science International-Genetics, 6 (5). E129-E130.


Nothnagel, M., Herrmann, A., Wolf, A., Schreiber, S., Platzer, M., Krawczak, M. and Hampe, J. (2012) A Framework To Assess Technology-Specific Error Signatures In Next-Generation Sequencing, With An Application To The 1000 Genomes Project Data. Genetic Epidemiology, 36 (2). p. 118.


Nutsua, M., Krawczak, M. and Nothnagel, M. (2012) A comparison of CNV calling algorithms and analysis software. Annals of Human Genetics, 76 . p. 429.


Wolf, A., Caliebe, A., Thomas, N., Ball, E., Mort, M., Stenson, P., Krawczak, M. and Cooper, D. (2012) Single base-pair substitutions at the translational initiation sites as a cause of inherited disease in humans. Annals of Human Genetics, 76 . p. 411.


Becker, F., van El, C. G., Ibarreta, D., Zika, E., Hogarth, S., Borry, P., Cambon-Thomsen, A., Cassiman, J. J., Evers-Kiebooms, G., Hodgson, S., Janssens, A., Kaariainen, H., Krawczak, M., Kristoffersson, U., Lubinski, J., Patch, C., Penchaszadeh, V. B., Read, A., Rogowski, W., Sequeiros, J., Tranebjaerg, L., van Langen, I. M., Wallace, H., Zimmern, R., Schmidtke, J. and Cornel, M. C. (2011) Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Background Document to the ESHG recommendations on genetic testing and common disorders. European Journal of Human Genetics, 18 . S6-S44. DOI 10.1038/ejhg.2010.249.


Buckleton, J. S., Krawczak, M. and Weir, B. S. (2011) The interpretation of lineage markers in forensic DNA testing. Forensic Science International-Genetics, 5 (2). pp. 78-83. DOI 10.1016/j.fsigen.2011.01.010.


Greco, F. M. D., Pattaro, C., Luchner, A., Pichler, I., Winkler, T., Hicks, A. A., Fuchsberger, C., Franke, A., Melville, S. A., Peters, A., Wichmann, H. E., Schreiber, S., Heid, I. M., Krawczak, M., Minelli, C., Wiedermann, C. J. and Pramstaller, P. P. (2011) Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster. Human Molecular Genetics, 20 (8). pp. 1660-1671. DOI 10.1093/hmg/ddr035.


Herrmann, A., Haake, A., Ammerpohl, O., Martin-Guerrero, I., Szafranski, K., Stemshorn, K., Nothnagel, M., Kotsopoulos, S. K., Richter, J., Warner, J., Olson, J., Link, D. R., Schreiber, S., Krawczak, M., Platzer, M., Nurnberg, P., Siebert, R. and Hampe, J. (2011) Pipeline for Large-Scale Microdroplet Bisulfite PCR-Based Sequencing Allows the Tracking of Hepitype Evolution in Tumors. Open Access PLoS ONE, 6 (7). DOI e21332 10.1371/journal.pone.0021332.


Kiehntopf, M. and Krawczak, M. (2011) Biobanking and international interoperability: samples. Human Genetics, 130 (3). pp. 369-376. DOI 10.1007/s00439-011-1068-8.


Nebel, A., Kleindorp, R., Caliebe, A., Nothnagel, M., Blanche, H., Junge, O., Wittig, M., Ellinghaus, D., Flachsbart, F., Wichmann, H. E., Meitinger, T., Nikolaus, S., Franke, A., Krawczak, M., Lathrop, M. and Schreiber, S. (2011) A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals. Mechanisms of Ageing and Development, 132 (6-7). pp. 324-330. DOI 10.1016/j.mad.2011.06.008.


Nothnagel, M., Herrmann, A., Wolf, A., Schreiber, S., Platzer, M., Siebert, R., Krawczak, M. and Hampe, J. (2011) Technology-specific error signatures in the 1000 Genomes Project data. Human Genetics, 130 (4). pp. 505-516. DOI 10.1007/s00439-011-0971-3.


Nothnagel, M., Wolf, A., Herrmann, A., Szafranski, K., Vater, I., Brosch, M., Huse, K., Siebert, R., Platzer, M., Hampe, J. and Krawczak, M. (2011) Statistical Inference of Allelic Imbalance from Transcriptome Data. Human Mutation, 32 (1). pp. 98-106. DOI 10.1002/humu.21396.


Siddiqui, R. A., Krawczak, M., Platzer, M. and Sauermann, U. (2011) Association of TLR7 Variants with AIDS-Like Disease and AIDS Vaccine Efficacy in Rhesus Macaques. Open Access PLoS ONE, 6 (10). DOI e25474 10.1371/journal.pone.0025474.


Stickel, F., Buch, S., Lau, K., Schwabedissen, H. M. Z., Berg, T., Ridinger, M., Rietschel, M., Schafmayer, C., Braun, F., Hinrichsen, H., Gunther, R., Arlt, A., Seeger, M., Muller, S., Seitz, H. K., Soyka, M., Lerch, M., Lammert, F., Sarrazin, C., Kubitz, R., Haussinger, D., Hellerbrand, C., Broring, D., Schreiber, S., Kiefer, F., Spanagel, R., Mann, K., Datz, C., Krawczak, M., Wodarz, N., Volzke, H. and Hampe, J. (2011) Genetic Variation in the PNPLA3 Gene Is Associated with Alcoholic Liver Injury in Caucasians. Hepatology, 53 (1). pp. 86-95. DOI 10.1002/hep.24017.


Wolf, A., Caliebe, A., Thomas, N. S. T., Ball, E. V., Mort, M., Stenson, P. D., Krawczak, M. and Cooper, D. N. (2011) Single Base-Pair Substitutions at the Translation Initiation Sites of Human Genes as a Cause of Inherited Disease. Human Mutation, 32 (10). pp. 1137-1143. DOI 10.1002/humu.21547.


von Kampen, O., Buch, S., Schafmayer, C., Michael, N., Brosch, M., von Schonfels, W., Egberts, J. H., Azocar, L., ElSharawy, A., Franke, A., Lerch, M. M., Mayerle, J., Kratzer, W., Boehm, B. O., Schniewind, B., Becker, T., Schreiber, S., Krawczak, M., Miquel, J. F., Volzke, H. and Hampe, J. (2011) GENETIC AND FUNCTIONAL IDENTIFICATION OF THE LIKELY CAUSATIVE VARIANT FOR GALLSTONE DISEASE AT THE ABCG5/8 LITHOGENIC LOCUS. Hepatology, 54 . 729A-729A.

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Bohm, I., Groning, A., Sommer, B., Muller, H. W., Krawczak, M. and Glaubitz, R. (2009) A German Chlamydia trachomatis screening program employing semi-automated real-time PCR: results and perspectives. Journal of Clinical Virology, 46 . S27-S32. DOI 10.1016/S1386-6532(09)70298-7.

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Estrada, K., Krawczak, M., Schreiber, S., van Duijn, K., Stolk, L., van Meurs, J. B. J., Liu, F., Penninx, B. W. J. H., Smit, J. H., Vogelzangs, N., Hottenga, J. J., Willemsen, G., de Geus, E. J. C., Lorentzon, M., von Eller-Eberstein, H., Lips, P., Schoor, N., Pop, V., de Keijzer, J., Hofman, A., Aulchenko, Y. S., Oostra, B. A., Ohlsson, C., Boomsma, D. I., Uitterlinden, A. G., van Duijn, C. M., Rivadeneira, F. and Kayser, M. (2009) A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Human Molecular Genetics, 18 (18). pp. 3516-3524. DOI 10.1093/hmg/ddp296.


Fritsche, L. G., Freita-Wolf, S., Bettecken, T., Meitinger, T., Keilhauer, C. N., Krawczak, M. and Weber, B. H. F. (2009) Age-Related Macular Degeneration and Functional Promoter and Coding Variants of the Apolipoprotein E Gene. Human Mutation, 30 (7). pp. 1048-1053. DOI 10.1002/humu.20957.

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Kirsch, S., Pasantes, J., Wolf, A., Bogdanova, N., Munch, C., Markoff, A., Pennekamp, P., Krawczak, M., Dworniczak, B. and Schempp, W. (2009) Correction: Chromosomal evolution of the PKD1 gene family in primates (vol 8, pg 263, 2008). Open Access Bmc Evolutionary Biology, 9 .


Krawczak, M. and Nothnagel, M. (2009) Kinship testing goes linkage. Annals of Human Genetics, 73 . p. 665. DOI 10.1002/9780470015902.a0005453.pub2.

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Lu, T. T., Lao, O., Nothnagel, M., Junge, O., Freitag-Wolf, S., Caliebe, A., Balascakova, M., Bertranpetit, J., Bindoff, L. A., Comas, D., Holmlund, G., Kouvatsi, A., Macek, M., Mollet, I., Nielsen, F., Parson, W., Palo, J., Ploski, R., Sajantila, A., Tagliabracci, A., Gether, U., Werge, T., Rivadeneira, F., Hofman, A., Uitterlinden, A. G., Gieger, C., Wichmann, H. E., Ruether, A., Schreiber, S., Becker, C., Nurnberg, P., Nelson, M. R., Kayser, M. and Krawczak, M. (2009) An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population. Open Access European Journal of Human Genetics, 17 (7). pp. 967-975. DOI 10.1038/ejhg.2008.266.

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Möckelmann, N., von Schönfels, W., Buch, S., von Kampen, O., Sipos, B., Egberts, J. H., Rosenstiel, P., Franke, A., Brosch, M., Hinz, S., Röder, C., Kalthoff, H., Fölsch, U. R., Krawczak, M., Schreiber, S., Bröring, C. D., Tepel, J., Schafmayer, C. and Hampe, J. (2009) Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer. Bmc Gastroenterology, 9 (79). pp. 1-15. DOI 10.1186/1471-230X-9-79.


Nebel, A., Flachsbart, F., Till, A., Caliebe, A., Blanche, H., Arlt, A., Hasler, R., Jacobs, G., Kleindorp, R., Franke, A., Shen, B., Nikolaus, S., Krawczak, M., Rosenstiel, P. and Schreiber, S. (2009) A functional EXO1 promoter variant is associated with prolonged life expectancy in centenarians. Mechanisms of Ageing and Development, 130 (10). pp. 691-699. DOI 10.1016/j.mad.2009.08.004.

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Nothnagel, M., Ellinghaus, D., Schreiber, S., Krawczak, M. and Franke, A. (2009) A comprehensive evaluation of SNP genotype imputation. Human Genetics, 125 (2). pp. 163-171. DOI 10.1007/s00439-008-0606-5.


Schafmayer, C., Buch, S., Voelzke, H., von Schoenfels, W., Egberts, J. H., Schniewind, B., Brosch, M., Ruether, A., Franke, A., Mathiak, M., Sipos, B., Henopp, T., Catalcali, J., Hellimig, S., ElSharawy, A., Katalinic, A., Lerch, M. M., John, U., Folsch, U. R., Fandrich, F., Kalthoff, H., Schreiber, S., Krawczak, M., Tepel, J. and Hampe, J. (2009) Investigation of the colorectal cancer susceptibility region on chromosome 8q24.21 in a large German case-control sample. International Journal of Cancer, 124 (1). pp. 75-80. DOI 10.1002/ijc.23872.


Siddiqui, R. A., Sauermann, U., Altmuller, J., Fritzer, E., Nothnagel, M., Dalibor, N., Fellay, J., Kaup, F. J., Stahl-Hennig, C., Nurnberg, P., Krawczak, M. and Platzer, M. (2009) X Chromosomal Variation Is Associated with Slow Progression to AIDS in HIV-1-Infected Women. American Journal of Human Genetics, 85 (2). pp. 228-239. DOI 10.1016/j.ajhg.2009.07.013.

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Singh, K. K., Krawczak, M., Dawson, W. W. and Schmidtke, J. (2009) Association of HTRA1 and ARMS2 gene variation with drusen formation in rhesus macaques. Experimental Eye Research, 88 (3). pp. 479-482. DOI 10.1016/j.exer.2008.10.019.


Wolf, A., Millar, D. S., Caliebe, A., Horan, M., Newsway, V., Kumpf, D., Steinmann, K., Chee, I. S., Lee, Y. H., Mutirangura, A., Pepe, G., Rickards, O., Schmidtke, J., Schempp, W., Chuzhanova, N., Kehrer-Sawatzki, H., Krawczak, M. and Cooper, D. N. (2009) A Gene Conversion Hotspot in the Human Growth Hormone (GH1) Gene Promoter. Human Mutation, 30 (2). pp. 239-247.

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Kirsch, S., Pasantes, J., Wolf, A., Bogdanova, N., Münch, C., Pennekamp, P., Krawczak, M., Dworniczak, B. and Schempp, W. (2008) Chromosomal evolution of the PKD1 gene family in primates. Open Access BMC Evolutionary Biology, 8 (1). p. 263. DOI 10.1186/1471-2148-8-263.


Millar, D. S., Lewis, M. D., Horan, M., Newsway, V., Rees, D. A., Easter, T. E., Pepe, G., Rickards, O., Norin, M., Scanlon, M. F., Krawczak, M. and Cooper, D. N. (2008) Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population. Molecular and Cellular Endocrinology, 296 (1-2). pp. 18-25. DOI 10.1016/j.mce.2008.09.023.

This list was generated on Mon Oct 14 21:53:20 2019 CEST.