Universität zu Köln

Journal Article

Abdallah, Ali T., Fischer, Matthias, Nuernberg, Peter, Nothnagel, Michael ORCID: 0000-0001-8305-7114 and Frommolt, Peter ORCID: 0000-0002-1966-8014 (2015). CoNCoS: Copy number estimation in cancer with controlled support. J. Bioinform. Comput. Biol., 13 (5). LONDON: IMPERIAL COLLEGE PRESS. ISSN 1757-6334

Adesoji, Oluyomi M., Schulz, Herbert, May, Patrick ORCID: 0000-0001-8698-3770, Krause, Roland ORCID: 0000-0001-9938-7126, Lerche, Holger and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2022). Benchmarking of univariate pleiotropy detection methods applied to epilepsy. Hum. Mutat., 43 (9). S. 1314 - 1333. LONDON: WILEY-HINDAWI. ISSN 1098-1004

Asadollahi, Reza, Strauss, Justin E., Zenker, Martin, Beuing, Oliver ORCID: 0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M., Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula ORCID: 0000-0001-8122-1427, Ekici, Arif B., Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T. and Rauch, Anita ORCID: 0000-0003-2930-3163 (2018). Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. Eur. J. Hum. Genet., 26 (2). S. 197 - 210. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Becker, Kerstin, Siegert, Sabine, Toliat, Mohammad Reza, Du, Juanjiangmeng, Casper, Ramona, Dolmans, Guido H., Werker, Paul M., Tinschert, Sigrid, Franke, Andre ORCID: 0000-0003-1530-5811, Gieger, Christian ORCID: 0000-0001-6986-9554, Strauch, Konstantin, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Nuernberg, Peter and Hennies, Hans Christian (2016). Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease. PLoS One, 11 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Bobbili, Dheeraj R., Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Jurkowski, Wiktor, Feucht, Martha, Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Krause, Roland ORCID: 0000-0001-9938-7126, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz ORCID: 0000-0002-6998-5480, Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Lal, Dennis, Nrnberg, Peter, Sander, Thomas, Thiele, Holger, Krause, Roland ORCID: 0000-0001-9938-7126, May, Patrick ORCID: 0000-0001-8698-3770, Balling, Rudi ORCID: 0000-0003-2902-5650, Lerche, Holger and Neubauer, Bernd A. (2018). Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. Eur. J. Hum. Genet., 26 (2). S. 258 - 265. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Brunger, Tobias, Perez-Palma, Eduardo, Montanucci, Ludovica, Nothnagel, Michael, Moller, Rikke S., Schorge, Stephanie ORCID: 0000-0003-1541-5148, Zuberi, Sameer ORCID: 0000-0002-4489-4697, Symonds, Joseph ORCID: 0000-0002-2141-4216, Lemke, Johannes R., Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Traynelis, Stephen F., May, Patrick ORCID: 0000-0001-8698-3770 and Lal, Dennis (2023). Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain, 146 (3). S. 923 - 935. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Buch, Stephan, Stickel, Felix, Trepo, Eric ORCID: 0000-0003-0475-3934, Way, Michael ORCID: 0000-0001-7750-5857, Herrmann, Alexander, Nischalke, Hans Dieter ORCID: 0000-0002-3457-0023, Brosch, Mario ORCID: 0000-0001-8983-6557, Rosendahl, Jonas, Berg, Thomas, Ridinger, Monika, Rietschel, Marcella, McQuillin, Andrew ORCID: 0000-0003-1567-2240, Frank, Josef, Kiefer, Falk, Schreiber, Stefan, Lieb, Wolfgang, Soyka, Michael, Semmo, Nasser, Aigner, Elmar, Datz, Christian, Schmelz, Renate, Brueckner, Stefan, Zeissig, Sebastian ORCID: 0000-0001-5124-0897, Stephan, Anna-Magdalena, Wodarz, Norbert, Deviere, Jacques, Clumeck, Nicolas, Sarrazin, Christoph, Lammert, Frank, Gustot, Thierry ORCID: 0000-0002-5537-9607, Deltenre, Pierre, Voelzke, Henry, Lerch, Markus M. ORCID: 0000-0002-9643-8263, Mayerle, Julia ORCID: 0000-0002-3666-6459, Eyer, Florian ORCID: 0000-0002-4753-2747, Schafmayer, Clemens, Cichon, Sven, Noethen, Markus M., Nothnagel, Michael ORCID: 0000-0001-8305-7114, Ellinghaus, David ORCID: 0000-0002-4332-6110, Huse, Klaus ORCID: 0000-0003-3854-1884, Franke, Andre ORCID: 0000-0003-1530-5811, Zopf, Steffen, Hellerbrand, Claus, Moreno, Christophe, Franchimont, Denis, Morgan, Marsha Y. and Hampe, Jochen ORCID: 0000-0002-2421-6127 (2015). A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis. Nature Genet., 47 (12). S. 1443 - 1451. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Caliebe, Amke and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2020). Special issue on 'Genetic epidemiology of complex diseases: impact of population history and modelling assumptions'. Hum. Genet., 139 (1). S. 1 - 4. NEW YORK: SPRINGER. ISSN 1432-1203

Chen, Yan ORCID: 0000-0002-6873-8648, Branicki, Wojciech ORCID: 0000-0002-7412-5733, Walsh, Susan ORCID: 0000-0002-7064-1589, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Kayser, Manfred and Liu, Fan (2021). The impact of correlations between pigmentation phenotypes and underlying genotypes on genetic prediction of pigmentation traits. Forensic Sci. Int.-Genet., 50. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

Crispatzu, Giuliano, Schrader, Alexandra, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Herling, Marco and Herling, Carmen Diana (2016). A Critical Evaluation of Analytic Aspects of Gene Expression Profiling in Lymphoid Leukemias with Broad Applications to Cancer Genomics. AIMS Med. Sci., 3 (3). S. 248 - 272. SPRINGFIELD: AMER INST MATHEMATICAL SCIENCES-AIMS. ISSN 2375-1576

Diegoli, Toni Marie, Rohde, Heinrich, Borowski, Stefan, Krawczak, Michael ORCID: 0000-0003-2603-1502, Coble, Michael D. and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2016). Genetic mapping of 15 human X chromosomal forensic short tandem repeat (STR) loci by means of multi-core parallelization. Forensic Sci. Int.-Genet., 25. S. 39 - 45. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

Ernst, Corinna, Hahnen, Eric, Engel, Christoph ORCID: 0000-0002-7247-282X, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Weber, Jonas, Schmutzler, Rita K. and Hauke, Jan (2018). Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics. BMC Med. Genomics, 11. LONDON: BIOMED CENTRAL LTD. ISSN 1755-8794

Flachsbart, Friederike, Dose, Janina, Gentschew, Liljana, Geismann, Claudia, Caliebe, Amke, Knecht, Carolin, Nygaard, Marianne ORCID: 0000-0003-0703-2665, Badarinarayan, Nandini, ElSharawy, Abdou, May, Sandra, Luzius, Anne, Torres, Guillermo G., Jentzsch, Marlene, Forster, Michael ORCID: 0000-0001-9927-5124, Haeesler, Robert, Pallauf, Kathrin ORCID: 0000-0002-7223-2738, Lieb, Wolfgang, Derbois, Celine, Galan, Pilar, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Arlt, Alexander ORCID: 0000-0002-6160-1059, Till, Andreas, Krause-Kyora, Ben ORCID: 0000-0001-9435-2872, Rimbach, Gerald ORCID: 0000-0001-7888-4684, Blanche, Helene, Deleuze, Jean-Francois, Christiansen, Lene, Christensen, Kaare ORCID: 0000-0002-5429-5292, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Rosenstiel, Philip ORCID: 0000-0002-9692-8828, Schreiber, Stefan, Franke, Andre, Sebens, Susanne and Nebel, Almut (2017). Identification and characterization of two functional variants in the human longevity gene FOXO3. Nat. Commun., 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Flachsbart, Friederike, Dose, Janina, Gentschew, Liljana, Geismann, Claudia, Caliebe, Amke, Knecht, Carolin, Nygaard, Marianne ORCID: 0000-0003-0703-2665, Badarinarayan, Nandini ORCID: 0000-0002-6944-748X, ElSharawy, Abdou, May, Sandra, Luzius, Anne, Torres, Guillermo G., Jentzsch, Marlene, Forster, Michael ORCID: 0000-0001-9927-5124, Haesler, Robert, Pallauf, Kathrin ORCID: 0000-0002-7223-2738, Lieb, Wolfgang, Derbois, Celine, Galan, Pilar, Drichel, Dmitriy, Arlt, Alexander ORCID: 0000-0002-6160-1059, Till, Andreas, Krause-Kyora, Ben, Rimbach, Gerald ORCID: 0000-0001-7888-4684, Blanche, Helene, Deleuze, Jean-Francois, Christiansen, Lene, Christensen, Kaare ORCID: 0000-0002-5429-5292, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Rosenstiel, Philip ORCID: 0000-0002-9692-8828, Schreiber, Stefan, Franke, Andre, Sebens, Susanne and Nebel, Almut (2018). Identification and characterization of two functional variants in the human longevity gene FOXO3 (vol 8, 2017). Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Frye, Bjorn C., Gaede, Karoline I., Saltini, Cesare, Rossman, Milton D., Monos, Dimitri S., Rosenman, Ken D., Schuler, Christine R., Weston, Ainsley, Wegner, Ralf, Noth, Rainer, Zissel, Gernot, Schreiber, Stefan, Nothnagel, Michael and Mueller-Quernheim, Joachim (2021). Analysis of single nucleotide polymorphisms in chronic beryllium disease. Respir. Res., 22 (1). LONDON: BMC. ISSN 1465-993X

Gardella, Elena ORCID: 0000-0002-7138-6022, Becker, Felicitas, Moller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Thiele, Holger, Altmueller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nuernberg, Peter, Mang, Yuan, Moller, Louise Bakke, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels ORCID: 0000-0003-2304-0112, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sandor ORCID: 0000-0002-6035-6581 and Weber, Yvonne G. (2016). Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation. Ann. Neurol., 79 (3). S. 428 - 437. HOBOKEN: WILEY. ISSN 1531-8249

Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Herold, Christine, Hochfeld, Lara M., Hillmer, Axel M., Nyholt, Dale R., Hecker, Julian, Javed, Asif, Chew, Elaine G. Y., Pechlivanis, Sonali, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Heng, Xiu Ting, del Rosario, Ricardo C. -H., Fier, Heide L., Paus, Ralf, Rueedi, Rico, Galesloot, Tessel E., Moebus, Susanne, Anhalt, Thomas, Prabhakar, Shyam, Li, Rui, Kanoni, Stavroula ORCID: 0000-0002-1691-9615, Papanikolaou, George ORCID: 0000-0002-6755-3633, Kutalik, Zoltan, Deloukas, Panos, Philpott, Michael P., Waeber, Gerard ORCID: 0000-0003-4193-788X, Spector, Tim D., Vollenweider, Peter, Kiemeney, Lambertus A. L. M., Dedoussis, George, Richards, J. Brent, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Martin, Nicholas G., Becker, Tim ORCID: 0000-0002-6573-1109, Hinds, David A. and Noethen, Markus M. (2017). Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness. Nat. Commun., 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Hofmann, Sylvia, Fritzsche, Peter, Dorge, Tsering, Miehe, Georg and Nothnagel, Michael (2021). What Makes a Hot-Spring Habitat Hot for the Hot-Spring Snake: Distributional Data and Niche Modelling for the Genus Thermophis (Serpentes, Colubridae). Diversity-Basel, 13 (7). BASEL: MDPI. ISSN 1424-2818

Hofmann, Sylvia, Kraus, Sabine, Dorge, Tsering, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Fritzsche, Peter and Miehe, Georg (2014). Effects of Pleistocene climatic fluctuations on the phylogeography, demography and population structure of a high-elevation snake species, Thermophis baileyi, on the Tibetan Plateau. J. Biogeogr., 41 (11). S. 2162 - 2173. HOBOKEN: WILEY. ISSN 1365-2699

Ishorst, Nina, Henschel, Leonie, Thieme, Frederic, Drichel, Dmitriy, Sivalingam, Sugirthan, Mehrem, Sarah L., Fechtner, Ariane C., Fazaal, Julia, Welzenbach, Julia, Heimbach, Andre, Maj, Carlo, Borisov, Oleg, Hausen, Jonas, Raff, Ruth, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Dixon, Michael, Rada-Iglesias, Alvaro, Bartusel, Michaela, Rojas-Martinez, Augusto, Aldhorae, Khalid, Braumann, Bert, Kruse, Teresa, Kirschneck, Christian, Spanier, Gerrit, Reutter, Heiko, Nowak, Stefanie, Goelz, Lina, Knapp, Michael, Buness, Andreas, Krawitz, Peter, Noethen, Markus M., Nothnagel, Michael, Becker, Tim, Ludwig, Kerstin U. and Mangold, Elisabeth (2023). Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores. Mol. Genet. Genom. Med., 11 (3). HOBOKEN: WILEY. ISSN 2324-9269

Kanoungi, George and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2017). Impact of Pathway Structures on Allelic Spectra of Diseases. Hum. Hered., 83 (1). S. 19 - 20. BASEL: KARGER. ISSN 1423-0062

Kanoungi, George ORCID: 0000-0002-2452-8526 and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2018). Pathway-induced allelic spectra of diseases in the presence of strong genetic effects. Hum. Genet., 137 (3). S. 215 - 231. NEW YORK: SPRINGER. ISSN 1432-1203

Kanoungi, George ORCID: 0000-0002-2452-8526, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Becker, Tim and Drichel, Dmitriy ORCID: 0000-0001-5978-3458 (2020). The exhaustive genomic scan approach, with an application to rare-variant association analysis. Eur. J. Hum. Genet., 28 (9). S. 1283 - 1292. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Kanoungi, George, Nuernberg, Peter and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2016). Pathway-Induced Allelic Spectra of Diseases. Hum. Hered., 81 (4). S. 232 - 233. BASEL: KARGER. ISSN 1423-0062

Kanoungi, George ORCID: 0000-0002-2452-8526, Nuernberg, Peter and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2017). Securing the use of existing sample collections for future human genetic research. Eur. J. Hum. Genet., 25 (5). S. 522 - 530. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Katsara, Maria -Alexandra, Branicki, Wojciech ORCID: 0000-0002-7412-5733, Pospiech, Ewelina ORCID: 0000-0001-8867-0727, Hysi, Pirro ORCID: 0000-0001-5752-2510, Walsh, Susan ORCID: 0000-0002-7064-1589, Kayser, Manfred and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2021). Testing the impact of trait prevalence priors in Bayesian-based genetic prediction modeling of human appearance traits. Forensic Sci. Int.-Genet., 50. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

Katsara, Maria-Alexandra, Branicki, Wojciech ORCID: 0000-0002-7412-5733, Walsh, Susan ORCID: 0000-0002-7064-1589, Kayser, Manfred and Nothnagel, Michael (2021). Evaluation of supervised machine-learning methods for predicting appearance traits from DNA. Forensic Sci. Int.-Genet., 53. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

Katsara, Maria-Alexandra and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2017). A Literature Review on the Prevalence of Pigmentation Traits. Hum. Hered., 83 (5). S. 236 - 237. BASEL: KARGER. ISSN 1423-0062

Katsara, Maria-Alexandra and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2019). True colors: A literature review on the spatial distribution of eye and hair pigmentation. Forensic Sci. Int.-Genet., 39. S. 109 - 119. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

Koko, Mahmoud ORCID: 0000-0001-9512-0184, Krause, Roland ORCID: 0000-0001-9938-7126, Sander, Thomas, Bobbili, Dheeraj Reddy, Nothnagel, Michael, May, Patrick ORCID: 0000-0001-8698-3770 and Lerche, Holger (2021). Distinct gene-set burden patterns underlie common generalized and focal epilepsies. EBioMedicine, 72. AMSTERDAM: ELSEVIER. ISSN 2352-3964

Krause-Kyora, Ben, Caliebe, Amke, Franke, Andre, Boldsen, Jesper L., Lenz, Tobias L., Nothnagel, Michael ORCID: 0000-0001-8305-7114 and Nebel, Almut (2017). Ancient DNA Study Reveals HLA Susceptibility Locus for Leprosy in Medieval Europeas. Hum. Hered., 83 (1). S. 4 - 5. BASEL: KARGER. ISSN 1423-0062

Krause-Kyora, Ben ORCID: 0000-0001-9435-2872, Nutsua, Marcel, Boehme, Lisa, Pierini, Federica, Pedersen, Dorthe Dangvard ORCID: 0000-0002-4709-9170, Kornell, Sabin-Christin, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Bonazzi, Marion, Moebus, Lena, Tarp, Peter, Susat, Julian, Bosse, Esther, Willburger, Beatrix, Schmidt, Alexander H., Sauter, Juergen, Franke, Andre, Wittig, Michael, Caliebe, Amke, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Schreiber, Stefan, Boldsen, Jesper L., Lenz, Tobias L. and Nebel, Almut (2018). Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval Europeans. Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Lal, Dennis, Neubauer, Bernd A., Toliat, Mohammad R., Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Kamrath, Clemens, Schaenzer, Anne, Sander, Thomas, Hahn, Andreas and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2016). Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS One, 11 (1). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Lipinski, Simone, Petersen, Britt-Sabina, Barann, Matthias, Piecyk, Agnes ORCID: 0000-0002-9582-121X, Tran, Florian, Mayr, Gabriele, Jentzsch, Marlene, Aden, Konrad ORCID: 0000-0003-3482-7316, Stengel, Stephanie T., Klostermeier, Ulrich C., Sheth, Vrunda, Ellinghaus, David, Rausch, Tobias ORCID: 0000-0001-5773-5620, Korbel, Jan O., Nothnagel, Michael ORCID: 0000-0001-8305-7114, Krawczak, Michael ORCID: 0000-0003-2603-1502, Gilissen, Christian ORCID: 0000-0003-1693-9699, Veltman, Joris A., Forster, Michael ORCID: 0000-0001-9927-5124, Forster, Peter, Lee, Clarence C., Fritscher-Ravens, Annette, Schreiber, Stefan, Franke, Andre and Rosenstiel, Philip ORCID: 0000-0002-9692-8828 (2019). Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2. Cold Spring Harb. Mol. Case Stud., 5 (1). COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 2373-2873

May, Patrick ORCID: 0000-0001-8698-3770, Girard, Simon ORCID: 0000-0002-4089-2280, Harrer, Merle, Bobbili, Dheeraj R., Schubert, Julian, Wolking, Stefan ORCID: 0000-0002-1460-6623, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E., Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-Lopez, Rosa, Baulac, Stephanie ORCID: 0000-0001-6430-4693, Marini, Carla, Thiele, Holger, Altmueller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestele, Sandrine ORCID: 0000-0002-5982-1562, Terragni, Benedetta, Coombs, Ian D., Reid, Christopher A., Striano, Pasquale ORCID: 0000-0002-6065-1476, Caglayan, Hande, Siren, Auli, Everett, Kate ORCID: 0000-0001-6700-1698, Moller, Rikke S., Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Weber, Yvonne G., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Sisodiya, Sanjay M., Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S., Trenite, Dorothee Kasteleijn-Nolst, Baykan, Betul, Ozbek, Ugur ORCID: 0000-0001-5319-0547, Bebek, Nerses, Klein, Karl M., Rosenow, Felix, Nguyen, Dang K., Dubeau, Francois, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clement, Jean-Francois, Cieuta-Walti, Cecile, Sills, Graeme J., Auce, Pauls, Francis, Ben, Johnson, Michael R., Marson, Anthony G., Berghuis, Bianca, Sander, Josemir W., Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Krenn, Martin ORCID: 0000-0003-3026-3082, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi ORCID: 0000-0003-2902-5650, Ikram, M. Arfan, Uitterlinden, Andre G., Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven ORCID: 0000-0002-4960-6375, Mantegazza, Massimo ORCID: 0000-0002-1070-7929, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M., Koeleman, Bobby P. C., Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Nuernberg, Peter, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Zara, Federico, Cossette, Patrick, Krause, Roland ORCID: 0000-0001-9938-7126 and Lerche, Holger (2018). Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol., 17 (8). S. 699 - 709. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1474-4465

Mehrjoo, Zohreh, Fattahi, Zohreh, Beheshtian, Maryam, Gossmann, Yasmina, Helwing, Barbara, Niestroj, Lisa-Marie, Toliat, Mohammad Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2017). Distinct Human Genetic Variation in Iran. Hum. Hered., 83 (5). S. 241 - 242. BASEL: KARGER. ISSN 1423-0062

Mehrjoo, Zohreh ORCID: 0000-0003-3296-6283, Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Poustchi, Hossein, Ardalani, Fariba, Jalalvand, Khadijeh, Arzhangi, Sanaz, Mohammadi, Zahra, Khoshbakht, Shahrouz, Najafi, Farid, Nikuei, Pooneh, Haddadi, Mohammad, Zohrehvand, Elham, Oladnabi, Morteza, Mohammadzadeh, Akbar, Jafari, Mandana Hadi, Akhtarkhavari, Tara, Gooshki, Ehsan Shamsi, Haghdoost, Aliakbar, Najafipour, Reza, Niestroj, Lisa-Marie, Helwing, Barbara ORCID: 0000-0001-9226-1053, Gossmann, Yasmina, Toliat, Mohammad Reza, Malekzadeh, Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2019). Distinct genetic variation and heterogeneity of the Iranian population. PLoS Genet., 15 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Mohseni, Marzieh, Babanejad, Mojgan ORCID: 0000-0003-2532-4303, Booth, Kevin T., Jamali, Payman, Jalalvand, Khadijeh, Davarnia, Behzad, Ardalani, Fariba, Khoshaeen, Atefeh, Arzhangi, Sanaz, Ghodratpour, Fatemeh, Beheshtian, Maryam, Jahanshad, Faezeh, Otukesh, Hasan, Bahrami, Fatemeh, Seifati, Seyed Morteza, Bazazzadegan, Niloofar ORCID: 0000-0002-5455-272X, Habibi, Farkhonde, Behravan, Hanieh, Mirzaei, Sepide, Keshavarzi, Fatemeh, Nikzat, Nooshin, Mehrjoo, Zohreh, Thiele, Holger, Nothnagel, Michael, Azaiez, Hela ORCID: 0000-0002-2863-6970, Smith, Richard J., Kahrizi, Kimia and Najmabadi, Hossein (2021). Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran. Clin. Genet., 100 (1). S. 59 - 79. HOBOKEN: WILEY. ISSN 1399-0004

Ng, Michael, Thakkar, Dipti, Southam, Lorraine, Werker, Paul, Ophoff, Roel, Becker, Kerstin, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Franke, Andre ORCID: 0000-0003-1530-5811, Nuernberg, Peter, Espirito-Santo, Ana Isabel, Izadi, David, Hennies, Hans Christian, Nanchahal, Jagdeep, Zeggini, Eleftheria and Furniss, Dominic (2017). A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. Am. J. Hum. Genet., 101 (3). S. 417 - 428. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Niestroj, Lisa-Marie, Du, Juanjiangmeng, Nothnagel, Michael ORCID: 0000-0001-8305-7114, May, Patrick ORCID: 0000-0001-8698-3770, Palotie, Aarno, Daly, Mark J., Nuernberg, Peter, Bluemcke, Ingmar and Lal, Dennis (2018). Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia, 59 (11). S. 2145 - 2153. HOBOKEN: WILEY. ISSN 1528-1167

Nothnagel, Michael (2022). Heterogeneity in Statistical Genetics: How to Assess, Address, and Account for Mixtures in Association Studies. Biom. J., 64 (1). S. 186 - 188. HOBOKEN: WILEY. ISSN 1521-4036

Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2020). Towards a fine-scale picture of European genetic diversity. Eur. J. Hum. Genet., 28 (7). S. 851 - 853. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Nothnagel, Michael ORCID: 0000-0001-8305-7114, Fan, Guangyao, Guo, Fei, He, Yongfeng, Hou, Yiping, Hu, Shengping, Huang, Jiang, Jiang, Xianhua, Kim, Wook, Kim, Kicheol, Li, Chengtao, Li, Hui, Li, Liming, Li, Shilin, Li, Zhao, Liang, Weibo, Liu, Chao, Lu, Di, Luo, Haibo, Nie, Shengjie, Shi, Meisen, Sun, Hongyu, Tang, Jianpin, Wang, Lei, Wang, Chuan-Chao, Wang, Dan, Wen, Shao-Qing, Wu, Hongyan, Wu, Weiwei, Xing, Jiaxin, Yan, Jiangwei, Yan, Shi, Yao, Hongbing, Ye, Yi, Yun, Libing, Zeng, Zhaoshu, Zha, Lagabaiyila, Zhang, Suhua, Zheng, Xiufen, Willuweit, Sascha and Roewer, Lutz (2022). RETRACTION: Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes (Retraction of Vol 136, Pg 485, 2017). Hum. Genet., 141 (1). S. 175 - 177. NEW YORK: SPRINGER. ISSN 1432-1203

Nothnagel, Michael ORCID: 0000-0001-8305-7114, Fan, Guangyao, Guo, Fei, He, Yongfeng, Hou, Yiping ORCID: 0000-0003-4254-2388, Hu, Shengping, Huang, Jiang, Jiang, Xianhua, Kim, Wook, Kim, Kicheol ORCID: 0000-0003-3667-9900, Li, Chengtao, Li, Hui, Li, Liming, Li, Shilin, Li, Zhao, Liang, Weibo, Liu, Chao, Lu, Di, Luo, Haibo, Nie, Shengjie, Shi, Meisen, Sun, Hongyu, Tang, Jianpin, Wang, Lei, Wang, Chuan-Chao ORCID: 0000-0001-9628-0307, Wang, Dan, Wen, Shao-Qing, Wu, Hongyan, Wu, Weiwei, Xing, Jiaxin, Yan, Jiangwei, Yan, Shi, Yao, Hongbing, Ye, Yi, Yun, Libing, Zeng, Zhaoshu, Zha, Lagabaiyila, Zhang, Suhua, Zheng, Xiufen, Willuweit, Sascha ORCID: 0000-0003-1844-8375 and Roewer, Lutz ORCID: 0000-0001-9383-4941 (2017). Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes. Hum. Genet., 136 (5). S. 485 - 498. NEW YORK: SPRINGER. ISSN 1432-1203

Nothnagel, Michael ORCID: 0000-0001-8305-7114, Willuweit, Sascha and Roewer, Lutz (2016). Revisiting the Male Genetic Landscape of China. Hum. Hered., 81 (4). S. 225 - 226. BASEL: KARGER. ISSN 1423-0062

Nutsua, Marcel Elie, Fischer, Annegret, Nebel, Almut, Hofmann, Sylvia, Schreiber, Stefan, Krawczak, Michael ORCID: 0000-0003-2603-1502 and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2015). Family-Based Benchmarking of Copy Number Variation Detection Software. PLoS One, 10 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Purps, Josephine, Siegert, Sabine, Willuweit, Sascha ORCID: 0000-0003-1844-8375, Nagy, Marion, Alves, Cintia, Salazar, Renato ORCID: 0000-0001-8436-9304, Angustia, Sheila M. T., Santos, Lorna H., Anslinger, Katja, Bayer, Birgit, Ayub, Qasim ORCID: 0000-0003-3291-0917, Wei, Wei, Xue, Yali, Tyler-Smith, Chris, Bafalluy, Miriam Baeta, Martinez-Jarreta, Begona, Egyed, Balazs ORCID: 0000-0003-3960-2052, Balitzki, Beate, Tschumi, Sibylle, Ballard, David, Court, Denise Syndercombe, Barrantes, Xinia, Bassler, Gerhard, Wiest, Tina, Berger, Burkhard, Niederstaetter, Harald, Parson, Walther ORCID: 0000-0002-5692-2392, Davis, Carey, Budowle, Bruce ORCID: 0000-0003-4116-2930, Burri, Helen, Borer, Urs, Koller, Christoph, Carvalho, Elizeu F., Domingues, Patricia M., Chamoun, Wafaa Takash, Coble, Michael D., Hill, Carolyn R., Corach, Daniel, Caputo, Mariela, D'Amato, Maria E., Davison, Sean, Decorte, Ronny, Larmuseau, Maarten H. D., Ottoni, Claudio ORCID: 0000-0001-8870-1589, Rickards, Olga ORCID: 0000-0003-2880-7466, Lu, Di, Jiang, Chengtao, Dobosz, Tadeusz ORCID: 0000-0003-0413-9109, Jonkisz, Anna, Frank, William E., Furac, Ivana, Gehrig, Christian, Castella, Vincent ORCID: 0000-0001-9029-1945, Grskovic, Branka, Haas, Cordula ORCID: 0000-0001-8122-1427, Wobst, Jana, Hadzic, Gavrilo, Drobnic, Katja, Honda, Katsuya, Hou, Yiping ORCID: 0000-0003-4254-2388, Zhou, Di, Li, Yan, Hu, Shengping, Chen, Shenglan, Immel, Uta-Dorothee, Lessig, Rudiger, Jakovski, Zlatko, Ilievska, Tanja, Klann, Anja E., Garcia, Cristina Cano, de Knijff, Peter ORCID: 0000-0002-0899-771X, Kraaijenbrink, Thirsa ORCID: 0000-0002-1771-8401, Kondili, Aikaterini, Miniati, Penelope, Vouropoulou, Maria, Kovacevic, Lejla, Marjanovic, Damir ORCID: 0000-0002-7472-4525, Lindner, Iris, Mansour, Issam, Al-Azem, Mouayyad, El Andari, Ansar, Marino, Miguel, Furfuro, Sandra, Locarno, Laura, Martin, Pablo, Luque, Gracia M., Alonso, Antonio, Miranda, Luis Souto, Moreira, Helena, Mizuno, Natsuko, Iwashima, Yasuki, Moura Neto, Rodrigo S., Nogueira, Tatiana L. S., Silva, Rosane ORCID: 0000-0002-2998-6999, Nastainczyk-Wulf, Marina, Edelmann, Jeanett, Kohl, Michael, Nie, Shengjie, Wang, Xianping, Cheng, Baowen, Nunez, Carolina ORCID: 0000-0001-5643-3970, Martinez de Pancorbo, Marian, Olofsson, Jill K., Morling, Niels ORCID: 0000-0002-9463-5087, Onofri, Valerio ORCID: 0000-0002-1294-1444, Tagliabracci, Adriano ORCID: 0000-0002-4434-0475, Pamjav, Horolma, Volgyi, Antonia, Barany, Gusztav, Pawlowski, Ryszard, Maciejewska, Agnieszka, Pelotti, Susi, Pepinski, Witold ORCID: 0000-0003-1244-2247, Abreu-Glowacka, Monica, Phillips, Christopher ORCID: 0000-0002-9601-0128, Cardenas, Jorge, Rey-Gonzalez, Danel, Salas, Antonio ORCID: 0000-0002-2336-702X, Brisighelli, Francesca ORCID: 0000-0001-5469-4413, Capelli, Cristian ORCID: 0000-0001-9348-9084, Toscanini, Ulises, Piccinini, Andrea ORCID: 0000-0001-8017-7065, Piglionica, Marilidia, Baldassarra, Stefania L., Ploski, Rafal ORCID: 0000-0001-6286-5526, Konarzewska, Magdalena ORCID: 0000-0003-0124-0535, Jastrzebska, Emila, Robino, Carlo ORCID: 0000-0003-1187-7732, Sajantila, Antti ORCID: 0000-0003-4117-5248, Palo, Jukka U., Guevara, Evelyn ORCID: 0000-0001-5174-1376, Salvador, Jazelyn, Corazon De Ungria, Maria, Russell Rodriguez, Jae Joseph, Schmidt, Ulrike, Schlauderer, Nicola, Saukko, Pekka, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Sirker, Miriam ORCID: 0000-0003-2979-4257, Shin, Kyoung-Jin, Oh, Yu Na, Skitsa, Iulia, Ampati, Alexandra, Smith, Tobi-Gail, de Calvit, Lina Solis, Stenzl, Vlastimil, Capal, Thomas, Tillmar, Andreas, Nilsson, Helena, Turrina, Stefania ORCID: 0000-0003-3402-1996, De Leo, Domenico ORCID: 0000-0001-7399-311X, Verzeletti, Andrea ORCID: 0000-0001-6085-3249, Cortellini, Venusia, Wetton, Jon H., Gwynne, Gareth M., Jobling, Mark A., Whittle, Martin R., Sumita, Denilce R., Wolanska-Nowak, Paulina, Yong, Rita Y. Y., Krawczak, Michael ORCID: 0000-0003-2603-1502, Nothnagel, Michael ORCID: 0000-0001-8305-7114 and Roewer, Lutz ORCID: 0000-0001-9383-4941 (2014). A global analysis of Y-chromosomal haplotype diversity for 23 STR loci. Forensic Sci. Int.-Genet., 12. S. 12 - 24. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

Quach, Bryan C., Bray, Michael J., Gaddis, Nathan C., Liu, Mengzhen, Palviainen, Teemu ORCID: 0000-0002-7847-8384, Minica, Camelia C., Zellers, Stephanie, Sherva, Richard, Aliev, Fazil ORCID: 0000-0001-8357-4699, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Young, Kendra A., Marks, Jesse A., Young, Hannah, Carnes, Megan U., Guo, Yuelong, Waldrop, Alex, Sey, Nancy Y. A., Landi, Maria T., McNeil, Daniel W., Drichel, Dmitriy, Farrer, Lindsay A., Markunas, Christina A., Vink, Jacqueline M., Hottenga, Jouke-Jan, Iacono, William G., Kranzler, Henry R., Saccone, Nancy L., Neale, Michael C., Madden, Pamela, Rietschel, Marcella, Marazita, Mary L., McGue, Matthew, Won, Hyejung, Winterer, Georg, Grucza, Richard, Dick, Danielle M., Gelernter, Joel, Caporaso, Neil E., Baker, Timothy B., Boomsma, Dorret I., Kaprio, Jaakko ORCID: 0000-0002-3716-2455, Hokanson, John E., Vrieze, Scott, Bierut, Laura J., Johnson, Eric O. and Hancock, Dana B. (2020). Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits. Nat. Commun., 11 (1). BERLIN: NATURE RESEARCH. ISSN 2041-1723

Seemanova, Eva, Varon, Raymonda, Vejvalka, Jan, Jarolim, Petr ORCID: 0000-0002-9612-8652, Seeman, Pavel, Chrzanowska, Krystyna H., Digweed, Martin, Resnick, Igor, Kremensky, Ivo, Saar, Kathrin ORCID: 0000-0002-4483-1557, Hoffmann, Katrin, Dutrannoy, Veronique, Karbasiyan, Mohsen, Ghani, Mehdi, Baric, Ivo, Tekin, Mustafa ORCID: 0000-0002-3525-7960, Kovacs, Peter, Krawczak, Michael ORCID: 0000-0003-2603-1502, Reis, Andre ORCID: 0000-0002-6301-6363, Sperling, Karl and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2016). The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? PLoS One, 11 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Siegert, Sabine, Roewer, Lutz ORCID: 0000-0001-9383-4941 and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2015). Shannon's equivocation for forensic Y-STR marker selection. Forensic Sci. Int.-Genet., 16. S. 216 - 226. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

Siegert, Sabine, Roewer, Lutz ORCID: 0000-0001-9383-4941 and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2015). Shannon's equivocation for forensic Y-STR marker selection. Forensic Sci. Int.-Genet., 16. S. 216 - 226. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

Siegert, Sabine, Wolf, Andreas, Cooper, David N., Krawczak, Michael ORCID: 0000-0003-2603-1502 and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2015). Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense. PLoS One, 10 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Siegert, Sabine, Yu, Zhonghao, Wang-Sattler, Rui ORCID: 0000-0002-8794-8229, Illig, Thomas, Adamski, Jerzy ORCID: 0000-0001-9259-0199, Hampe, Jochen ORCID: 0000-0002-2421-6127, Nikolaus, Susanna, Schreiber, Stefan, Krawczak, Michael ORCID: 0000-0003-2603-1502, Nothnagel, Michael ORCID: 0000-0001-8305-7114 and Noethlings, Ute (2013). Diagnosing Fatty Liver Disease: A Comparative Evaluation of Metabolic Markers, Phenotypes, Genotypes and Established Biomarkers. PLoS One, 8 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Strathmann, Eike A., Peters, Miriam, Hosseinibarkooie, Seyyedmohsen, Rigo, Frank W., Bennett, C. Frank, Zaworski, Phillip G., Chen, Karen S., Nothnagel, Michael ORCID: 0000-0001-8305-7114 and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice. PLoS One, 13 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Strnad, Pavel, Buch, Stephan, Hamesch, Karim ORCID: 0000-0002-1702-2746, Fischer, Janett, Rosendahl, Jonas, Schmelz, Renate, Brueckner, Stefan, Brosch, Mario, Heimes, Carolin V., Woditsch, Vivien, Scholten, David, Nischalke, Hans Dieter, Janciauskiene, Sabina, Mandorfer, Mattias ORCID: 0000-0003-2330-0017, Trauner, Michael ORCID: 0000-0002-1275-6425, Way, Michael J., McQuillin, Andrew ORCID: 0000-0003-1567-2240, Reichert, Matthias C., Krawczyk, Marcin ORCID: 0000-0002-0113-0777, Casper, Markus, Lammert, Frank, von Schoenfels, Witigo, Hinz, Sebastian, Burmeister, Greta, Hellerbrand, Claus, Teufel, Andreas, Feldman, Alexandra, Schattenberg, Joern M., Bantel, Heike, Pathil, Anita, Demir, Muenevver, Kluwe, Johannes, Boettler, Tobias ORCID: 0000-0002-1195-055X, Ridinger, Monika, Wodarz, Norbert, Soyka, Michael, Rietschel, Marcella, Kiefer, Falk, Weber, Thomas, Marhenke, Silke, Vogel, Arndt, Hinrichsen, Holger, Canbay, Ali ORCID: 0000-0001-6069-7899, Schlattjan, Martin, Sosnowsky, Katharina, Sarrazin, Christoph, von Felden, Johann, Geier, Andreas, Deltenre, Pierre, Sipos, Bence, Schafmayer, Clemens, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Aigner, Elmar, Datz, Christian, Stickel, Felix, Morgan, Marsha Yvonne, Hampe, Jochen ORCID: 0000-0002-2421-6127, Berg, Thomas and Trautwein, Christian (2019). Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis. Gut, 68 (6). S. 1099 - 1108. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-3288

Syrbe, Steffen, Hedrich, Ulrike B. S., Riesch, Erik, Djemie, Tania, Mueller, Stephan, Moller, Rikke S., Maher, Bridget ORCID: 0000-0002-9735-0845, Hernandez-Hernandez, Laura, Synofzik, Matthis ORCID: 0000-0002-2280-7273, Caglayan, Hande S., Arslan, Mutluay, Serratosa, Jose M., Nothnagel, Michael ORCID: 0000-0001-8305-7114, May, Patrick ORCID: 0000-0001-8698-3770, Krause, Roland ORCID: 0000-0001-9938-7126, Loeffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Kraemer, Guenter, Schoels, Ludger, Mullis, Primus E., Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C., Hoffman-Zacharska, Dorota ORCID: 0000-0001-7367-512X, Korff, Christian M., Weber, Yvonne G., Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid ORCID: 0000-0003-2832-0156, Bernhard, Matthias K., Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Zuechner, Stephan, Palotie, Aarno, Suls, Arvid ORCID: 0000-0003-0328-198X, De Jonghe, Peter, Helbig, Ingo ORCID: 0000-0001-8486-0558, Biskup, Saskia, Wolff, Markus ORCID: 0000-0001-5640-0888, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Schule, Rebecca ORCID: 0000-0002-7781-2766, Sisodiya, Sanjay M., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Lerche, Holger and Lemke, Johannes R. (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature Genet., 47 (4). S. 393 - 402. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Syrbe, Steffen, Hedrich, Ulrike B. S., Riesch, Erik, Djemie, Tania, Mueller, Stephan, Moller, Rikke S., Maher, Bridget ORCID: 0000-0002-9735-0845, Hernandez-Hernandez, Laura, Synofzik, Matthis ORCID: 0000-0002-2280-7273, Caglayan, Hande S., Arslan, Mutluay, Serratosa, Jose M., Nothnagel, Michael ORCID: 0000-0001-8305-7114, May, Patrick ORCID: 0000-0001-8698-3770, Krause, Roland ORCID: 0000-0001-9938-7126, Loeffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Kraemer, Guenter, Schoels, Ludger, Mullis, Primus E., Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C., Hoffman-Zacharska, Dorota ORCID: 0000-0001-7367-512X, Korff, Christian M., Weber, Yvonne G., Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid ORCID: 0000-0003-2832-0156, Bernhard, Matthias K., Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Zuechner, Stephan, Palotie, Aarno, Suls, Arvid ORCID: 0000-0003-0328-198X, De Jonghe, Peter, Helbig, Ingo ORCID: 0000-0001-8486-0558, Biskup, Saskia, Wolff, Markus ORCID: 0000-0001-5640-0888, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Schule, Rebecca ORCID: 0000-0002-7781-2766, Sisodiya, Sanjay M., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Lerche, Holger and Lemke, Johannes R. (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature Genet., 47 (4). S. 393 - 402. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Villaescusa, Patricia ORCID: 0000-0001-6010-0343, Seidel, Maria, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Pinotti, Thomaz, Gonzalez-Andrade, Fabricio, Alvarez-Gila, Oscar, de Pancorbo, Marian M. and Roewer, Lutz ORCID: 0000-0001-9383-4941 (2021). A Y-chromosomal survey of Ecuador 's multi-ethnic population reveals new insights into the tri-partite population structure and supports an early Holocene age of the rare Native American founder lineage C3-MPB373. Forensic Sci. Int.-Genet., 51. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

Zhao, Linhai, He, Zongxiao, Zhang, Di, Wang, Gao T., Renton, Alan E., Vardarajan, Badri N., Nothnagel, Michael ORCID: 0000-0001-8305-7114, Goate, Alison M., Mayeux, Richard and Leal, Suzanne M. (2019). A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data. Am. J. Hum. Genet., 105 (4). S. 822 - 836. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

de la Puente, Maria, Ruiz-Ramirez, Jorge ORCID: 0000-0002-7859-916X, Ambroa-Conde, Adrian, Xavier, Catarina, Pardo-Seco, Jacobo ORCID: 0000-0002-8059-8908, Alvarez-Dios, Jose, Freire-Aradas, Ana ORCID: 0000-0002-8135-5182, Mosquera-Miguel, Ana, Gross, Theresa E., Cheung, Elaine Y. Y., Branicki, Wojciech, Nothnagel, Michael, Parson, Walther ORCID: 0000-0002-5692-2392, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Kayser, Manfred, Carracedo, Angel ORCID: 0000-0003-1085-8986, Lareu, Maria Victoria and Phillips, Christopher (2021). Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool. Genes, 12 (8). BASEL: MDPI. ISSN 2073-4425