Recent publications
2021
Genome sequencing in families with congenital limb malformations
Elsner, J, Mensah, MA, Holtgrewe, M, Hertzberg, J, Bigoni, S, Busche, A, Coutelier, M, de Silva, DC, Elçioglu, N, Filges, I, Gerkes, E, Girisha, KM, Graul-Neumann, L, Jamsheer, A, Krawitz, P, Kurth, I, Markus, S, Megarbane, A, Reis, A, Reuter, MS, Svoboda, D, Teller, C, Tuysuz, B, Türkmen, S, Wilson, M, Woitschach, R, Vater, I, Caliebe, A, Hülsemann, W, Horn, D, Mundlos, S, and Spielmann, M (2021).
Human Genetics, 140(8):1229--1239.
DeepCNV: a deep learning approach for authenticating copy number variations
Glessner, JT, Hou, X, Zhong, C, Zhang, J, Khan, M, Brand, F, Krawitz, P, Sleiman, PMA, Hakonarson, H, and Wei, Z (2021).
Briefings in Bioinformatics, 22(5).
Assessing the role of polygenic background on the penetrance of monogenic forms in Parkinson ' s disease Introduction :
Hassanin, E, May, P, Aldisi, R, Krawitz, P, and Maj, C (2021).
medrxiv.
Breast and prostate cancer risk : the interplay of polygenic risk , high-impact monogenic variants , and family history
Hassanin, E, May, P, Aldisi, R, Spier, I, Forstner, AJ, Nöthen, M, Aretz, S, Krawitz, P, Bobbili, DR, and Maj, C (2021).
medrxiv.
Iron Deficiency Caused by Intestinal Iron Loss—Novel Candidate Genes for Severe Anemia
Huettmann, C, Stelljes, M, Sivalingam, S, Fobker, M, Vrachimis, A, Exler, A, Wenning, C, Wempe, C, Penke, M, Buness, A, Ludwig, KU, Muckenthaler, MU, and Steinbicker, AU (2021).
Genetic Research of Iron Homeostasis and Related Diseases
Multimodal Machine Learning Workflows for Prediction of Psychosis in Patients With Clinical High-Risk Syndromes and Recent-Onset Depression
Koutsouleris, N, Dwyer, DB, Degenhardt, F, Maj, C, Urquijo-Castro, MF, Sanfelici, R, Popovic, D, Oeztuerk, O, Haas, SS, Weiske, J, Ruef, A, Kambeitz-Ilankovic, L, Antonucci, LA, Neufang, S, Schmidt-Kraepelin, C, Ruhrmann, S, Penzel, N, Kambeitz, J, Haidl, TK, Rosen, M, Chisholm, K, Riecher-Rössler, A, Egloff, L, Schmidt, A, Andreou, C, Hietala, J, Schirmer, T, Romer, G, Walger, P, Franscini, M, Traber-Walker, N, Schimmelmann, BG, Flückiger, R, Michel, C, Rössler, W, Borisov, O, Krawitz, PM, Heekeren, K, Buechler, R, Pantelis, C, Falkai, P, Salokangas, RKR, Lencer, R, Bertolino, A, Borgwardt, S, Noethen, M, Brambilla, P, Wood, SJ, Upthegrove, R, Schultze-Lutter, F, Theodoridou, A, Meisenzahl, E, and Consortium, PRONIA (2021).
JAMA Psychiatry, 78(2):195--209.
Knowledge transfer to enhance the performance of deep learning models for automated classification of B cell neoplasms
Mallesh, N, Zhao, M, Meintker, L, Höllein, A, Elsner, F, Lüling, H, Haferlach, T, Kern, W, Westermann, J, Brossart, P, Krause, SW, and Krawitz, PM (2021).
Patterns:100351.
CADA: Phenotype-driven gene prioritization based on a case-enriched knowledge graph
Peng, C, Dieck, S, Schmid, A, Ahmad, A, Knaus, A, Wenzel, M, Mehnert, L, Zirn, B, Haack, T, Ossowski, S, Wagner, M, Brunet, T, Ehmke, N, Danyel, M, Rosnev, S, Kamphans, T, Nadav, G, Fleischer, N, Fröhlich, H, and Krawitz, P (2021).
Nature Genetics.
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis
Perne, C, Peters, S, Cartolano, M, Horpaopan, S, Grimm, C, Altmüller, J, Sommer, AK, Hillmer, AM, Thiele, H, Odenthal, M, Möslein, G, Adam, R, Sivalingam, S, Kirfel, J, Schweiger, MR, Peifer, M, Spier, I, and Aretz, S (2021).
PLOS ONE, 16(11):e0259185.
A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions
Rodríguez de los Santos, M, Rivalan, M, David, FS, Stumpf, A, Pitsch, J, Tsortouktzidis, D, Velasquez, LM, Voigt, A, Schilling, K, Mattei, D, Long, M, Vogt, G, Knaus, A, Fischer-Zirnsak, B, Wittler, L, Timmermann, B, Robinson, PN, Horn, D, Mundlos, S, Kornak, U, Becker, AJ, Schmitz, D, Winter, Y, and Krawitz, PM (2021).
Proceedings of the National Academy of Sciences, 118(2).
Tumor rejection in Cblb-/- mice depends on IL-9 and Th9 cells
Schanz, O, Cornez, I, Yajnanarayana, SP, David, FS, Peer, S, Gruber, T, Krawitz, P, Brossart, P, Heine, A, Landsberg, J, Baier, G, and Wolf, D (2021).
Journal for ImmunoTherapy of Cancer, 9(7).
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)
Schierbaum, LM, Schneider, S, Herms, S, Sivalingam, S, Fabian, J, Reutter, H, Weber, S, Merz, WM, Tkaczyk, M, Miklaszewska, M, Sikora, P, Szmigielska, A, Krzemien, G, Zachwieja, K, Szczepanska, M, Taranta-Janusz, K, Kroll, P, Polok, M, Zaniew, M, and Hilger, AC (2021).
Special Issue De novo Mutations and the Lack of Heritability in Birth Defects
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
Schmidt, A, Peters, S, Knaus, A, Sabir, H, Hamsen, F, Maj, C, Fazaal, J, Sivalingam, S, Savchenko, O, Mantri, A, Holzinger, D, Neudorf, U, Müller, A, Ludwig, KU, Krawitz, PM, Engels, H, Nöthen, MM, and Bagci, S (2021).
npj Genomic Medicine, 6(1):55.
Extending the allelic spectrum at noncoding risk loci of orofacial clefting
Thieme, F, Henschel, L, Hammond, NL, Ishorst, N, Hausen, J, Adamson, AD, Biedermann, A, Bowes, J, Zieger, HK, Maj, C, Kruse, T, Buness, A, Hoischen, A, Gilissen, C, Kreusch, T, Jäger, A, Gölz, L, Braumann, B, Aldhorae, K, Rojas-Martinez, A, Krawitz, PM, Mangold, E, Dixon, MJ, and Ludwig, KU (2021).
Human Mutation, 42(8):1066--1078.
New technologies for intensive prevention programs after myocardial infarction: rationale and design of the NET-IPP trial
Wienbergen, H, Fach, A, Erdmann, J, Katalinic, A, Eisemann, N, Krawitz, P, Maj, C, Borisov, O, Munz, M, Noethen, M, Meyer-Saraei, R, Osteresch, R, Schmucker, J, Linke, A, Eitel, I, Hambrecht, R, and Langer, H (2021).
Clinical Research in Cardiology, 110(2):153--161.