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2021

This folder holds the following references to publications, sorted by year and author.

There are 16 references in this bibliography folder.

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).
Genome sequencing in families with congenital limb malformations
Human Genetics, 140(8):1229--1239.

Glessner, JT, Hou, X, Zhong, C, Zhang, J, Khan, M, Brand, F, Krawitz, P, Sleiman, PMA, Hakonarson, H, and Wei, Z (2021).
DeepCNV: a deep learning approach for authenticating copy number variations
Briefings in Bioinformatics, 22(5).

Hassanin, E, May, P, Aldisi, R, Krawitz, P, and Maj, C (2021).
Assessing the role of polygenic background on the penetrance of monogenic forms in Parkinson ' s disease Introduction :
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Hassanin, E, May, P, Aldisi, R, Spier, I, Forstner, AJ, Nöthen, M, Aretz, S, Krawitz, P, Bobbili, DR, and Maj, C (2021).
Breast and prostate cancer risk : the interplay of polygenic risk , high-impact monogenic variants , and family history
.

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).
Iron Deficiency Caused by Intestinal Iron Loss—Novel Candidate Genes for Severe Anemia
In: , vol. 12, chap. Iron Deficiency Caused by Intestinal Iron Loss—Novel Candidate Genes for Severe Anemia.

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).
Multimodal Machine Learning Workflows for Prediction of Psychosis in Patients With Clinical High-Risk Syndromes and Recent-Onset Depression
JAMA Psychiatry, 78(2):195--209.

Langkabel, J, Horne, A, Bonaguro, L, Holsten, L, Hesse, T, Knaus, A, Riedel, Y, Becker, M, Händler, K, Elmzzahi, T, Bassler, K, Reusch, N, Yeghiazarian, LH, Pecht, T, Saglam, A, Ulas, T, Aschenbrenner, AC, Kaiser, F, Kubaczka, C, Schultze, JL, and Schorle, H (2021).
Induction of Rosette-to-Lumen stage embryoids using reprogramming paradigms in ESCs
Nature Communications, 12(1):7322.

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).
Knowledge transfer to enhance the performance of deep learning models for automated classification of B cell neoplasms
Patterns:100351.

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).
CADA: Phenotype-driven gene prioritization based on a case-enriched knowledge graph
medRxiv.

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).
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis
PLOS ONE, 16(11):e0259185.

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).
A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions
Proceedings of the National Academy of Sciences, 118(2).

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).
Tumor rejection in Cblb-/- mice depends on IL-9 and Th9 cells
Journal for ImmunoTherapy of Cancer, 9(7).

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).
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)
In: , vol. 12, chap. Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO).

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).
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
npj Genomic Medicine, 6(1):55.

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).
Extending the allelic spectrum at noncoding risk loci of orofacial clefting
Human Mutation, 42(8):1066--1078.

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).
New technologies for intensive prevention programs after myocardial infarction: rationale and design of the NET-IPP trial
Clinical Research in Cardiology, 110(2):153--161.

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