Found: 17

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  • Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.

    Published in:
    Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2109
    By:
    • Ishorst, Nina;
    • Henschel, Leonie;
    • Thieme, Frederic;
    • Drichel, Dmitriy;
    • Sivalingam, Sugirthan;
    • Mehrem, Sarah L.;
    • Fechtner, Ariane C.;
    • Fazaal, Julia;
    • Welzenbach, Julia;
    • Heimbach, André;
    • Maj, Carlo;
    • Borisov, Oleg;
    • Hausen, Jonas;
    • Raff, Ruth;
    • Hoischen, Alexander;
    • Dixon, Michael;
    • Rada‐Iglesias, Alvaro;
    • Bartusel, Michaela;
    • Rojas‐Martinez, Augusto;
    • Aldhorae, Khalid
    Publication type:
    Article

  • Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

    Published in:
    Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0732-y
    By:
    • Forstner, Andreas J.;
    • Fischer, Sascha B.;
    • Schenk, Lorena M.;
    • Strohmaier, Jana;
    • Maaser-Hecker, Anna;
    • Reinbold, Céline S.;
    • Sivalingam, Sugirthan;
    • Hecker, Julian;
    • Streit, Fabian;
    • Degenhardt, Franziska;
    • Witt, Stephanie H.;
    • Schumacher, Johannes;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Guzman-Parra, José;
    • Orozco Diaz, Guillermo;
    • Auburger, Georg;
    • Albus, Margot;
    • Borrmann-Hassenbach, Margitta;
    • González, Maria José
    Publication type:
    Article

  • Mapping of cis-acting expression quantitative trait loci in human scalp hair follicles.

    Published in:
    2020
    By:
    • Herrera-Rivero, Marisol;
    • Hochfeld, Lara M.;
    • Sivalingam, Sugirthan;
    • Nöthen, Markus M.;
    • Heilmann-Heimbach, Stefanie
    Publication type:
    journal article

  • GenRisk: a tool for comprehensive genetic risk modeling.

    Published in:
    Bioinformatics, 2022, v. 38, n. 9, p. 2651, doi. 10.1093/bioinformatics/btac152
    By:
    • Aldisi, Rana;
    • Hassanin, Emadeldin;
    • Sivalingam, Sugirthan;
    • Buness, Andreas;
    • Klinkhammer, Hannah;
    • Mayr, Andreas;
    • Fröhlich, Holger;
    • Krawitz, Peter;
    • Maj, Carlo
    Publication type:
    Article

  • TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00220-w
    By:
    • Schmidt, Axel;
    • Peters, Sophia;
    • Knaus, Alexej;
    • Sabir, Hemmen;
    • Hamsen, Frauke;
    • Maj, Carlo;
    • Fazaal, Julia;
    • Sivalingam, Sugirthan;
    • Savchenko, Oleksandr;
    • Mantri, Aakash;
    • Holzinger, Dirk;
    • Neudorf, Ulrich;
    • Müller, Andreas;
    • Ludwig, Kerstin U.;
    • Krawitz, Peter M.;
    • Engels, Hartmut;
    • Nöthen, Markus M.;
    • Bagci, Soyhan
    Publication type:
    Article

  • Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

    Published in:
    PLoS ONE, 2021, v. 16, n. 11, p. 1, doi. 10.1371/journal.pone.0259185
    By:
    • Perne, Claudia;
    • Peters, Sophia;
    • Cartolano, Maria;
    • Horpaopan, Sukanya;
    • Grimm, Christina;
    • Altmüller, Janine;
    • Sommer, Anna K.;
    • Hillmer, Axel M.;
    • Thiele, Holger;
    • Odenthal, Margarete;
    • Möslein, Gabriela;
    • Adam, Ronja;
    • Sivalingam, Sugirthan;
    • Kirfel, Jutta;
    • Schweiger, Michal R.;
    • Peifer, Martin;
    • Spier, Isabel;
    • Aretz, Stefan
    Publication type:
    Article

  • A high-salt diet compromises antibacterial neutrophil responses through hormonal perturbation.

    Published in:
    Science Translational Medicine, 2020, v. 12, n. 536, p. 1, doi. 10.1126/scitranslmed.aay3850
    By:
    • Jobin, Katarzyna;
    • Stumpf, Natascha E.;
    • Schwab, Sebastian;
    • Eichler, Melanie;
    • Neubert, Patrick;
    • Rauh, Manfred;
    • Adamowski, Marek;
    • Babyak, Olena;
    • Hinze, Daniel;
    • Sivalingam, Sugirthan;
    • Weisheit, Christina;
    • Hochheiser, Katharina;
    • Schmidt, Susanne;
    • Meissner, Mirjam;
    • Garbi, Natalio;
    • Abdullah, Zeinab;
    • Wenzel, Ulrich;
    • Hölzel, Michael;
    • Jantsch, Jonathan;
    • Kurts, Christian
    Publication type:
    Article

  • Impact on birth weight of maternal smoking throughout pregnancy mediated by DNA methylation.

    Published in:
    BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-4652-7
    By:
    • Witt, Stephanie H.;
    • Frank, Josef;
    • Gilles, Maria;
    • Lang, Maren;
    • Treutlein, Jens;
    • Streit, Fabian;
    • Wolf, Isabell A. C.;
    • Peus, Verena;
    • Scharnholz, Barbara;
    • Send, Tabea S.;
    • Heilmann-Heimbach, Stefanie;
    • Sivalingam, Sugirthan;
    • Dukal, Helene;
    • Strohmaier, Jana;
    • Sütterlin, Marc;
    • Arloth, Janine;
    • Laucht, Manfred;
    • Nöthen, Markus M.;
    • Deuschle, Michael;
    • Rietschel, Marcella
    Publication type:
    Article

  • Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus.

    Published in:
    Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01818-4
    By:
    • Schulz, Herbert;
    • Ruppert, Ann-Kathrin;
    • Herms, Stefan;
    • Wolf, Christiane;
    • Mirza-Schreiber, Nazanin;
    • Stegle, Oliver;
    • Czamara, Darina;
    • Forstner, Andreas J.;
    • Sivalingam, Sugirthan;
    • Schoch, Susanne;
    • Moebus, Susanne;
    • Pütz, Benno;
    • Hillmer, Axel;
    • Fricker, Nadine;
    • Vatter, Hartmut;
    • Müller-Myhsok, Bertram;
    • Nöthen, Markus M.;
    • Becker, Albert J.;
    • Hoffmann, Per;
    • Sander, Thomas
    Publication type:
    Article

  • Sustained Immunoparalysis in Endotoxin-Tolerized Monocytic Cells.

    Published in:
    Mediators of Inflammation, 2020, p. 1, doi. 10.1155/2020/8294342
    By:
    • Weisheit, Christina K.;
    • Klüners, Alexandra;
    • Wild, Lennart;
    • Casalter, Alexandra;
    • Heilmann-Heimbach, Stefanie;
    • Sivalingam, Sugirthan;
    • Kleiner, Jan L.;
    • Ehrentraut, Stefan F.;
    • Hoeft, Andreas;
    • Frede, Stilla;
    • Ehrentraut, Heidi
    Publication type:
    Article

  • Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome.

    Published in:
    Human Mutation, 2022, v. 43, n. 11, p. 1659, doi. 10.1002/humu.24467
    By:
    • Brand, Fabian;
    • Vijayananth, Aswinkumar;
    • Hsieh, Tzung‐Chien;
    • Schmidt, Axel;
    • Peters, Sophia;
    • Mangold, Elisabeth;
    • Cremer, Kirsten;
    • Bender, Tim;
    • Sivalingam, Sugirthan;
    • Hundertmark, Hela;
    • Knaus, Alexej;
    • Engels, Hartmut;
    • Krawitz, Peter M.;
    • Perne, Claudia
    Publication type:
    Article

  • Gene-based burden scores identify rare variant associations for 28 blood biomarkers.

    Published in:
    BMC Genomic Data, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12863-023-01155-0
    By:
    • Aldisi, Rana;
    • Hassanin, Emadeldin;
    • Sivalingam, Sugirthan;
    • Buness, Andreas;
    • Klinkhammer, Hannah;
    • Mayr, Andreas;
    • Fröhlich, Holger;
    • Krawitz, Peter;
    • Maj, Carlo
    Publication type:
    Article

  • Heterogeneity and excitability of BRAFV600E-induced tumors is determined by Akt/mTOR-signaling state and Trp53-loss.

    Published in:
    Neuro-Oncology, 2022, v. 24, n. 5, p. 741, doi. 10.1093/neuonc/noab268
    By:
    • Cases-Cunillera, Silvia;
    • Loo, Karen M J van;
    • Pitsch, Julika;
    • Quatraccioni, Anne;
    • Sivalingam, Sugirthan;
    • Salomoni, Paolo;
    • Borger, Valeri;
    • Dietrich, Dirk;
    • Schoch, Susanne;
    • Becker, Albert J
    Publication type:
    Article

  • Advanced paternal age as a risk factor for neurodevelopmental disorders: a translational study.

    Published in:
    Molecular Autism, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13229-020-00345-2
    By:
    • Krug, Axel;
    • Wöhr, Markus;
    • Seffer, Dominik;
    • Rippberger, Henrike;
    • Sungur, A. Özge;
    • Dietsche, Bruno;
    • Stein, Frederike;
    • Sivalingam, Sugirthan;
    • Forstner, Andreas J.;
    • Witt, Stephanie H.;
    • Dukal, Helene;
    • Streit, Fabian;
    • Maaser, Anna;
    • Heilmann-Heimbach, Stefanie;
    • Andlauer, Till F. M.;
    • Herms, Stefan;
    • Hoffmann, Per;
    • Rietschel, Marcella;
    • Nöthen, Markus M.;
    • Lackinger, Martin
    Publication type:
    Article

  • Iron Deficiency Caused by Intestinal Iron Loss—Novel Candidate Genes for Severe Anemia.

    Published in:
    2021
    By:
    • Huettmann, Carolina;
    • Stelljes, Matthias;
    • Sivalingam, Sugirthan;
    • Fobker, Manfred;
    • Vrachimis, Alexis;
    • Exler, Anne;
    • Wenning, Christian;
    • Wempe, Carola;
    • Penke, Matthias;
    • Buness, Andreas;
    • Ludwig, Kerstin U.;
    • Muckenthaler, Martina U.;
    • Steinbicker, Andrea U.
    Publication type:
    Case Study

  • Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO).

    Published in:
    Genes, 2021, v. 12, n. 9, p. 1449, doi. 10.3390/genes12091449
    By:
    • Schierbaum, Luca M.;
    • Schneider, Sophia;
    • Herms, Stefan;
    • Sivalingam, Sugirthan;
    • Fabian, Julia;
    • Reutter, Heiko;
    • Weber, Stefanie;
    • Merz, Waltraut M.;
    • Tkaczyk, Marcin;
    • Miklaszewska, Monika;
    • Sikora, Przemyslaw;
    • Szmigielska, Agnieszka;
    • Krzemien, Grazyna;
    • Zachwieja, Katarzyna;
    • Szczepanska, Maria;
    • Taranta-Janusz, Katarzyna;
    • Kroll, Pawel;
    • Polok, Marcin;
    • Zaniew, Marcin;
    • Hilger, Alina C.
    Publication type:
    Article

  • Exome sequencing in large, multiplex bipolar disorder families from Cuba.

    Published in:
    PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205895
    By:
    • Maaser, Anna;
    • Forstner, Andreas J.;
    • Strohmaier, Jana;
    • Hecker, Julian;
    • Ludwig, Kerstin U.;
    • Sivalingam, Sugirthan;
    • Streit, Fabian;
    • Degenhardt, Franziska;
    • Witt, Stephanie H.;
    • Reinbold, Céline S.;
    • Koller, Anna C.;
    • Raff, Ruth;
    • Heilmann-Heimbach, Stefanie;
    • Fischer, Sascha B.;
    • null, null;
    • Herms, Stefan;
    • Hoffmann, Per;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Löhlein Fier, Heide
    Publication type:
    Article