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Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
Published in:
2017
By:
- Meisel, Cornelia;
- Sadowski, Carolin;
- Kohlstedt, Daniela;
- Keller, Katja;
- Stäritz, Franziska;
- Grübling, Nannette;
- Becker, Kerstin;
- Mackenroth, Luisa;
- Rump, Andreas;
- Schröck, Evelin;
- Arnold, Norbert;
- Wimberger, Pauline;
- Kast, Karin;
- Sadowski, Carolin Eva
Publication type:
journal article
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2545, doi. 10.1002/ajmg.a.38348
By:
- Gieldon, Laura;
- Mackenroth, Luisa;
- Betcheva‐Krajcir, Elitza;
- Rump, Andreas;
- Beck‐Wödl, Stefanie;
- Schallner, Jens;
- Di Donato, Nataliya;
- Schröck, Evelin;
- Tzschach, Andreas
Publication type:
Article
Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2394, doi. 10.1002/ajmg.a.37785
By:
- Mackenroth, Luisa;
- Hackmann, Karl;
- Klink, Barbara;
- Weber, Julia Sara;
- Mayer, Brigitte;
- Schröck, Evelin;
- Tzschach, Andreas
Publication type:
Article
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1080, doi. 10.1002/ajmg.a.37547
By:
- Mackenroth, Luisa;
- Fischer‐Zirnsak, Björn;
- Egerer, Johannes;
- Hecht, Jochen;
- Kallinich, Tilmann;
- Stenzel, Werner;
- Spors, Birgit;
- von Moers, Arpad;
- Mundlos, Stefan;
- Kornak, Uwe;
- Gerhold, Kerstin;
- Horn, Denise
Publication type:
Article
6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2800, doi. 10.1002/ajmg.a.37266
By:
- Mackenroth, Luisa;
- Hackmann, Karl;
- Beyer, Anke;
- Schallner, Jens;
- Novotna, Barbara;
- Klink, Barbara;
- Schröck, Evelin;
- Di Donato, Nataliya
Publication type:
Article
Label-free differentiation of human pituitary adenomas by FT-IR spectroscopic imaging.
Published in:
Analytical & Bioanalytical Chemistry, 2012, v. 404, n. 2, p. 727, doi. 10.1007/s00216-012-5824-y
By:
- Steiner, Gerald;
- Mackenroth, Luisa;
- Geiger, Kathrin;
- Stelling, Allison;
- Pinzer, Thomas;
- Uckermann, Ortrud;
- Sablinskas, Valdas;
- Schackert, Gabriele;
- Koch, Edmund;
- Kirsch, Matthias
Publication type:
Article
Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
Published in:
2016
By:
- Hackmann, Karl;
- Kuhlee, Franziska;
- Betcheva-Krajcir, Elitza;
- Kahlert, Anne-Karin;
- Mackenroth, Luisa;
- Klink, Barbara;
- Donato, Nataliya;
- Tzschach, Andreas;
- Kast, Karin;
- Wimberger, Pauline;
- Schrock, Evelin;
- Rump, Andreas
Publication type:
Report
HBOC multi-gene panel testing: comparison of two sequencing centers.
Published in:
Breast Cancer Research & Treatment, 2015, v. 152, n. 1, p. 129, doi. 10.1007/s10549-015-3429-9
By:
- Schroeder, Christopher;
- Faust, Ulrike;
- Sturm, Marc;
- Hackmann, Karl;
- Grundmann, Kathrin;
- Harmuth, Florian;
- Bosse, Kristin;
- Kehrer, Martin;
- Benkert, Tanja;
- Klink, Barbara;
- Mackenroth, Luisa;
- Betcheva-Krajcir, Elitza;
- Wimberger, Pauline;
- Kast, Karin;
- Heilig, Mechthilde;
- Nguyen, Huu;
- Riess, Olaf;
- Schröck, Evelin;
- Bauer, Peter;
- Rump, Andreas
Publication type:
Article
Correction: Diagnostic value of partial exome sequencing in developmental disorders.
Published in:
2020
By:
- Gieldon, Laura;
- Mackenroth, Luisa;
- Kahlert, Anne-Karin;
- Lemke, Johannes R.;
- Porrmann, Joseph;
- Schallner, Jens;
- von der Hagen, Maja;
- Markus, Susanne;
- Weidensee, Sabine;
- Novotna, Barbara;
- Soerensen, Charlotte;
- Klink, Barbara;
- Wagner, Johannes;
- Tzschach, Andreas;
- Jahn, Arne;
- Kuhlee, Franziska;
- Hackmann, Karl;
- Schrock, Evelin;
- Di Donato, Nataliya;
- Rump, Andreas
Publication type:
Correction Notice
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 15, p. 2923, doi. 10.1093/hmg/ddx175
By:
- Pinggera, Alexandra;
- Mackenroth, Luisa;
- Rump, Andreas;
- Schallner, Jens;
- Beleggia, Filippo;
- Wollnik, Bernd;
- Striessnig, Jö rg
Publication type:
Article
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Published in:
Science Translational Medicine, 2014, v. 6, n. 252, p. 1, doi. 10.1126/scitranslmed.3009262
By:
- Zemojtel, Tomasz;
- Köhler, Sebastian;
- Mackenroth, Luisa;
- Jäger, Marten;
- Hecht, Jochen;
- Krawitz, Peter;
- Graul-Neumann, Luitgard;
- Doelken, Sandra;
- Ehmke, Nadja;
- Spielmann, Malte;
- Øien, Nancy Christine;
- Schweiger, Michal R.;
- Krüger, Ulrike;
- Frommer, Götz;
- Fischer, Björn;
- Kornak, Uwe;
- Flöttmann, Ricarda;
- Ardeshirdavani, Amin;
- Moreau, Yves;
- Lewis, Suzanna E.
Publication type:
Article
Diagnostic value of partial exome sequencing in developmental disorders.
Published in:
PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201041
By:
- Gieldon, Laura;
- Mackenroth, Luisa;
- Kahlert, Anne-Karin;
- Lemke, Johannes R.;
- Porrmann, Joseph;
- Schallner, Jens;
- von der Hagen, Maja;
- Markus, Susanne;
- Weidensee, Sabine;
- Novotna, Barbara;
- Soerensen, Charlotte;
- Klink, Barbara;
- Wagner, Johannes;
- Tzschach, Andreas;
- Jahn, Arne;
- Kuhlee, Franziska;
- Hackmann, Karl;
- Schrock, Evelin;
- Di Donato, Nataliya;
- Rump, Andreas
Publication type:
Article
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
Published in:
PLoS Genetics, 2016, v. 12, n. 8, p. 1, doi. 10.1371/journal.pgen.1006248
By:
- Rump, Andreas;
- Benet-Pages, Anna;
- Schubert, Steffen;
- Kuhlmann, Jan Dominik;
- Janavičius, Ramūnas;
- Macháčková, Eva;
- Foretová, Lenka;
- Kleibl, Zdenek;
- Lhota, Filip;
- Zemankova, Petra;
- Betcheva-Krajcir, Elitza;
- Mackenroth, Luisa;
- Hackmann, Karl;
- Lehmann, Janin;
- Nissen, Anke;
- DiDonato, Nataliya;
- Opitz, Romy;
- Thiele, Holger;
- Kast, Karin;
- Wimberger, Pauline
Publication type:
Article

Found: 13