Disease-causing gene-flanking genomic rearrangements in HNPCC patients

por Morak, Monika, Massdorf, Trisari, Locher, Melanie, Holinski-Feder, Elke
Publicado 2011

Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations

por Harasim, Thomas, Neuhann, Teresa, Behnecke, Anne, Stampfer, Miriam, Holinski-Feder, Elke, Abicht, Angela
Publicado 2022

Primary Mucinous Adenocarcinoma of the Vermiform Appendix with High Grade Microsatellite Instability

por Komm, Moritz, Kronawitter-Fesl, Michaela, Kremer, Marcus, Lutz, Ludwig, Holinski-Feder, Elke, Kopp, Reinhard
Publicado 2011

Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline

por Kratz, Christian Peter, Steinke-Lange, Verena, Spier, Isabel, Aretz, Stefan, Schröck, Evelin, Holinski-Feder, Elke
Publicado 2021

Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome

por Hallermayr, Ariane, Graf, Janine, Koehler, Udo, Laner, Andreas, Schönfeld, Brigitte, Benet‐Pagès, Anna, Holinski‐Feder, Elke
Publicado 2018

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes

por Diebold, Isabel, Schön, Ulrike, Scharf, Florentine, Benet‐Pagès, Anna, Laner, Andreas, Holinski‐Feder, Elke, Abicht, Angela
Publicado 2020

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

por Christophe-Hobertus, Christiane, Kooy, Frank, Gecz, Jozef, Abramowicz, Marc J, Holinski-Feder, Elke, Schwartz, Charles, Christophe, Daniel
Publicado 2004

Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method

por Abicht, Angela, Scharf, Florentine, Kleinle, Stephanie, Schön, Ulrike, Holinski‐Feder, Elke, Horvath, Rita, Benet‐Pagès, Anna, Diebold, Isabel
Publicado 2018

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death

por Schön, Ulrike, Holzer, Anna, Laner, Andreas, Kleinle, Stephanie, Scharf, Florentine, Benet-Pagès, Anna, Peschel, Oliver, Holinski-Feder, Elke, Diebold, Isabel
Publicado 2021

Clinical Validity of Circulating Tumor DNA as Prognostic and Predictive Marker for Personalized Colorectal Cancer Patient Management

por Hallermayr, Ariane, Steinke-Lange, Verena, Vogelsang, Holger, Rentsch, Markus, de Wit, Maike, Haberl, Christopher, Holinski-Feder, Elke, Pickl, Julia M. A.
Publicado 2022

Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients

por Henkel, Jan, Laner, Andreas, Locher, Melanie, Wohlfrom, Tobias, Neitzel, Birgit, Becker, Kerstin, Neuhann, Teresa, Abicht, Angela, Steinke-Lange, Verena, Holinski-Feder, Elke
Publicado 2023

Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants

por Hallermayr, Ariane, Neuhann, Teresa M., Steinke-Lange, Verena, Scharf, Florentine, Laner, Andreas, Ewald, Roland, Liesfeld, Ben, Holinski-Feder, Elke, Pickl, Julia M. A.
Publicado 2022

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation

por von Salomé, Jenny, Liu, Tao, Keihäs, Markku, Morak, Moni, Holinski-Feder, Elke, Berry, Ian R., Moilanen, Jukka S., Baert-Desurmont, Stéphanie, Lindblom, Annika, Lagerstedt-Robinson, Kristina
Publicado 2017

Identification of genetic variants for clinical management of familial colorectal tumors

por Dominguez-Valentin, Mev, Nakken, Sigve, Tubeuf, Hélène, Vodak, Daniel, Ekstrøm, Per Olaf, Nissen, Anke M., Morak, Monika, Holinski-Feder, Elke, Martins, Alexandra, Møller, Pål, Hovig, Eivind
Publicado 2018

Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays

por Hallermayr, Ariane, Keßler, Thomas, Fujera, Moritz, Liesfeld, Ben, Bernstein, Samuel, von Ameln, Simon, Schanze, Denny, Steinke-Lange, Verena, Pickl, Julia M. A., Neuhann, Teresa M., Holinski-Feder, Elke
Publicado 2023

Mitochondrial dysfunction in liver failure requiring transplantation

por Lane, Maria, Boczonadi, Veronika, Bachtari, Sahar, Gomez-Duran, Aurora, Langer, Thorsten, Griffiths, Alexandra, Kleinle, Stephanie, Dineiger, Christine, Abicht, Angela, Holinski-Feder, Elke, Schara, Ulrike, Gerner, Patrick, Horvath, Rita
Publicado 2016

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

por Stepp, Monica L, Cason, A Lauren, Finnis, Merran, Mangelsdorf, Marie, Holinski-Feder, Elke, Macgregor, David, MacMillan, Andrée, Holden, Jeanette JA, Gecz, Jozef, Stevenson, Roger E, Schwartz, Charles E
Publicado 2005

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

por Dominguez-Valentin, Mev, Evans, D. Gareth R., Nakken, Sigve, Tubeuf, Hélène, Vodak, Daniel, Ekstrøm, Per Olaf, Nissen, Anke M., Morak, Monika, Holinski-Feder, Elke, Martins, Alexandra, Møller, Pål, Hovig, Eivind
Publicado 2018

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome

por Schwenk, Vincent, Leal Silva, Rafaela Magalhaes, Scharf, Florentine, Knaust, Katharina, Wendlandt, Martin, Häusser, Tanja, Pickl, Julia M A, Steinke-Lange, Verena, Laner, Andreas, Morak, Monika, Holinski-Feder, Elke, Wolf, Dieter A
Publicado 2023

Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients

por Hallermayr, Ariane, Wohlfrom, Tobias, Steinke-Lange, Verena, Benet-Pagès, Anna, Scharf, Florentine, Heitzer, Ellen, Mansmann, Ulrich, Haberl, Christopher, de Wit, Maike, Vogelsang, Holger, Rentsch, Markus, Holinski-Feder, Elke, Pickl, Julia M. A.
Publicado 2022