New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia

por Saathoff, Yannic, Biskup, Saskia, Funke, Claudia, Roth, Christian
Publicado 2021

The question of WGS’s clinical utility remains unanswered

por Battke, Florian, Schulte, Björn, Schulze, Martin, Biskup, Saskia
Publicado 2021

Network-targeting combination therapy of leptomeningeal glioblastoma using multiple synthetic lethal strategies: a case report

por Castro, Michael P., Sipos, Bence, Biskup, Saskia, Kahn, Nina
Publicado 2023

Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report

por Hofstaetter, Cornelia, Courage, Carolina, Bartholdi, Deborah, Biskup, Saskia, Raio, Luigi
Publicado 2018

Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell Transplantation

por Mainka, Tina, Biskup, Saskia, Kühn, Andrea A., Klein, Christine, Lohmann, Katja, Ganos, Christos
Publicado 2020

Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing

por Quitmann, Christina M., Rust, Stephan, Reunert, Janine, Biskup, Saskia, Fiedler, Barbara, Marquardt, Thorsten
Publicado 2021

Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes

por Maurer, Martin H, Kohler, Anja, Hudemann, Melanie, Jüngling, Jerome, Biskup, Saskia, Menzel, Martin
Publicado 2022

Neurodevelopmental disorder with dystonia due to SOX6 mutations

por Schneider, Susanne A., Mueller, Christine, Biskup, Saskia, Fietzek, Urban M., Schroeder, Andreas Sebastian
Publicado 2022

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

por Stock, Friedrich, Hanisch, Marcel, Lechner, Sarah, Biskup, Saskia, Bohring, Axel, Zschocke, Johannes, Kapferer-Seebacher, Ines
Publicado 2021

Novel Mutation in the TSFM Gene Causes an Early‐Onset Complex Chorea without Basal Ganglia Lesions

por van Riesen, Anne K., Biskup, Saskia, Kühn, Andrea A., Kaindl, Angela M., van Riesen, Christoph
Publicado 2021

Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family

por Maass, Fabian, Jamous, Ala, Biskup, Saskia, Eisenberg, Hanna, D'Hedouville, Zara, Bähr, Mathias, van Riesen, Christoph
Publicado 2023

Exome Enrichment and SOLiD Sequencing of Formalin Fixed Paraffin Embedded (FFPE) Prostate Cancer Tissue

por Menon, Roopika, Deng, Mario, Boehm, Diana, Braun, Martin, Fend, Falko, Boehm, Detlef, Biskup, Saskia, Perner, Sven
Publicado 2012

A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

por Engeholm, Maik, Sekler, Julia, Schöndorf, David C, Arora, Vineet, Schittenhelm, Jens, Biskup, Saskia, Schell, Caroline, Gasser, Thomas
Publicado 2014

Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomas

por Hickmann, Anne-Katrin, Frick, Maximilian, Hadaschik, Dirk, Battke, Florian, Bittl, Markus, Ganslandt, Oliver, Biskup, Saskia, Döcker, Dennis
Publicado 2019

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in...

por Szczawińska-Popłonyk, Aleksandra, Popłonyk, Natalia, Badura-Stronka, Magdalena, Juengling, Jerome, Huhn, Kerstin, Biskup, Saskia, Bancerz, Bartłomiej, Walkowiak, Jarosław
Publicado 2023

Analysis of the intestinal microbiota using SOLiD 16S rRNA gene sequencing and SOLiD shotgun sequencing

por Mitra, Suparna, Förster-Fromme, Karin, Damms-Machado, Antje, Scheurenbrand, Tim, Biskup, Saskia, Huson, Daniel H, Bischoff, Stephan C
Publicado 2013

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45

por Hermann, Andreas, Kitzler, Hagen H., Pollack, Tobias, Biskup, Saskia, Krüger, Stefanie, Funke, Claudia, Terrile, Caterina, Haack, Tobias B.
Publicado 2017

Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?

por Amaral, Teresa, Schulze, Martin, Sinnberg, Tobias, Nieser, Maike, Martus, Peter, Battke, Florian, Garbe, Claus, Biskup, Saskia, Forschner, Andrea
Publicado 2020

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis

por FAN, CHUNXIANG, KUHN, MARIUS, MBIOL, ALEXANDER PEPLER, GROOME, JAMES, WINSTON, VERN, BISKUP, SASKIA, LEHMANN-HORN, FRANK, JURKAT-ROTT, KARIN
Publicado 2018

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies

por Nowomiejska, Katarzyna, Nasser, Fadi, Stingl, Katarina, Schimpf-Linzenbold, Simone, Biskup, Saskia, Brzozowska, Agnieszka, Rejdak, Robert, Kohl, Susanne, Zrenner, Eberhart
Publicado 2022