Zeroing in on LRRK2-Linked Pathogenic Mechanisms in Parkinson’s Disease

Tekijä Biskup, Saskia, West, Andrew B.
Julkaistu 2008

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

Tekijä Saathoff, Yannic, Biskup, Saskia, Funke, Claudia, Roth, Christian
Julkaisussa J Mov Disord (2021)

The question of WGS’s clinical utility remains unanswered

Tekijä Battke, Florian, Schulte, Björn, Schulze, Martin, Biskup, Saskia
Julkaisussa Eur J Hum Genet (2021)

Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report

Tekijä Hofstaetter, Cornelia, Courage, Carolina, Bartholdi, Deborah, Biskup, Saskia, Raio, Luigi
Julkaisussa Clin Case Rep (2018)

McArdle’s disease: A differential diagnosis of idiopathic toe walking

Tekijä Pomarino, David, Martin, Stephan, Pomarino, Andrea, Morigeau, Stefanie, Biskup, Saskia
Julkaisussa J Orthop (2018)

A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy

Tekijä Korenke, Georg Christoph, Schulte, Björn, Biskup, Saskia, Neidhardt, John, Owczarek-Lipska, Marta
Julkaisussa Mol Syndromol (2020)

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

Tekijä Mainka, Tina, Biskup, Saskia, Kühn, Andrea A., Klein, Christine, Lohmann, Katja, Ganos, Christos
Julkaisussa Mov Disord Clin Pract (2020)

Further delineation of the SATB2 phenotype

Tekijä Döcker, Dennis, Schubach, Max, Menzel, Moritz, Munz, Marita, Spaich, Christiane, Biskup, Saskia, Bartholdi, Deborah
Julkaisussa Eur J Hum Genet (2014)

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

Tekijä Stock, Friedrich, Hanisch, Marcel, Lechner, Sarah, Biskup, Saskia, Bohring, Axel, Zschocke, Johannes, Kapferer-Seebacher, Ines
Julkaisussa Biomolecules (2021)

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

Tekijä van Riesen, Anne K., Biskup, Saskia, Kühn, Andrea A., Kaindl, Angela M., van Riesen, Christoph
Julkaisussa Mov Disord Clin Pract (2021)

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

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

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

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

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

Tekijä Döcker, Dennis, Schubach, Max, Menzel, Moritz, Spaich, Christiane, Gabriel, Heinz-Dieter, Zenker, Martin, Bartholdi, Deborah, Biskup, Saskia
Julkaisussa Eur J Hum Genet (2015)

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

Tekijä Hickmann, Anne-Katrin, Frick, Maximilian, Hadaschik, Dirk, Battke, Florian, Bittl, Markus, Ganslandt, Oliver, Biskup, Saskia, Döcker, Dennis
Julkaisussa BMC Cancer (2019)

NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

Tekijä Sandestig, Anna, Engström, Karolina, Pepler, Alexander, Danielsson, Ingela, Odelberg-Johnsson, Per, Biskup, Saskia, Holz, Anja, Stefanova, Margarita
Julkaisussa Mol Syndromol (2020)

Oncogenic KRAS hotspot mutations are rare in IDH‐mutant gliomas

Tekijä Schittenhelm, Jens, Krischker, Nadin, Gepfner‐Tuma, Irina, Behling, Felix, Noell, Susan, Eckert, Franziska, Biskup, Saskia, Tabatabai, Ghazaleh
Julkaisussa Brain Pathol (2019)

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

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

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

Tekijä Hermann, Andreas, Kitzler, Hagen H., Pollack, Tobias, Biskup, Saskia, Krüger, Stefanie, Funke, Claudia, Terrile, Caterina, Haack, Tobias B.
Julkaisussa Tremor Other Hyperkinet Mov (N Y) (2017)

Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review

Tekijä Sandestig, Anna, Green, Anna, Jonasson, Jon, Vogt, Hartmut, Wahlström, Johan, Pepler, Alexander, Ellnebo, Katarina, Biskup, Saskia, Stefanova, Margarita
Julkaisussa Mol Syndromol (2019)

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

Tekijä Amaral, Teresa, Schulze, Martin, Sinnberg, Tobias, Nieser, Maike, Martus, Peter, Battke, Florian, Garbe, Claus, Biskup, Saskia, Forschner, Andrea
Julkaisussa Cancers (Basel) (2020)