Saskia Biskup

发表

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

Molekulargenetische und zytogenetische Diagnostik/ Redaktion: H.-G. Klein Molecular-Genetic and Cytogenetic Diagnostics

Ina Vogl, Sebastian H. Eck, Philipp A. Greif, 2013 .

PEDIA: Prioritization of Exome Data by Image Analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018 .

Genetic Testing: An Industrial Perspective

Saskia Biskup, Dirk Hadaschik, Yasmin Singh, 2015 .

Spatial Genomics: Mapping Spatial Genetic Landscapes in Tissue Sections through Microscale Integration of Sampling Methodology into Genomic Workflows (Small 23/2021)

Lennart Opitz, Govind V. Kaigala, Ralph Schlapbach, 2021 .

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Thomas Meitinger, Joanna Poulton, Hans-Werner Mewes, 2010, Nature Genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Linkage disequilibrium patterns and tagSNP transferability among European populations.

Thomas Meitinger, Giovanni Romeo, Andres Metspalu, 2005, American journal of human genetics.

MED15, encoding a subunit of the mediator complex, is overexpressed at high frequency in castration‐resistant prostate cancer

Christian Ruiz, Saskia Biskup, Martin Braun, 2014, International journal of cancer.

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

Saskia Biskup, Mario Deng, Martin Braun, 2012, International journal of molecular sciences.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

Genes associated with Parkinson syndrome

Saskia Biskup, Thomas Gasser, Andreas Kupsch, 2008, Journal of Neurology.

GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy

Markus Wolff, Saskia Biskup, M. Schwake, 2014, Annals of neurology.

Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology

Thomas Meitinger, Bertram Müller-Myhsok, Saskia Biskup, 2004, Neuron.