Saskia Biskup

14.5k citations

158 papers · 6.0k indexed · 2 hit papers · h-index 36

Impact in

Neurology top 0.2%
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
Cellular and Molecular Neuroscience top 1%
- Genetic Neurodegenerative Diseases
- Nuclear Receptors and Signaling

Papers in

Neurology 42
- Parkinson's Disease Mechanisms and Treatments 25
- Neurological diseases and metabolism 14
Genetics 49
- Genetics and Neurodevelopmental Disorders 22
- Genomics and Rare Diseases 21

Co-authors: Andrew B. West Darren J. Moore Valina L. Dawson Ted M. Dawson Artem Bugayenko Christopher A. Ross Wanli W. Smith Shaida A. Andrabi
Journals: European Journal of Human Genetics (5 papers)Journal of Neurology (5 papers)Human Mutation (5 papers)Neurobiology of Aging (4 papers)Neuropediatrics (4 papers)
Partner nations: Germany United States Switzerland

In The Last Decade

Saskia Biskup

148 papers receiving 5.9k citations

Hit Papers

align trajectories log scale

Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity 2005 · 945 citations

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if any of the following hold:

it has ≥500 total citations;
it reaches ≥1.5× the top-1% citation threshold for papers in the same subfield and year (the threshold is the minimum needed to enter the top 1%, not the average within it);
it reaches the top citation threshold in at least one of its specific research topics.

2005 Proceedings of the National Academy of Sciences
2005 The Lancet

Peers

Countries citing papers authored by Saskia Biskup

Since Specialization

Citations

This map shows the geographic impact of Saskia Biskup's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Saskia Biskup with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Saskia Biskup more than expected).

Fields of papers citing papers by Saskia Biskup

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Saskia Biskup. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Saskia Biskup. The network helps show where Saskia Biskup may publish in the future.

Co-authors

The 25 scholars most cited alongside Saskia Biskup, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Saskia Biskup Line = papers co-authored together Saskia Biskup links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy American Journal of Ophthalmology ·Jan-Philipp Bodenbender, Leon Bethge, Katarína Štingl, Pascale Mazzola, Tobias B. Haack, Saskia Biskup, Bernd Wissinger, Nicole Weisschuh, Susanne Kohl, Laura Kühlewein	2024	3
2	A second hotspot for pathogenic exon-skipping variants in CDC45 European Journal of Human Genetics ·Kelly Schoch, Mischa S. G. Ruegg, Bridget J. Fellows, Joseph Cao, Sabine Uhrig, Stephanie Einsele‐Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra, (unknown), Chris M. Brown, Andrea Accogli, Vandana Shashi, Louise S. Bicknell	2024	1
3	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 CDC42: a case report Frontiers in Genetics ·Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura‐Stronka, Jerome Juengling, Kerstin Huhn, Saskia Biskup, Bartłomiej Bancerz, Jarosław Walkowiak	2023	3
4	Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family Movement Disorders Clinical Practice ·Fabian Maass, Ala Jamous, Saskia Biskup, Hanna Eisenberg, Zara D'Hedouville, Mathias Bähr, Christoph van Riesen	2023	1
5	Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy International Journal of Molecular Sciences ·Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarína Štingl, Tobias B. Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco, Nicole Weisschuh	2023	5
6	Analytical Performance Evaluation of a 523-Gene Circulating Tumor DNA Assay for Next-Generation Sequencing–Based Comprehensive Tumor Profiling in Liquid Biopsy Samples Journal of Molecular Diagnostics ·Johannes Harter, Eleonora Buth, J. Johaenning, Florian Battke, Maria Kopp, Henning Zelba, Martin Schulze, Jiri Koedding, Saskia Biskup	2023	2
7	Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort Genes ·Fadi Nasser, Susanne Kohl, Anne Kurtenbach, Melanie Kempf, Saskia Biskup, Theresia Zuleger, Tobias B. Haack, Nicole Weisschuh, Katarína Štingl, Eberhart Zrenner	2022	8
8	Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition Clinical Genetics ·Orli Michaeli, Hagay Ladany, Ayelet Erez, Shay Ben Shachar, Shai Izraeli, Gabriel Lidzbarsky, Lina Basel‐Salmon, Saskia Biskup, Yosef E. Maruvka, Helen Toledano, Yael Goldberg	2021	10
9	Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders International Journal of Molecular Sciences ·Jan Henje Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin Alexandra Klotz, Thomas Bast, Tobias Dietel, Georg Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke S. Møller, Gaëtan Lesca, Yves Chaix, Stefan Kölker, Georg F. Hoffmann, Johannes R. Lemke, Steffen Syrbe	2021	25
10	Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder Human Mutation ·Francesca Semino, Julian Schröter, Marjolein H. Willemsen, Thomas Bast, Saskia Biskup, Stefanie Beck‐Woedl, Heiko Brennenstuhl, Christian P. Schaaf, Stefan Kölker, Georg F. Hoffmann, Tobias B. Haack, Steffen Syrbe	2021	12
11	Clinical and Genetic Tumor Characteristics of Responding and Non-Responding Patients to PD-1 Inhibition in Hepatocellular Carcinoma Cancers ·Stephan Spahn, Daniel Roessler, Radu Pompilia, Gisela Gabernet, Beryl Primrose Gladstone, Marius Horger, Saskia Biskup, Magdalena Feldhahn, Sven Nahnsen, Franz J. Hilke, Bernhard Scheiner, Jean‐François Dufour, Enrico N. De Toni, Matthias Pinter, Nisar P. Malek, Michael Bitzer	2020	52
12	A Highly Specific Assay for the Detection of SARS-CoV-2–Reactive CD4+ and CD8+ T Cells in COVID-19 Patients The Journal of Immunology ·Henning Zelba, David Worbs, Johannes Harter, Natalia Pieper, Christina Kyzirakos-Feger, Simone Kayser, Marcel Seibold, Oliver Bartsch, Jiri Ködding, Saskia Biskup	2020	13
13	Utility of Serial Transcriptomic Analyses to Characterize the Resistome and to Refine Treatment Selection for Metastatic Colon Cancer: Case Report Clinical Colorectal Cancer ·Michael Castro, Mohammad Afshar, Coralie Williams, T. Turcat, David M. Parker, Eva J. Gordon, Jessica Zambelli, Amber McDonald, Collen Suh, Sheley Baylon, Saskia Biskup	2020	0
14	SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis Brain ·Julien H. Park, Christiane Elpers, Janine Reunert, Michael L. McCormick, Julia Mohr, Saskia Biskup, Oliver Schwartz, Stephan Rust, Marianne Grüneberg, Anja Seelhöfer, Ulrike Schara, Eugen Boltshauser, Douglas R. Spitz, Thorsten Marquardt	2019	62
15	Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome American Journal of Medical Genetics Part A ·Thushiha Logeswaran, Christoph Friedburg, Karoline Hofmann, Hakan Akintuerk, Saskia Biskup, Michael Graef, Ali Bahrami Rad, Axel Weber, Bernd A. Neubauer, Dietmar Schranz, Patrice Bouvagnet, Birgit Lorenz, Andreas Hahn	2017	6
16	Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment Journal of Neurology ·Claudia B. Catarino, Christian Vollmar, Clemens Küpper, Klaus Seelos, Constanze Gallenmüller, Joanna Bartkiewicz, Saskia Biskup, Konstanze Hörtnagel, Thomas Klopstock	2017	8
17	Loss-of-function variants in HIVEP2 are a cause of intellectual disability European Journal of Human Genetics ·Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Kreiß, Sabine Endele, Tim M. Strom, Dagmar Wieczorek, Martin Zenker, Siddharth Gupta, Julie S. Cohen, Alexander M. Zink, Sakkubai Naidu	2015	31
18	Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy Neurology ·Julia Schicks, Jennifer Müller vom Hagen, Peter Bauer, Stefanie Beck‐Wödl, Saskia Biskup, Ingeborg Krägeloh‐Mann, Lüdger Schöls, Matthis Synofzik	2013	24
19	Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamily Human Molecular Genetics ·Klodjan Stafa, Elpida Tsika, Roger Moser, Alessandra Musso, Liliane Glauser, Amy Jones, Saskia Biskup, Yulan Xiong, Rina Bandopadhyay, Valina L. Dawson, Ted M. Dawson, Darren J. Moore	2013	106
20	Unexpected Lack of Hypersensitivity in LRRK2 Knock-Out Mice to MPTP (1-Methyl-4-Phenyl-1,2,3,6-Tetrahydropyridine) Journal of Neuroscience ·Eva Andrés‐Mateos, Rebeca Mejı́as, Masayuki Sasaki, Xiaojie Li, Brian M. Lin, Saskia Biskup, Li Zhang, Rebecca Banerjee, Bobby Thomas, Lichuan Yang, Guosheng Liu, M. Flint Beal, David L. Huso, Ted M. Dawson, Valina L. Dawson	2009	95

About Saskia Biskup

Saskia Biskup is a scholar working on Neurology, Neurology, Genetics, Cancer Research and Genetics, having authored 158 papers that have together received 6.0k indexed citations. Recurring topics across this work include Parkinson's Disease Mechanisms and Treatments (25 papers), Genetics and Neurodevelopmental Disorders (22 papers), Genomics and Rare Diseases (21 papers), Cancer Genomics and Diagnostics (16 papers), Neurological diseases and metabolism (14 papers), Alzheimer's disease research and treatments (13 papers), Genetic Neurodegenerative Diseases (12 papers) and Cancer Immunotherapy and Biomarkers (10 papers). The work is most often cited by research in Neurology (3.0k citations), Neurology (1.2k citations), Cellular and Molecular Neuroscience (1.3k citations), Physiology (1.3k citations) and Psychiatry and Mental health (649 citations). Saskia Biskup has collaborated with scholars based in Germany, United States and Switzerland. Frequent co-authors include Andrew B. West, Darren J. Moore, Valina L. Dawson, Ted M. Dawson, Artem Bugayenko, Christopher A. Ross, Wanli W. Smith, Shaida A. Andrabi, Tim M. Strom and Michael Pusch. Their work appears in journals such as European Journal of Human Genetics, Journal of Neurology, Human Mutation, Neurobiology of Aging and Neuropediatrics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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