Saskia Biskup

Also affiliated with Praxis für Humangenetik Tübingen, CeGaT (Germany), Bernstein Center for Computational Neuroscience Tübingen, Hertie Institute for Clinical Brain Research

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 9 papers. Top paper: “A second hotspot for pathogenic exon-skipping variants in CDC45”.

A second hotspot for pathogenic exon-skipping variants in CDC45

European Journal of Human Genetics(2024)10.1038/s41431-024-01583-1

N/A

0.165DataRank · unranked

2 citations

Mischa S. G. Ruegg, Bridget J. Fellows, Joseph Cao, Sabine Uhrig, Stephanie Einsele‐Scholz +10 more

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Genetics in Medicine(2020)10.1038/s41436-020-0904-4

N/A

0DataRank · unranked

50 citations

Desirée E.C. Smith, Ellen Crushell, Ralf A. Husain, Gajja S. Salomons, Bader Alhaddad +35 more

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

European Journal of Human Genetics(2022)10.1038/s41431-022-01171-1

N/A

0DataRank · unranked

31 citations

Jiyeon Park, Edward Yi, Elaine Marchi, Tzung‐Chien Hsieh, Yana Kibalnyk +10 more

Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin

Movement Disorders(2022)10.1002/mds.29071

N/A

0DataRank · unranked

22 citations

Demet Önder, Andreas Traschütz, Xenia Kobeleva, Ivan Karin, Martina Minnerop +25 more

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.004

N/A

0DataRank · unranked

3 citations

Yin-Yuan Su, Siwei Chen, Akhil Velluva, Anna Kirstein, Antje Garten +9 more

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269

N/A

0DataRank · unranked

1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 more

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273

N/A

0DataRank · unranked

3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 more

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Brain(2023)10.1093/brain/awad124

N/A

0DataRank · unranked

13 citations

Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak +24 more