Saskia B. Wortmann

ORCID: 0000-0002-1968-8103

Also affiliated with Unfallkrankenhaus Salzburg

Biochemistry, Genetics and Molecular Biology

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 13 papers. Top paper: “Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1”.

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

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 more

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Genetics in Medicine(2020)10.1038/s41436-019-0739-z

N/A

0DataRank · unranked

33 citations

Emmalie A. Jager, Derk P. Allersma, Ayşe Çiğdem Aktuğlu Zeybek, Kaustuv Bhattacharya, François-Guillaume Debray +19 more

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.05.318519

N/A

0DataRank · unranked

2 citations

Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Suk‐young Lee, Lita Duraine +13 more

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

Genome Medicine(2021)10.1186/s13073-021-00873-3

N/A

0DataRank · unranked

32 citations

Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee +15 more

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

Annals of Neurology(2021)10.1002/ana.26127

N/A

0DataRank · unranked

7 citations

Melanie T. Achleitner, Dietrich Trümbach, Laurence Hubert, Arnold Münnich, Barbara Ahlemeyer +26 more

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

medRxiv(2021)10.1101/2021.04.01.21254633

N/A

0DataRank · unranked

33 citations

Mirjana Gušić, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston +48 more

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Genetics in Medicine(2022)10.1016/j.gim.2022.09.015

N/A

0DataRank · unranked

17 citations

Yael Mozer‐Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger +56 more

KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties

Annals of Neurology(2023)10.1002/ana.26662

N/A

0DataRank · unranked

21 citations

Ilaria Mosca, Paolo Ambrosino, Deborah Puzo, Allan Bayat, Saskia B. Wortmann +21 more

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

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0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 more

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

Journal of Medical Genetics(2024)10.1136/jmg-2023-109728

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0DataRank · unranked

5 citations

Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L. Taylor, James A. Poulter +13 more

Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB

Nature Communications(2025)10.1038/s41467-025-57641-9

N/A

0DataRank · unranked

8 citations

Víctor Hugo Sánchez-Vázquez, Benjamín Cartes-Saavedra, Denis Vecellio Reane, Ryan R. Cupo, Hilda Carolina Delgado-De la Herrán +9 more

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants

medRxiv(2025)10.1101/2025.06.25.25330124

N/A

0DataRank · unranked

1 citations

Caspar I. van der Made, Sema Kalkan Uçar, Gayatri Ramakrishnan, Jill A. Rosenfeld, Tiphanie P. Vogel +17 more