Marc Sturm

Biochemistry, Genetics and Molecular BiologyNeuroscienceChemistry

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 8 papers. Top paper: “Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia”.

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.015

N/A

0DataRank · unranked

55 citations

Mona Grimmel, Matias Wagner, J. Christopher Hennings, Christian Marx, René G. Feichtinger +41 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

GGC expansion in ZFHX3 causes SCA4 and impairs autophagy

medRxiv(2023)10.1101/2023.10.26.23297560

N/A

0DataRank · unranked

3 citations

Caspar Groß, Elena Buena Atienza, Sharan Paul, Mandi Gandelman, Tobias B. Haack +25 more

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses

The Lancet Neurology(2024)10.1016/s1474-4422(24)00121-2

N/A

0DataRank · unranked

110 citations

Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu +31 more

A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations

Blood(2024)10.1182/blood.2023022576

N/A

0DataRank · unranked

6 citations

Е. А. Деордиева, Larissa Doll, Mohammad ElGamacy, Benjamin Dannenmann, Joana Azevedo +24 more

A pathogenic variant in RAB32 causes autosomal dominant Parkinson’s disease and activates LRRK2 kinase

medRxiv(2024)10.1101/2024.01.17.24300927

N/A

0DataRank · unranked

3 citations

Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu +32 more

BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements

medRxiv(2024)10.1101/2024.04.13.24305761

N/A

0DataRank · unranked

2 citations

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Kristina Lanko, Rachel Schot +12 more

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.019

N/A

0DataRank · unranked

5 citations

Martin D. Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Kirsten Cremer +29 more