🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Maike F. Dohrn

Universitätsklinikum Aachen

ORCID: 0000-0002-5320-9807

Also affiliated with RWTH Aachen University

NeuroscienceMedicineBiochemistry, 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 10 papers. Top paper: “Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort”.

Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort

Journal of the Neurological Sciences(2021)10.1016/j.jns.2021.117498
N/A
0DataRank · unranked
11 citations

Maike F. Dohrn, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, Sandra Elisabete Marques, Sarah Camargos +7 more

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

Genetics in Medicine(2022)10.1016/j.gim.2022.08.019
N/A
0DataRank · unranked
30 citations

Ariel Ruiz, Maike F. Dohrn, Melanie Wayand, Amjad Farooq, Matt C. Danzi +14 more

Deep structured learning for variant prioritization in Mendelian diseases

Nature Communications(2023)10.1038/s41467-023-39306-7
N/A
0DataRank · unranked
43 citations

Maike F. Dohrn, Sarah Fazal, Danique Beijer, Stephan Züchner, Vívian Pedigone Cintra +2 more

Recurrentde-novo gain-of-functionmutation inSPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Journal of Neurology Neurosurgery & Psychiatry(2023)10.1136/jnnp-2023-332130
N/A
0DataRank · unranked
14 citations

Danique Beijer, Museer A. Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach +15 more

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

Journal of Neurology(2023)10.1007/s00415-023-11581-w
N/A
0DataRank · unranked
10 citations

Paschalis Nicolaou, Kerri Spontarelli, Maike F. Dohrn, Stephan Züchner, Pantelitsa Koutsou +6 more

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

Brain(2024)10.1093/brain/awae079
N/A
0DataRank · unranked
10 citations

Clemer Abad, Maike F. Dohrn, Jian J. Li, Ethan Kim Tieu, Jessica Medina +9 more

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity

Brain(2024)10.1093/brain/awae206
N/A
0DataRank · unranked
3 citations

Maike F. Dohrn, Stephan Züchner, Matt C. Danzi, Bianca R. Grosz, Melina Ellis +23 more

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51963
N/A
0DataRank · unranked
3 citations

Güney Bademci, Stephan Züchner, Médéric Jeanne, Nicholas A. Borja, Danique Beijer +8 more

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A

Journal of the Peripheral Nervous System(2024)10.1111/jns.12621
N/A
0DataRank · unranked
1 citations

Matt C. Danzi, Ariel Ruiz, Jacquelyn Raposo, Yeisha Arcia de Jesus, Mary M. Reilly +16 more

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

Brain(2025)10.1093/brain/awaf021
N/A
0DataRank · unranked
7 citations

Maike F. Dohrn, Riccardo Curró, Sara Negri, Petra Laššuthová, Chiara Pisciotta +76 more