Danique Beijer

German Center for Neurodegenerative Diseases

Also affiliated with Hertie Institute for Clinical Brain Research, University of Tübingen

NeuroscienceBiochemistry, 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 12 papers. Top paper: “BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease”.

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

1.0DataRank · unranked

30 citations

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

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

New England Journal of Medicine(2022)10.1056/nejmoa2207406

N/A

0.831DataRank · unranked

253 citations

Matt C. Danzi, Carlo Wilke, M. Renaud, Sarah Fazal, Marie‐Josée Dicaire +46 more

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

JCI Insight(2021)10.1172/jci.insight.148363

N/A

0.648DataRank · unranked

74 citations

Hong Joo Kim, Lin Guo, Kevin J. O’Donovan, Inès Mademan, Tine Deconinck +21 more

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

Movement Disorders(2022)10.1002/mds.28959

N/A

0.494DataRank · unranked

26 citations

Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau +33 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

0.208DataRank · unranked

3 citations

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

Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease

Molecular Cell(2021)10.1016/j.molcel.2021.04.028

N/A

0DataRank · unranked

108 citations

Thomas Agnew, Anne R. Wondisford, Michael Tellier, Nicole Kaminski, Danique Beijer +15 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

DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM

medRxiv(2021)10.1101/2021.02.02.21250330

N/A

0DataRank · unranked

1 citations

Hyung Jun Kim, Lin Guo, Kevin J. O’Donovan, Inès Mademan, Tine Deconinck +21 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

Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases

Brain Communications(2024)10.1093/braincomms/fcae070

N/A

0DataRank · unranked

18 citations

Sheila Marte, Jiaxin C Li, Willem De Ridder, Jessie Z Chen, Abigail L. D. Tadenev +12 more