Danique Beijer
11PUBLICATIONS
91CO-AUTHORS
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Publications (11)
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|Apr 01, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.Holger Hengel, Shabab B Hannan, Selina Reich
|Feb 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.Andrea Cortese, Maike F Dohrn, Riccardo Curro
|Jun 28, 2024
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.Danique Beijer, Maike F Dohrn, Adriana Rebelo
|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.Wouter Steyaert, Lydia Sagath, German Demidov
|Mar 18, 2024
Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.Danique Beijer, Sheila Marte, Jiaxin C Li
|Sep 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.Annette Lischka, Katja Eggermann, Christopher J Record
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Frequent Collaborators
5 joint publications
Maike F Dohrn
5 joint publications
Stephan Züchner
4 joint publications
Matthis Synofzik
3 joint publications
Mary M Reilly
3 joint publications
Jonathan Baets
3 joint publications
Adriana Rebelo
2 joint publications
Christopher J Record
2 joint publications
Arman Çakar
2 joint publications
Andrea Cortese
2 joint publications
Pedro J Tomaselli
