Jonathan De Winter

6PUBLICATIONS
41CO-AUTHORS
AutoimmunityOphthalmologyOptometryDevelopmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (6)

|Jun 23, 2026
Specific HLA-DRB1 Alleles Associate With Anti-Caspr1 and Anti-CNTN1 Autoantibodies in Autoimmune Nodopathies.

|Jun 10, 2026
Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy.

|Apr 10, 2026
A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy.

Liedewei Van de Vondel, Riccardo Curro, Stefano Facchini

|Nov 07, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Ana Westenberger, Edgard Verdura, Mandy Radefeldt

|Feb 14, 2025
TBP Repeat Expansion Analysis in Patients Carrying Heterozygous STUB1 Variants.

Jonathan De Winter, Liedewei Van de Vondel, Kristof Van Schil

|Jan 04, 2022
A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia.

Jonathan De Winter, Liedewei Van de Vondel, Stephan Züchner

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Frequent Collaborators

3 joint publications

Liedewei Van de Vondel

1 joint publications

Anna Marcé-Grau

1 joint publications

Gabriela Ziegler

1 joint publications

Katja Lohmann