Borut Peterlin

28PUBLICATIONS
202CO-AUTHORS
Craniofacial biologyEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesVision scienceNeurogenetics
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Publications (28)

|Aug 29, 2026
Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease.

|Jul 28, 2026
Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

|May 04, 2026
Enrichment of Rare Variants in Nuclear-Encoded Mitochondrial Metabolism Genes in Patients with Early-Onset or Familial Parkinson's Disease.

|May 02, 2026
Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy.

|Dec 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Wallid Deb, Thomas Besnard, Florence Desprez

|Nov 19, 2025
The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study.

Rebeka Podgrajsek, Alenka Hodzic, Ales Maver

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Frequent Collaborators

4 joint publications

Saša Ostojić

4 joint publications

Aleš Maver

3 joint publications

Rebeka Podgrajsek

3 joint publications

Tobias B Haack