Ales Maver

Ljubljana, Slovenia

Last Updated: 09/26/2026

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Found 118 publications

Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

Journal: European journal of human genetics : EJHG
Published: March 16, 2026

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

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

Journal: Genes
Published: February 28, 2026

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy.

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy.

Journal: Clinical genetics
Published: February 16, 2026

Tubulinopathy Case Series: Marked Intrafamilial Phenotypic Variability Associated With a Novel Missense TUBB Variant.

Tubulinopathy Case Series: Marked Intrafamilial Phenotypic Variability Associated With a Novel Missense TUBB Variant.

Journal: American journal of medical genetics. Part A
Published: October 23, 2025

Biallelic RFC1 Expansions Are a Rare Cause of Early-Onset and Familial Parkinson's Disease.

Biallelic RFC1 Expansions Are a Rare Cause of Early-Onset and Familial Parkinson's Disease.

Journal: Clinical genetics
Published: September 09, 2025

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 30, 2025

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Journal: Genes
Published: July 30, 2025

Toward clinical application of whole-exome sequencing in the diagnosis of men with severely impaired spermatogenesis.

Toward clinical application of whole-exome sequencing in the diagnosis of men with severely impaired spermatogenesis.

Journal: Fertility and sterility
Published: July 27, 2025

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine
Published: June 19, 2025

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

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

Journal: Reproductive biology and endocrinology : RB&E
Published: April 15, 2025

Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.

Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.

Journal: Cells
Published: April 08, 2025

Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.

Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.

Journal: Scientific reports
Published: March 21, 2025
Showing 1-12 of 118

Last Updated: 09/26/2026