Jasmin Blatterer

Graz, Austria

Last Updated: 09/26/2026

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Found 16 publications

Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.

Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.

Journal: Journal of genetics
Published: August 13, 2025

Functional footprints of homologous recombination deficiency in prostate cancer revealed by ctDNA fragmentation and transcription factor accessibility.

Functional footprints of homologous recombination deficiency in prostate cancer revealed by ctDNA fragmentation and transcription factor accessibility.

Journal: British journal of cancer
Published: June 19, 2025

The Expression of a Germline Fusion Gene Involving a Protein-Coding and a Long Non-Coding RNA Gene Results in Severe Brain Malformations.

The Expression of a Germline Fusion Gene Involving a Protein-Coding and a Long Non-Coding RNA Gene Results in Severe Brain Malformations.

Journal: Genes
Published: April 29, 2025

An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report.

An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report.

Journal: Case reports in ophthalmology
Published: August 30, 2024

Extrahepatic biliary atresia and normal-range serum gamma-glutamyltranspeptidase activity: A case report.

Extrahepatic biliary atresia and normal-range serum gamma-glutamyltranspeptidase activity: A case report.

Journal: JPGN reports
Published: June 10, 2024

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Journal: American journal of human genetics
Published: June 10, 2023

Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.

Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.

Journal: Clinical genetics
Published: March 27, 2023

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.

Journal: Gene
Published: December 09, 2021

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.

Journal: Journal of medical genetics
Published: June 28, 2021

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.

Journal: Metabolic brain disease
Published: April 13, 2021

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.

Journal: Journal of medical genetics
Published: March 24, 2021

Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.

Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.

Journal: Neurological research
Published: November 28, 2020
Showing 1-12 of 16

Last Updated: 09/26/2026