Omid Paknia

Rostock, MV, Germany

Last Updated: 09/26/2026

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Found 21 publications

Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients.

Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: September 12, 2025

A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease.

A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease.

Journal: Neurology. Genetics

Published: December 13, 2024

Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.

Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.

Journal: Genetics in medicine open

Published: June 05, 2023

A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS.

A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS.

Journal: Molecular genetics and metabolism reports

Published: August 25, 2022

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.

Journal: European journal of human genetics : EJHG

Published: February 16, 2022

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.

Journal: Journal of medical genetics

Published: August 11, 2021

LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.

LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: November 09, 2020

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

Journal: Journal of the American Society of Nephrology : JASN

Published: April 20, 2020

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Journal: European journal of human genetics : EJHG

Published: April 16, 2020

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Journal: NPJ genomic medicine

Published: March 16, 2020

Repeated evolution of queen parthenogenesis and social hybridogenesis in Cataglyphis desert ants.

Repeated evolution of queen parthenogenesis and social hybridogenesis in Cataglyphis desert ants.

Journal: Molecular ecology

Published: May 07, 2019

Dominance-diversity relationships in ant communities differ with invasion.

Dominance-diversity relationships in ant communities differ with invasion.

Journal: Global change biology

Published: February 27, 2018

Showing 1-12 of 21

Last Updated: 09/26/2026