Joseph Porrmann

Dresden, SN, Germany

Last Updated: 09/26/2026

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Found 27 publications

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Journal: Journal of human genetics

Published: April 30, 2026

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?

17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?

Journal: ESMO gastrointestinal oncology

Published: February 06, 2026

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.

Journal: Orphanet journal of rare diseases

Published: September 10, 2025

Corrigendum to "Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders" [Parkinson. Relat. Disord. (2025) 133 107319].

Corrigendum to "Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders" [Parkinson. Relat. Disord. (2025) 133 107319].

Journal: Parkinsonism & related disorders

Published: March 22, 2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 13, 2025

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Journal: American journal of medical genetics. Part A

Published: December 20, 2024

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Journal: Clinical epigenetics

Published: October 18, 2024

Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders.

Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders.

Journal: Parkinsonism & related disorders

Published: October 09, 2024

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.

Journal: NPJ genomic medicine

Published: September 17, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Showing 1-12 of 27

Last Updated: 09/26/2026