Franz Ruschendorf

Berlin, BE, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 35 publications

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Journal: Human mutation

Published: July 14, 2023

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

Journal: Human mutation

Published: May 03, 2022

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.

Journal: Nature communications

Published: December 26, 2020

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

Journal: Human genetics

Published: September 25, 2020

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.

Journal: Genes

Published: September 14, 2020

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: March 05, 2020

Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.

Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.

Journal: International journal of molecular sciences

Published: December 12, 2019

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Journal: Molecular autism

Published: June 03, 2019

Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation.

Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation.

Journal: Frontiers in neurology

Published: December 15, 2018

Age-of-onset information helps identify 76 genetic variants associated with allergic disease.

Age-of-onset information helps identify 76 genetic variants associated with allergic disease.

Journal: PLoS genetics

Published: October 25, 2018

Author Correction: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

Author Correction: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

Journal: Nature genetics

Published: August 18, 2018

Evaluation of food allergy candidate loci in the Genetics of Food Allergy study.

Evaluation of food allergy candidate loci in the Genetics of Food Allergy study.

Journal: The Journal of allergy and clinical immunology

Published: February 13, 2018

Showing 1-12 of 35

Last Updated: 09/26/2026