Wolfgang Hohne

Koeln, NW, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 18 publications

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

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

Published: December 29, 2021

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.

Journal: American journal of medical genetics. Part A

Published: September 14, 2021

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism.

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism.

Journal: Genes

Published: June 30, 2021

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Journal: Genes

Published: April 16, 2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

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

Published: March 19, 2021

A novel remitting leukodystrophy associated with a variant in FBP2.

A novel remitting leukodystrophy associated with a variant in FBP2.

Journal: Brain communications

Published: November 20, 2020

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

Journal: Annals of neurology

Published: December 06, 2018

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Journal: American journal of human genetics

Published: April 07, 2018

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

Journal: Annals of neurology

Published: May 09, 2017

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.

Journal: Human mutation

Published: April 28, 2016

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Journal: American journal of human genetics

Published: February 09, 2016

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.

Journal: Human genetics

Published: January 20, 2015

Showing 1-12 of 18

Last Updated: 09/26/2026