Christian Decker

Mainz, RP, Germany

Last Updated: 09/26/2026

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Found 13 publications

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.

Journal: Human mutation

Published: June 20, 2019

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Journal: Molecular genetics & genomic medicine

Published: April 26, 2017

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

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

Published: December 17, 2016

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Journal: PloS one

Published: October 14, 2014

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.

Journal: Human mutation

Published: December 22, 2013

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.

Journal: Pediatric nephrology (Berlin, Germany)

Published: November 20, 2013

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Journal: PloS one

Published: July 15, 2013

Original and repair bond strength of fiber-reinforced composites in vitro.

Original and repair bond strength of fiber-reinforced composites in vitro.

Journal: Dental materials : official publication of the Academy of Dental Materials

Published: April 19, 2013

Early bone resorption of free microvascular reanastomized bone grafts for mandibular reconstruction--a comparison of iliac crest and fibula grafts.

Early bone resorption of free microvascular reanastomized bone grafts for mandibular reconstruction--a comparison of iliac crest and fibula grafts.

Journal: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery

Published: April 10, 2013

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.

Journal: Human molecular genetics

Published: February 19, 2013

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

Journal: Human mutation

Published: July 05, 2012

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

Journal: Orphanet journal of rare diseases

Published: June 11, 2012

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Last Updated: 09/26/2026